RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: lymphatic system disease
Accession: DOID:75
browse the term
Definition: An immune system disease that is located_in the lymphatic system. (DO)
Synonyms: exact_synonym: disease of lympoid system; disorder of lymph node and lymphatics; disorder of lymphatic system; disorder of lymphoid system; lymphangiopathy; lymphatic disease; lymphatic diseases; lymphatic disorder; lymphatism; lympoid system disease; status lymphaticus
primary_id: MESH:D008206
xref: EFO:0007352
For additional species annotation, visit the
Alliance of Genome Resources .
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Lgmn
legumain
ISS
MouseDO
NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12223415
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Six1
SIX homeobox 1
ISO
RGD
PMID:21364285
RGD:11561941
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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Tbx1
T-box transcription factor 1
ISO
RGD
PMID:16452092
RGD:155663362
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Unc45a
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
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Dot1l
DOT1 like histone lysine methyltransferase
treatment
ISO
RGD
PMID:23801631
RGD:9588291
NCBI chr 7:8,918,764...8,959,474
Ensembl chr 7:8,917,786...8,956,475
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Rnf20
ring finger protein 20
disease_progression
ISO
RGD
PMID:23412334
RGD:9831405
NCBI chr 5:63,976,063...64,001,754
Ensembl chr 5:63,976,045...64,001,754
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified
ClinVar
PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 PMID:16135823 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25716912 PMID:25741868 PMID:26884178 PMID:27504877 PMID:28492532 PMID:29607586 PMID:35699229 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility
ISO
DNA:snps, haplotype:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22674224 PMID:22674224
RGD:8657089
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc2
ATP binding cassette subfamily C member 2
treatment
ISO
DNA:SNP:5'UTR:rs717620(human) DNA:SNPs: :rs717620(human)
RGD
PMID:24404132 PMID:25007187
RGD:11080959 , RGD:11080979
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
disease_progression
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:15521915 PMID:12100141
RGD:11081076 , RGD:11081143
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984797 PMID:21898527
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
RGD
PMID:17065136
RGD:11100012
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:19759560
RGD:11039451
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684603 PMID:19684604
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
severity
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:25982455
RGD:11076595
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
treatment
ISO
mRNA:increased expression:blood, mononuclear cell (human)
RGD
PMID:12469194 PMID:19020783
RGD:11353852 , RGD:11353866
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Casp8
caspase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22010212
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cast
calpastatin
ISO
protein:increased expresssion:B cell
RGD
PMID:11264179
RGD:5509822
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:22391157
RGD:11352824
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cd40lg
CD40 ligand
ISO
RGD
PMID:9292526
RGD:11352271
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:16353080
RGD:11352810
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd79b
CD79b molecule
ISO
protein:decreased expression:bone marrow, mononuclear cell (human)
RGD
PMID:21487112
RGD:11250414
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)
RGD
PMID:24283754
RGD:11354967
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24736461
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression no_association susceptibility
ISO
DNA:deletion: : DNA:missense mutations:cds: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar RGD
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9389568 PMID:9823374 PMID:10389768 PMID:10667595 PMID:10719365 PMID:11518711 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:20453839 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:27993330 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 PMID:32191290 PMID:33823155 PMID:35001868 PMID:10090949 PMID:9204978 PMID:25675863 PMID:26104880 More...
RGD:11251764 , RGD:11252081 , RGD:11252082 , RGD:11057958
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
disease_progression
ISO
RGD
PMID:25675863
RGD:11252082
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684604
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
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Cfb
complement factor B
ISO
DNA:missense mutation:p.R32Q b(human)
RGD
PMID:6958349
RGD:11041155
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Crebbp
CREB binding protein
disease_progression
ISO
DNA:mutations:multiple
RGD
PMID:25917266
RGD:11060149
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:9250830
RGD:11039038
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cspg4
chondroitin sulfate proteoglycan 4
severity
ISO
RGD
PMID:8562939
RGD:734840
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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Cyba
cytochrome b-245 alpha chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell:
RGD
PMID:19222940
RGD:11040545
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility no_association
ISO
DNA:polymorphism:3"UTR:rs4646903(human) DNA:polymorphism:cds:2452C>A(p.T461N)(human) DNA:polymorphism:3'UTR:3801T>C(human)
RGD
PMID:22964275 PMID:23725389 PMID:16676594
RGD:11352714 , RGD:11352725 , RGD:11352728
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
susceptibility
ISO
DNA:polymorphisms: : DNA:SNP,deletion:splice junction,exon:1934G>A (human)
RGD
PMID:11037802 PMID:19593802
RGD:11352820 , RGD:11252111
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11774269
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
disease_progression susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:19650988 PMID:22215203
RGD:11353796 , RGD:11353805
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Dhfr
dihydrofolate reductase
disease_progression
ISO
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD
PMID:19861437 PMID:9226157 PMID:22969948 PMID:12972803
RGD:11039542 , RGD:11039543 , RGD:11039544 , RGD:11039545
NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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Dnmt3a
DNA methyltransferase 3 alpha
treatment
ISO
DNA:mutations:exon, intron:p.R882(human)
RGD
PMID:25242092
RGD:11041125
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dntt
DNA nucleotidylexotransferase
ISO
protein:increased activity:peripheral blood,bone marrow:
RGD
PMID:7020399
RGD:8694149
NCBI chr 1:239,856,391...239,888,283
Ensembl chr 1:239,856,391...239,888,282
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Dpyd
dihydropyrimidine dehydrogenase
disease_progression no_association
ISO
DNA:SNP: :85T>C (human) DNA:splice-site mutation:intron:IVS14+1G>A (human) DNA:SNPs: :2194G>A, 1156G>T (human)
RGD
PMID:26846104 PMID:26846104 PMID:26846104
RGD:11098453 , RGD:11098453 , RGD:11098453
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Dux4
double homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27776115
NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
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Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Eng
endoglin
disease_progression
ISO
RGD
PMID:17572488
RGD:11041565
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
susceptibility no_association
ISO
DNA:missense mutation, haplotype:exon:p.Y113H (human) DNA:missense mutation, haplotype:exon:p.H139R (human) DNA:polymorphisms:exon DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21983886 PMID:21983886 PMID:21983886 PMID:19593802 PMID:22930568 PMID:22200898 More...
RGD:11252110 , RGD:11252110 , RGD:11252111 , RGD:11252113 , RGD:11252114
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
susceptibility
ISO
DNA:SNPs: :8092C>A, 19007G>A (human) DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)
RGD
PMID:16723154 PMID:16435384
RGD:11252160 , RGD:11340204
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
no_association
ISO
DNA:missense mutations: :p.D312N, p.K751Q (human) DNA:haplotype
RGD
PMID:19101034 PMID:21987080
RGD:11252192 , RGD:11340201
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erg
ETS transcription factor ERG
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar
PMID:27776115 PMID:27993330
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD ClinVar
PMID:17255265 PMID:26102509
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISS
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:8429686
RGD:11340211
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fas
Fas cell surface death receptor
disease_progression
ISO
protein:increased expression:CD34+ bone marrow cell
RGD
PMID:10500800 PMID:9711907
RGD:11049148 , RGD:11049157
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fga
fibrinogen alpha chain
ISO
protein:increased expression:serum (human)
RGD
PMID:25317080
RGD:11040558
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 PMID:16857985 PMID:17606455 PMID:17889720 PMID:19657110 PMID:20733134 PMID:22368270 PMID:22504183 PMID:22504184 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:24046014 PMID:25157968 More...
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25013492
NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115686
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Gh1
growth hormone 1
treatment
ISO
RGD
PMID:2494952
RGD:11352727
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gnb1
G protein subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia
OMIM CTD ClinVar
PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 PMID:32901917 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Gpi
glucose-6-phosphate isomerase
ISO
RGD
PMID:6589021
RGD:11051848
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:17317918 PMID:24698347
RGD:11352774 , RGD:11352812
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsr
glutathione-disulfide reductase
ISO
RGD
PMID:24191316
RGD:11059506
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstm1
glutathione S-transferase mu 1
disease_progression susceptibility no_association
ISO
RGD
PMID:10666194 PMID:15738600 PMID:12827651 PMID:14607752
RGD:10450829 , RGD:10755321 , RGD:10755409 , RGD:10755410
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
disease_progression susceptibility no_association
ISO
DNA:haplotype:cds: DNA:transition mutation:exon: DNA:polymorphism: :1578 a>G(human)
RGD
PMID:10666194 PMID:15738600 PMID:23979883
RGD:10450829 , RGD:10755321 , RGD:10755417
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
disease_progression susceptibility
ISO
RGD
PMID:10666194 PMID:14607752
RGD:10450829 , RGD:10755410
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H1f2
H1.2 linker histone, cluster member
susceptibility
ISO
DNA:SNP, haplotype:enhancer: (rs807212) (human)
RGD
PMID:19806355
RGD:10755490
NCBI chr17:41,391,106...41,392,597
Ensembl chr17:41,388,477...41,392,635
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Hck
HCK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17344919
NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693
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Hdac1
histone deacetylase 1
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2
histone deacetylase 2
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac4
histone deacetylase 4
treatment
ISO
RGD
PMID:23948281
RGD:9681454
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hfe
homeostatic iron regulator
no_association
ISO
DNA:missense mutation:cds:p.H63D (human) DNA:missense mutation:cds:p.C282Y (human) DNA:missense mutation: :p.H63D (human)
RGD
PMID:10627122 PMID:10627122 PMID:17107905
RGD:10755557 , RGD:10755557 , RGD:10755558
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hk1
hexokinase 1
ISO
protein:decreased activity:platelet
RGD
PMID:21921332
RGD:11353881
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hlf
HLF transcription factor, PAR bZIP family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr10:75,154,244...75,211,884
Ensembl chr10:75,154,507...75,211,935
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Hoxd4
homeo box D4
ISO
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15776434
NCBI chr 3:59,614,464...59,634,042
Ensembl chr 3:59,614,464...59,631,528
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Ifng
interferon gamma
susceptibility
ISO
DNA:SNP: :rs2069727(human)
RGD
PMID:21067287
RGD:10755691
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 DNA:SNPs: (human)
CTD ClinVar RGD
PMID:19684604 PMID:25741868 PMID:27993330 PMID:28492532 PMID:24786325
RGD:151347631
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867
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Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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Il10
interleukin 10
treatment
ISO
protein:decreased expression:blood
RGD
PMID:21653647 PMID:15860861
RGD:11049158 , RGD:11049169
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Irf4
interferon regulatory factor 4
ISO
DNA:SNP:intron:rs12203592 (human)
RGD
PMID:19897031
RGD:11526162
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Itpa
inosine triphosphatase
treatment no_association
ISO
DNA:SNPs:exon:94C>A, 138G>A (human) DNA:SNP:intron
RGD
PMID:22009189 PMID:22009189
RGD:10766474 , RGD:10766474
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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Kdm2b
lysine demethylase 2B
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:21310926
RGD:9588255
NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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Kdm3b
lysine demethylase 3B
ISO
protein:increased expression:bone marrow, mononuclear cell (human)
RGD
PMID:22615488
RGD:9586728
NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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Kdm6a
lysine demethylase 6A
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Kmt2a
lysine methyltransferase 2A
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:247640 | OMIM:613065
CTD MouseDO
PMID:24736461 PMID:25730765
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:17910045 PMID:25917266
RGD:11060148 , RGD:11060149
NCBI chr 4:178,185,418...178,218,484
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Lmo2
LIM domain only 2
ISS
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M680I(human)
RGD
PMID:22942567
RGD:11531121
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mthfr
methylenetetrahydrofolate reductase
disease_progression treatment
ISO
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (human)
CTD RGD
PMID:16706930 PMID:19923983 PMID:21644011
RGD:10449398 , RGD:10449407
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
disease_progression no_association susceptibility
ISO
DNA:SNP::rs10925235(human) DNA:polymorphism: :2756A>G(human) DNA:polymorphism: :66A>G(human)
RGD
PMID:26605150 PMID:22453148 PMID:15159311 PMID:21618417
RGD:11531136 , RGD:11531137 , RGD:11531140 , RGD:11531141
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:haplotype:cds: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human)
CTD RGD
PMID:17136115 PMID:17136115 PMID:23940529
RGD:11531133 , RGD:11531135
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:25784651
RGD:11532748
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nat2
N-acetyltransferase 2
susceptibility no_association
ISO
DNA:polymorphisms: : DNA:polymorphisms,haplotype: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22200898 PMID:25804798 PMID:21888617 PMID:22215203
RGD:11532767 , RGD:11532769 , RGD:11353805
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nbn
nibrin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia
OMIM CTD ClinVar
PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 PMID:16415040 PMID:16474176 PMID:16770759 PMID:16810201 PMID:17001621 PMID:17496786 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18023021 PMID:18049891 PMID:18280732 PMID:18606567 PMID:18612309 PMID:18638378 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19584272 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20805886 PMID:21212067 PMID:21302341 PMID:21698754 PMID:22131123 PMID:22373003 PMID:22491912 PMID:22841127 PMID:22864661 PMID:22995991 PMID:23317186 PMID:23555315 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24396275 PMID:24549055 PMID:24728327 PMID:24830725 PMID:24894818 PMID:25117502 PMID:25186627 PMID:25318351 PMID:25503501 PMID:25619955 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26564480 PMID:26722329 PMID:26787654 PMID:26898890 PMID:27153395 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28888541 PMID:29335925 PMID:29371908 PMID:29522266 PMID:29596542 PMID:29615459 PMID:29659569 PMID:29678143 PMID:29785153 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30441849 PMID:30590007 PMID:30651582 PMID:30982232 PMID:31159747 PMID:31206626 PMID:31415627 PMID:31666926 PMID:31780696 PMID:31874108 PMID:32068069 PMID:32427313 PMID:32566746 PMID:32668560 PMID:32832836 PMID:32936981 PMID:32980694 PMID:33309985 PMID:33471991 PMID:33800431 PMID:34072463 PMID:34284872 PMID:35245693 PMID:35264596 PMID:36346689 More...
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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Nos3
nitric oxide synthase 3
susceptibility disease_progression
ISO
DNA:SNP: :rs3918186(human) DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
RGD
PMID:23922896 PMID:20510681
RGD:11533639 , RGD:11533646
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch3
notch receptor 3
ISS
OMIM:247640 | OMIM:613065
MouseDO
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
DNA:mutation: :609C>T (human) DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11774269 PMID:17332311 PMID:18444911 PMID:11774269
RGD:10769347 , RGD:10769359
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:missense mutation:cds:
RGD
PMID:25204082
RGD:11535045
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24076604
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Nt5c2
5'-nucleotidase, cytosolic II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23377183
NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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Nup214
nucleoporin 214
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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Pag1
phosphoprotein membrane anchor with glycosphingolipid microdomains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr 2:91,935,378...92,076,937
Ensembl chr 2:92,057,216...92,069,849
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Pax5
paired box 5
susceptibility
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24013638 PMID:24728327 PMID:25741868 PMID:26214592 PMID:27993330 PMID:28492532 PMID:30643249 PMID:35094443 More...
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human)
RGD
PMID:22976839
RGD:11552580
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:blood (human)
RGD
PMID:27275197
RGD:11535025
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prdm14
PR/SET domain 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19043588
NCBI chr 5:6,082,163...6,092,712
Ensembl chr 5:6,082,442...6,092,712
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Pten
phosphatase and tensin homolog
ISS
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human)
RGD
PMID:9744491
RGD:11041762
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotypes:cds:multiple DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD
PMID:22434102 PMID:9744491
RGD:11041749 , RGD:11041762
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Runx1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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Snrpe
small nuclear ribonucleoprotein polypeptide E
severity
ISO
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
RGD
PMID:23915977
RGD:10768836
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310 Ensembl chr 8:45,050,986...45,057,310
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
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Tal2
TAL bHLH transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcn2
transcobalamin 2
ISO
protein:altered activity:plasma:
RGD
PMID:8754152
RGD:11059889
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Tert
telomerase reverse transcriptase
ISO
DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human)
RGD
PMID:23066086 PMID:15621763
RGD:11038654 , RGD:11038667
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tm9sf2
transmembrane 9 superfamily member 2
ISO
mRNA:increased expression:bone marrow, mononuclear cells (human)
RGD
PMID:12730115
RGD:2317244
NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tpmt
thiopurine S-methyltransferase
treatment no_association
ISO
DNA:SNPs:multiple DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs: :multiple
RGD
PMID:17164697 PMID:22009189 PMID:22009189 PMID:24499706
RGD:11038720 , RGD:10766474 , RGD:10766474 , RGD:11038723
NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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Ttc12
tetratricopeptide repeat domain 12
ISO
DNA:hypermethylation:5'end:CpG dinucleotide
RGD
PMID:17657212
RGD:405866376
NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
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Tyms
thymidylate synthetase
treatment
ISO
DNA:repeats: : rs347430033(human)
RGD
PMID:25007187
RGD:11080979
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Uty
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chr Y:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422
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Vpreb1a
V-set pre-B cell surrogate light chain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
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Xrcc1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:missense mutation, haplotype: :p.R399Q (human) DNA:missense mutation: :p.R194W (human) DNA:missense mutation: :p.R399Q (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21983886 PMID:21983886 PMID:19101034 PMID:19101034
RGD:11252110 , RGD:11252192 , RGD:11252192
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:18615627 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:25157968 PMID:25686603 PMID:25741868 PMID:36063163 More...
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Crlf2
cytokine receptor-like factor 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272
NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
susceptibility
ISO
DNA:polymorphism:G15631T
RGD
PMID:19144407
RGD:6480472
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:22897847 PMID:22955920
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 PMID:21436584 PMID:21680795 PMID:22955920 PMID:25352124 PMID:28111307 More...
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: LYMPHOMATOUS ALL
ClinVar
PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 PMID:21599579 PMID:21821710 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 More...
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Arid4b
AT-rich interaction domain 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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Aspm
assembly factor for spindle microtubules
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atr
ATR serine/threonine kinase
treatment
ISO
RGD
PMID:32001675
RGD:150340693
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Bcorl1
BCL6 co-repressor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Brca1
BRCA1, DNA repair associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Brd1
bromodomain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cmtr2
cap methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
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Cntn6
contactin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:137,354,886...137,751,712
Ensembl chr 4:137,355,367...137,751,119
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Dtl
denticleless E3 ubiquitin protein ligase homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:103,115,810...103,155,029
Ensembl chr13:103,117,186...103,154,890
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Dtx4
deltex E3 ubiquitin ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818
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Efhd1
EF-hand domain family, member D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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En1
engrailed homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Erbin
erbb2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:34,926,962...35,028,440
Ensembl chr 2:34,928,863...35,027,852
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Espl1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:133,424,027...133,450,984
Ensembl chr 7:133,424,130...133,450,984
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Fanca
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:23685749 PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fgf16
fibroblast growth factor 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:26619011
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr4
fibroblast growth factor receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Foxp2
forkhead box P2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
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Gas2
growth arrest-specific 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:101,452,361...101,582,619
Ensembl chr 1:101,482,591...101,582,619
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Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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Gins2
GINS complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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H1f4
H1.4 linker histone, cluster member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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Homer3
homer scaffold protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23685749 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
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Il17rd
interleukin 17 receptor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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Insrr
insulin receptor-related receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
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Irx4
iroquois homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
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Isyna1
inositol-3-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
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Itgb4
integrin subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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Jag1
jagged canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:14615376 PMID:28492532 PMID:33040328
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jmjd1c
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
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Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Kat6a
lysine acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Kdm6a
lysine demethylase 6A
exacerbates
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: (human) DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)
CTD RGD
PMID:23685749 PMID:31483290 PMID:23685749
RGD:150429736 , RGD:150429732
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Kdm6b
lysine demethylase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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Kmt2c
lysine methyltransferase 2C
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23685749 PMID:31483290
RGD:150429736
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 PMID:26242988 PMID:28492532 More...
NCBI chr 4:178,185,418...178,218,484
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Krt15
keratin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,066,802...85,171,799
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Magi1
membrane associated guanylate kinase, WW and PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240
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Maml3
mastermind-like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814
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Map2k2
mitogen activated protein kinase kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012
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Mark2
microtubule affinity regulating kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mier2
MIER family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,153,649...10,169,378
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Mlc1
modulator of VRAC current 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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Morf4l1
mortality factor 4 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749 PMID:26829750
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Mybl1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183
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Mycbp
Myc binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Neto2
neuropilin and tolloid like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023
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Nfib
nuclear factor I/B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Ntrk3
neurotrophic receptor tyrosine kinase 3
treatment
ISO
RGD
PMID:23027130
RGD:150519921
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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Pdzk1
PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23685749 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:29446767 PMID:34008892 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Pygb
glycogen phosphorylase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553
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Rbfox2
RNA binding fox-1 homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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Serpinf1
serpin family F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Slc24a3
solute carrier family 24 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
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Slc3a2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Smc1a
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Son
SON DNA and RNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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Sox11
SRY-box transcription factor 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Sox4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Srcap
Snf2-related CREBBP activator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tlk1
tousled-like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:55,503,358...55,691,968
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Top2a
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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Tp53
tumor protein p53
disease_progression
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 PMID:7885831 PMID:8023157 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:10871862 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:14559903 PMID:16322298 PMID:16494995 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18818522 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23259501 PMID:23625637 PMID:23685749 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:27276561 PMID:27463065 PMID:27489289 PMID:27533082 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29076966 PMID:29324801 PMID:29470806 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30630526 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31775759 PMID:32019277 PMID:33332384 PMID:33372952 PMID:34805717 PMID:16249115 More...
RGD:8547828
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Uhrf1
ubiquitin-like with PHD and ring finger domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 9:1,133,117...1,154,639
Ensembl chr 9:1,134,909...1,154,631
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Vcan
versican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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Wnt5b
Wnt family member 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407
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Xrn2
5'-3' exoribonuclease 2
ISO
DNA:hypermethylation:3' utr: (human)
RGD
PMID:21692051
RGD:11041796
NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
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Hnf1a
HNF1 homeobox A
ISO
RGD
PMID:10489374
RGD:150540314
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Acot8
acyl-CoA thioesterase 8
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851
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Ada
adenosine deaminase
ISO ISS
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM:102700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM ClinVar MouseDO CTD
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 PMID:1680289 PMID:1696926 PMID:1925539 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11157502 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16199547 PMID:16276484 PMID:16825284 PMID:17001642 PMID:17181544 PMID:17185467 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20039061 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:23348723 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28346229 PMID:28492532 PMID:28747913 PMID:29744787 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 PMID:32888943 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:36685585 More...
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Ccn5
cellular communication network factor 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636
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Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cdh22
cadherin 22
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,845,563...153,970,630
Ensembl chr 3:153,845,787...153,970,588
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Ctsa
cathepsin A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
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Dbndd2
dysbindin domain containing 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651
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Dnttip1
deoxynucleotidyltransferase, terminal, interacting protein 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759
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Elmo2
engulfment and cell motility 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185
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Eppin
epididymal peptidase inhibitor
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310
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Fitm2
fat storage-inducing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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Gdap1l1
ganglioside-induced differentiation-associated protein 1-like 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711
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Gtsf1l
gametocyte specific factor 1-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Ift52
intraflagellar transport 52
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency
ClinVar
PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 More...
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jph2
junctophilin 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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Kcnk15
potassium two pore domain channel subfamily K member 15
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455
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Kcns1
potassium voltage-gated channel, modifier subfamily S, member 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960
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Matn4
matrilin 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
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Mmp9
matrix metallopeptidase 9
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mybl2
MYB proto-oncogene like 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Ncoa5
nuclear receptor coactivator 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,736,420...153,769,838
Ensembl chr 3:153,736,420...153,769,553
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Neurl2
neuralized E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380
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Ocstamp
osteoclast stimulatory transmembrane protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,131,113...154,141,611
Ensembl chr 3:154,132,328...154,136,991
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Oser1
oxidative stress responsive serine-rich 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149
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Pabpc1l
poly(A) binding protein, cytoplasmic 1-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997
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Pcif1
phosphorylated CTD interacting factor 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pkig
cAMP-dependent protein kinase inhibitor gamma
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082
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Pltp
phospholipid transfer protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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R3hdml
R3H domain containing-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Bubble boy disease ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20956421 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31632441 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rbpjl
recombination signal binding protein for immunoglobulin kappa J region-like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
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Rims4
regulating synaptic membrane exocytosis 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780
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Sdc4
syndecan 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
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Semg1
semenogelin 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882
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Serinc3
serine incorporator 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808
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Slc12a5
solute carrier family 12 member 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765
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Slc13a3
solute carrier family 13 member 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606
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Slc2a10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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Slc35c2
solute carrier family 35 member C2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,012,262...154,023,549
Ensembl chr 3:154,012,416...154,023,488
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Slpi
secretory leukocyte peptidase inhibitor
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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Snx21
sorting nexin family member 21
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221
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Spata25
spermatogenesis associated 25
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480
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Spint3
serine peptidase inhibitor, Kunitz type, 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779
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Spint4
serine peptidase inhibitor, Kunitz type 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439
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Stk4
serine/threonine kinase 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
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Sys1
Sys1 golgi trafficking protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651
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Tnnc2
troponin C2, fast skeletal type
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029
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Tomm34
translocase of outer mitochondrial membrane 34
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373
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Tox2
TOX high mobility group box family member 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749
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Tp53rka
Tp53 tumor protein p53 regulating kinase A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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Tp53tg5
TP53 target 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349
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Ttpal
alpha tocopherol transfer protein like
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513
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Ube2c
ubiquitin-conjugating enzyme E2C
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339
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Wfdc10a
WAP four-disulfide core domain 10A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420
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Wfdc11
WAP four-disulfide core domain 11
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,397,585...153,406,407
G
Wfdc12
WAP four-disulfide core domain 12
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690
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Wfdc13
WAP four-disulfide core domain 13
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221
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Wfdc2
WAP four-disulfide core domain 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
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Wfdc3
WAP four-disulfide core domain 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952
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Wfdc5
WAP four-disulfide core domain 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904
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Wfdc6a
WAP four-disulfide core domain 6A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144
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Wfdc8
WAP four-disulfide core domain 8
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842
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Wfdc9
WAP four-disulfide core domain 9
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261
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Ywhab
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
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Zfp334
zinc finger protein 334
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:154,112,537...154,125,087
Ensembl chr 3:154,113,561...154,125,057
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Zfp335
zinc finger protein 335
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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Zswim1
zinc finger, SWIM-type containing 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915
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Zswim3
zinc finger, SWIM-type containing 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16497974
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18688853
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Ccr7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cd163
CD163 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd274
CD274 molecule
disease_progression
ISO
RGD
PMID:27418641
RGD:41412177
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd68
Cd68 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd80
Cd80 molecule
IMP
RGD
PMID:10590132
RGD:6902938
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cd86
CD86 molecule
IMP
RGD
PMID:10590132
RGD:6902938
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Csnk1a1
casein kinase 1, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271
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Csnk2a1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
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Csnk2b
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:promoter: -670 G>A(human) protein:increased expression:peripheral blood mononuclear cell:
RGD
PMID:17962369 PMID:7513372
RGD:11049147 , RGD:11049453
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Foxp3
forkhead box P3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:23797717
RGD:38456007
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gpr183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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Icos
inducible T-cell co-stimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20370541
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8800741
RGD:10755707
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8704212
RGD:11049460
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il5
interleukin 5
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16425276
RGD:11354942
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il6
interleukin 6
ISO
protein:increased expression:serum (human)
RGD
PMID:10374863
RGD:11060275
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Jak3
Janus kinase 3
ISO
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)
RGD
PMID:21821710
RGD:11531131
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:CD4+ T cell:
RGD
PMID:27307595
RGD:11532670
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Notch1
notch receptor 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:16707600
RGD:1580759
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Prkcb
protein kinase C, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24090995
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tal2
TAL bHLH transcription factor 2
ISO
RGD
PMID:1763056
RGD:1599285
NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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Terf2
telomeric repeat binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17643074
NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
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Tlx1
T-cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1717256 PMID:1683261
RGD:1599439
NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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Blnk
B-cell linker
susceptibility
ISO
DNA:splice-site mutation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10583958
RGD:1600518
NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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Btk
Bruton tyrosine kinase
susceptibility
ISO
DNA:insertions, point mutations ClinVar Annotator: match by term: Agammaglobulinemia CTD Direct Evidence: therapeutic
ClinVar CTD RGD
PMID:10352268 PMID:15142874 PMID:8162018
RGD:1600526
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Cd79b
CD79b molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14660746
RGD:1599837
NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8380905 PMID:8594569 PMID:8695804 PMID:8939985 PMID:9143921 PMID:9188445 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11668622 PMID:11742281 PMID:12217331 PMID:14974089 PMID:15661032 PMID:16862044 PMID:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Spi1
Spi-1 proto-oncogene
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:33951726
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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C20h22orf15
similar to human chromosome 22 open reading frame 15
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059
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Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,717,421...12,718,785
Ensembl chr20:12,716,779...12,719,520
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 PMID:24481606 PMID:24728327 PMID:25741868 PMID:28492532 PMID:33046446 PMID:34060650 More...
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Blnk
B-cell linker
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24582315 PMID:25741868 PMID:28492532 PMID:30619340 More...
NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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Cc2d2b
coiled-coil and C2 domain containing 2B
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416
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Ccnj
cyclin J
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,659,588...239,677,367
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Tctn3
tectonic family member 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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Zfp518a
zinc finger protein 518A
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 PMID:28492532 More...
NCBI chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Cd79b
CD79b molecule
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive
OMIM ClinVar
PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 PMID:25741868 PMID:25939554 PMID:27076228 PMID:27116393 PMID:27693481 PMID:28302518 PMID:28492532 PMID:29178053 PMID:34922003 More...
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: TCF3-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:33905048 PMID:34618307 More...
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Slc39a7
solute carrier family 39 member 7
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30718914
NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
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Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 PMID:22968692 PMID:15659732 More...
RGD:1600902
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157164
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Npm1
nucleophosmin 1
ISO
RGD
PMID:15659732
RGD:1600902
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261581
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10908157 PMID:17261581
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Twist1
twist family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma
ClinVar
PMID:19797729 PMID:27210295 PMID:27276561 PMID:28337768 PMID:28492532 PMID:32518946 More...
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Slc29a3
solute carrier family 29 member 3
ISO
ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome
ClinVar
PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 PMID:22875837 PMID:23530176 PMID:25741868 PMID:27143505 PMID:27364927 PMID:28492532 PMID:29041934 PMID:29751792 PMID:29808591 PMID:31464584 More...
NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:28492532 PMID:31131953 More...
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Ankrd22
ankyrin repeat domain 22
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:231,639,035...231,670,537
Ensembl chr 1:231,639,314...231,670,381
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Ankrd45
ankyrin repeat domain 45
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466
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C13h1orf105
similar to human chromosome 1 open reading frame 105
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cenpl
centromere protein L
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
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Ch25h
cholesterol 25-hydroxylase
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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Dars2
aspartyl-tRNA synthetase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Dnm3
dynamin 3
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108
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Fas
Fas cell surface death receptor
ISO ISS
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant OMIM:601859 DNA:mutations:cds:555C>T,889A>G(human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 PMID:9028957 PMID:9533447 PMID:9536098 PMID:9821419 PMID:9927496 PMID:10090885 PMID:10515860 PMID:10575548 PMID:10875918 PMID:11830507 PMID:12657942 PMID:15459302 PMID:15459303 PMID:15877736 PMID:16199547 PMID:16537120 PMID:17576681 PMID:17674358 PMID:17999750 PMID:18223337 PMID:18948840 PMID:20301287 PMID:20682655 PMID:20935634 PMID:21183795 PMID:21490157 PMID:21625619 PMID:22237435 PMID:22752343 PMID:22983577 PMID:22983578 PMID:23407489 PMID:24033266 PMID:24728327 PMID:25502423 PMID:25741868 PMID:26563159 PMID:26942442 PMID:27789675 PMID:28492532 PMID:28668589 PMID:31131953 PMID:32499645 PMID:32888943 PMID:33816397 PMID:34573280 PMID:10200300 PMID:9028321 PMID:10497009 More...
RGD:12904015 , RGD:12903983 , RGD:12903956
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
susceptibility
ISO ISS
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant OMIM:601859 CTD Direct Evidence: marker/mechanism
ClinVar OMIM MouseDO CTD
PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 PMID:21368861 PMID:22857792 PMID:25451160 PMID:25741868 PMID:26334989 PMID:26456038 PMID:28492532 More...
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Gas5
growth arrest specific 5
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,303,611...73,306,932
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Ifit1
interferon-induced protein with tetratricopeptide repeats 1
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435
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Ifit2
interferon-induced protein with tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635
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Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
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Klhl20
kelch-like family member 20
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Lipf
lipase F, gastric type
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chr 1:231,493,498...231,511,845
Ensembl chr 1:231,493,498...231,511,845
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Lipj
lipase family member J
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chr 1:231,363,526...231,376,784
Ensembl chr 1:231,363,646...231,376,784
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Lipk
lipase, family member K
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chr 1:231,532,893...231,564,567
Ensembl chr 1:231,532,893...231,564,567
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Lipm
lipase, family member M
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:231,618,145...231,637,599
Ensembl chr 1:231,618,284...231,637,410
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Lipn
lipase, family member N
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:231,584,950...231,603,456
Ensembl chr 1:231,584,956...231,603,468
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Mettl13
methyltransferase 13, eEF1A N-terminus and K55
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,886,151...74,899,937
Ensembl chr13:74,886,155...74,899,870
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Mir199a2
microRNA 199a-2
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063
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Mir214
microRNA 214
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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Mir3120
microRNA 3120
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,588,376...74,588,492
Ensembl chr13:74,588,372...74,588,481
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Mmp9
matrix metallopeptidase 9
disease_progression
ISO
RGD
PMID:21376533
RGD:13204846
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myoc
myocilin
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517660
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Pigc
phosphatidylinositol glycan anchor biosynthesis, class C
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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Prdx6
peroxiredoxin 6
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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Rc3h1
ring finger and CCCH-type domains 1
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
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Rnls
renalase, FAD-dependent amine oxidase
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823
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Serpinc1
serpin family C member 1
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Slc16a12
solute carrier family 16, member 12
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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Slc9c2
solute carrier family 9, member C2 (putative)
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239 Ensembl chr13:73,451,115...73,524,239
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Stambpl1
STAM binding protein-like 1
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chr 1:231,699,620...231,745,034
Ensembl chr 1:231,699,995...231,745,032
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Suco
SUN domain containing ossification factor
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896
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Tnfsf18
TNF superfamily member 18
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
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Tnfsf4
TNF superfamily member 4
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Vamp4
vesicle-associated membrane protein 4
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:74,919,872...74,942,791
Ensembl chr13:74,919,880...74,933,686
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Zbtb37
zinc finger and BTB domain containing 37
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Casp8
caspase 8
ISO ISS
OMIM:607271 ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency
OMIM MouseDO ClinVar
PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 PMID:15998955 PMID:16199547 PMID:17293864 PMID:17576681 PMID:19380800 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25640679 PMID:25741868 PMID:25814141 PMID:26193622 PMID:26556299 PMID:28492532 PMID:29729943 PMID:30267714 PMID:30326257 PMID:32135276 PMID:34362880 More...
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
G
Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
G
Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
G
Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
G
Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
G
Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
G
Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Prkcd
protein kinase C, delta
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
OMIM ClinVar
PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 PMID:23430113 PMID:23666743 PMID:24033266 PMID:25741868 PMID:26546672 PMID:28492532 PMID:30257684 PMID:34264265 More...
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Rft1
RFT1 homolog
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
ClinVar
PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532
NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder
OMIM ClinVar
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:20978259 PMID:21062266 PMID:21063026 PMID:21079152 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22734028 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24703799 PMID:24720724 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26623049 PMID:27577878 PMID:28492532 PMID:29298116 PMID:29493581 PMID:29948256 PMID:30443000 PMID:31891627 PMID:35794233 More...
NCBI chr 4:178,185,418...178,218,484
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder
OMIM ClinVar
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 PMID:8120410 PMID:12460918 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17332249 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21305640 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:23414587 PMID:23431193 PMID:23515407 PMID:24284627 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:33681212 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a
ClinVar
PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 PMID:9028321 PMID:9533447 PMID:9536098 PMID:9821419 PMID:9927496 PMID:10090885 PMID:10200300 PMID:10515860 PMID:10709732 PMID:15459302 PMID:15459303 PMID:17576681 PMID:18223337 PMID:18948840 PMID:20935634 PMID:21490157 PMID:22237435 PMID:23407489 PMID:26942442 PMID:28492532 More...
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b
ClinVar
PMID:8787672 PMID:25741868
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
G
Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
G
Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION
ClinVar OMIM
PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 PMID:10475192 PMID:11098935 PMID:11158025 PMID:11343122 PMID:12353035 PMID:12577056 PMID:12724780 PMID:15138458 PMID:15199380 PMID:15301861 PMID:15688186 PMID:16199547 PMID:17576681 PMID:19380800 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:25814141 PMID:26478010 PMID:26884280 PMID:27102614 PMID:27577878 PMID:27908448 PMID:28492532 PMID:28960754 PMID:28983403 PMID:29077208 PMID:29200144 PMID:29225858 PMID:29305966 PMID:29330115 PMID:29375547 PMID:29729943 PMID:29796761 PMID:30048690 PMID:30250467 PMID:30326257 PMID:30377434 PMID:30443250 PMID:30940614 PMID:31396201 PMID:31955317 PMID:31993940 PMID:32499327 PMID:32499645 PMID:32531373 PMID:32623363 PMID:33864888 PMID:34111452 PMID:34128135 PMID:34628649 PMID:34975878 PMID:35599849 PMID:35753512 PMID:35999394 More...
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
G
Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
G
Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
G
Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
G
Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
G
Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
G
Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
G
Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
G
Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
G
Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
G
Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
G
Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
G
Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
G
Ripk1
receptor interacting serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 PMID:32181283 PMID:36466854 More...
NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
G
Tnfrsf11a
TNF receptor superfamily member 11A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
OMIM CTD ClinVar
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:23623386 PMID:25741868
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
G
Abcg2
ATP binding cassette subfamily G member 2
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
G
Acoxl
acyl-CoA oxidase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcl2
BCL2, apoptosis regulator
treatment severity no_association
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human)
CTD RGD
PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 PMID:16960146 More...
RGD:11522735 , RGD:11526110 , RGD:11526105 , RGD:11526104
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bmf
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19376813 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21062266 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Btk
Bruton tyrosine kinase
treatment
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar RGD
PMID:24869598 PMID:25741868 PMID:28492532 PMID:23045577
RGD:11040699
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cbl
Cbl proto-oncogene
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547 PMID:17804547
RGD:11038803 , RGD:11038803
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd5
Cd5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
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Cd79b
CD79b molecule
ISO
protein:decreased expression:B lymphocyte, cell surface (human) DNA:polymorphism:multiple (human) mRNA, protein:splice variants, alternative forms:exon 3 (human)
RGD
PMID:9269755 PMID:10552962 PMID:10090943
RGD:11250403 , RGD:151665202 , RGD:151665190
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:16094420 PMID:15914560
RGD:11344923 , RGD:11352246
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Dkc1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
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Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:22739018 PMID:19484764
RGD:11252203 , RGD:11252204
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Farp2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fcgr3a
Fc gamma receptor 3A
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
disease_progression no_association
ISO
protein:increased expression:serum DNA:SNPs: :multiple DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
RGD
PMID:22945689 PMID:10638947 PMID:19573080 PMID:19573080
RGD:11041895 , RGD:11049174 , RGD:11049165 , RGD:11049165
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:18271063 PMID:10870116
RGD:11051967 , RGD:11522755
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18006695 PMID:10870116
RGD:11522755
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18758461 PMID:12393648 PMID:12079517
RGD:11526160 , RGD:11530024
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Itga4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chr 4:178,185,418...178,218,484
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Ms4a1
membrane spanning 4-domains A1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
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Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Plcg2
phospholipase C, gamma 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
CTD ClinVar
PMID:24869598 PMID:27542411 PMID:28492532
NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930
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Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr18:59,986,020...59,992,434
Ensembl chr18:59,986,017...59,992,429
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Polb
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
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Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15928039 PMID:16358218 PMID:17177198 PMID:17972951 PMID:18759865 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27069254 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Qpct
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711
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Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572
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Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD ClinVar
PMID:22158541 PMID:23634996 PMID:25741868 PMID:26619011
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Sp140
SP140 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 , RGD:11041895
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP: :1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Tnfsf13
TNF superfamily member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Topbp1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
G
Tp53
tumor protein p53
disease_progression
ISO
DNA:deletion: : ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:253702 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16337994 PMID:16401470 PMID:16439677 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30709875 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32126783 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32817165 PMID:32906206 PMID:32959997 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:36988593 PMID:10867151 More...
RGD:11075074
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Vdr
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Xpo1
exportin 1
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
G
Xrcc1
X-ray repair cross complementing 1
severity no_association
ISO
DNA:SNP: :p.R399Q (rs25487) (human) DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
RGD
PMID:19484764 PMID:19484764
RGD:11252204 , RGD:11252204
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
G
Abcg2
ATP binding cassette subfamily G member 2
susceptibility
ISO
DNA:SNP: :rs6857600(human)
RGD
PMID:21918980
RGD:11080977
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Aicda
activation-induced cytidine deaminase
ISO
RGD
PMID:17251349
RGD:11039449
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Bcl2l2
Bcl2-like 2
disease_progression
ISO
RGD
PMID:28094768
RGD:14394511
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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Bcl6
BCL6, transcription repressor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Btk
Bruton tyrosine kinase
treatment
ISO
human cell in a mouse model
RGD
PMID:25662332 PMID:28348046
RGD:11040764 , RGD:124713554
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Csf2
colony stimulating factor 2
treatment
ISO
RGD
PMID:8469286
RGD:10450244
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11042651
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Eaf2
ELL associated factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20564326
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity treatment
ISO ISS
MouseDO RGD
PMID:23982173 PMID:29456795
RGD:10755356 , RGD:126781726
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24837469
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kat5
lysine acetyltransferase 5
severity
ISO
RGD
PMID:17728759
RGD:9588481
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Lgals1
galectin 1
IEP
protein:increased expression:primary tumor (rat)
RGD
PMID:16733672
RGD:2316550
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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Mir143
microRNA 143
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
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Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17892514
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14633661
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14654083
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Stat5a
signal transducer and activator of transcription 5A
ISO
RGD
PMID:27018255
RGD:151665817
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Tnfsf9
TNF superfamily member 9
ISO
RGD
PMID:10202049
RGD:2317349
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akr1c3
aldo-keto reductase family 1, member C3
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650
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Bcl2l1
Bcl2-like 1
severity
ISO
RGD
PMID:18216295
RGD:11531108
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcr
BCR activator of RhoGEF and GTPase
ISO
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
G
Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment susceptibility
ISO
DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)
RGD
PMID:16618932 PMID:26104880 PMID:21622646
RGD:11251751 , RGD:11057958 , RGD:11251772
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
treatment
ISO
RGD
PMID:21622646 PMID:16618932
RGD:11251772 , RGD:11251751
G
Crlf2
cytokine receptor-like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
treatment
ISO
DNA:polymorphisms: :
RGD
PMID:21225912
RGD:11353807
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Dux4
double homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27019113
NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
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Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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F13a1
coagulation factor XIII A1 chain
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ikzf1
IKAROS family zinc finger 1
disease_progression
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24141364 PMID:22699455
RGD:11075072
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Il5
interleukin 5
ISO
RGD
PMID:15368290
RGD:7241068
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:25006123 PMID:20585039 PMID:21818355
RGD:11526159 , RGD:11530030 , RGD:11530020
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Isx
intestine-specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr19:13,217,637...13,239,754
Ensembl chr19:13,218,552...13,239,760
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:22120021
RGD:7207416
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Pax5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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Pdgfra
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22447844
RGD:11075097
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Runx1
RUNX family transcription factor 1
onset
ISO
DNA:amplification CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15217836 PMID:24413735 PMID:21822204
RGD:6482828
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5a
signal transducer and activator of transcription 5A
ISO
protein:increased phosphorylation:bone marrow (human)
RGD
PMID:27018255
RGD:151665817
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
G
Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
G
Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
G
Tnfsf13
TNF superfamily member 13
ISO
RGD
PMID:15488762
RGD:1549466
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3)
ClinVar
PMID:25741868
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1
ClinVar
PMID:22658618 PMID:25741868 PMID:28492532
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532 PMID:30093976
NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532 PMID:33471991
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ClinVar
PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 PMID:15964893 PMID:18716613 PMID:20113479 PMID:25741868 PMID:28492532 PMID:29367366 PMID:31829210 More...
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Blau syndrome
ClinVar
PMID:28492532
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome CTD Direct Evidence: marker/mechanism DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snp:cds:p.E383K (human) DNA:snp:cds:p.E383G (human) DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
OMIM ClinVar CTD RGD
PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12202985 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14522785 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15086578 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15554080 PMID:15571588 PMID:15620648 PMID:15712650 PMID:15770725 PMID:15812565 PMID:15967635 PMID:15998797 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:16804397 PMID:17157607 PMID:17207093 PMID:17301648 PMID:17393391 PMID:17489054 PMID:17576681 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18718560 PMID:18942754 PMID:18955195 PMID:19103559 PMID:19116920 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20039400 PMID:20047977 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20332463 PMID:20565245 PMID:20713205 PMID:20959815 PMID:21097508 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21596301 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22377804 PMID:22440928 PMID:22509093 PMID:22543157 PMID:22684479 PMID:22859352 PMID:22926499 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23334666 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24595243 PMID:24597572 PMID:24713464 PMID:24803813 PMID:24876985 PMID:25093298 PMID:25136265 PMID:25209167 PMID:25365249 PMID:25416713 PMID:25429073 PMID:25741868 PMID:25829188 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26606664 PMID:26768519 PMID:26774591 PMID:27306066 PMID:27339507 PMID:27373512 PMID:27419275 PMID:27625029 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28639104 PMID:28658209 PMID:28750667 PMID:28814775 PMID:28836875 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29697845 PMID:29795570 PMID:29867916 PMID:30159790 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:30574935 PMID:30693132 PMID:30783801 PMID:31681265 PMID:32346654 PMID:32463623 PMID:32597225 PMID:32647028 PMID:32707200 PMID:32716958 PMID:33692434 PMID:34251956 PMID:34573280 PMID:19479837 PMID:15812565 PMID:19116920 PMID:11528384 More...
RGD:8547518 , RGD:8547515 , RGD:8158051 , RGD:8158040
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Sall1
spalt-like transcription factor 1
ISO
ClinVar Annotator: match by term: Blau syndrome
ClinVar
PMID:28492532
NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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A4galt
alpha 1,4-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11482875
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Bbc3
Bcl-2 binding component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18573879
NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509
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Bcl2l2
Bcl2-like 2
ISO
mRNA:increased expression:lymph node
RGD
PMID:28094768
RGD:14394511
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Burkitt lymphoma
ClinVar
PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 PMID:33471991 PMID:36881271 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Btk
Bruton tyrosine kinase
ameliorates treatment
ISO
Human cell line in a mouse model mRNA:increased expression:multiple (human)
RGD
PMID:28474336 PMID:30546948
RGD:124713565 , RGD:124715474
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Calr
calreticulin
treatment
ISO
human cells and recombinant protein in a mouse model human cell line and recombinant protein in a mouse model
RGD
PMID:9858521 PMID:10961892
RGD:150521687 , RGD:150521702
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cct6b
chaperonin containing TCP1 subunit 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284
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Cd40
CD40 molecule
treatment
ISO
human cell line in a mouse model
RGD
PMID:9192773
RGD:11520790
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Ftcd
formimidoyltransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Gna13
G protein subunit alpha 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
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Id3
inhibitor of DNA binding 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143595 PMID:23143597
NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
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Mir21
microRNA 21
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir23b
microRNA 23b
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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Mllt11
MLLT11, transcription factor 7 cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31587870
NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO ISS
OMIM:113970 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Burkitt lymphoma DNA:mutations:exons:multiple (human)
MouseDO CTD ClinVar OMIM RGD
PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370
RGD:1601453 , RGD:10059619
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Pbx1
PBX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
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Pc
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Sall3
spalt-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15182131
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 More...
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Mdfic
MyoD family inhibitor domain containing
ISS ISO
OMIM:617300 ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
MouseDO ClinVar
PMID:25741868 PMID:35235341
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:28552327
RGD:124715478
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd79b
CD79b molecule
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082G>A (human)
RGD
PMID:22628023
RGD:7364831
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Myd88
MYD88, innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ctcf
CCCTC-binding factor
disease_progression
ISO
mRNA, protein:increased expression:bone marrow, blood (human)
RGD
PMID:24393203
RGD:151356757
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
ClinVar Annotator: match by term: Choanal atresia and lymphedema
OMIM ClinVar
PMID:20826270 PMID:25741868
NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:28492532
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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Ccdc116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607
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Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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Gnaz
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,643,473...13,694,240
Ensembl chr20:13,644,640...13,669,907
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Iglc1
immunoglobulin lambda constant 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822
G
Igll1
immunoglobulin lambda-like polypeptide 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216
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Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
G
Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Mapk1
mitogen activated protein kinase 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
G
Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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Mir130b
microRNA 130b
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
G
Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
G
Ppil2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144
G
Ppm1f
protein phosphatase, Mg2+/Mn2+ dependent, 1F
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340
G
Pramex1
PRAME like, X-linked 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
G
Rab36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,606,700...13,624,304
Ensembl chr20:13,608,136...13,624,170
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
G
Rimbp3
RIMS binding protein 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082
G
Rsph14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chr20:13,627,495...13,703,447
Ensembl chr20:13,629,000...13,703,449
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
G
Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
G
Sdf2l1
stromal cell-derived factor 2-like 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
G
Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
G
Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
G
Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
G
Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
G
Tmem191c
transmembrane protein 191C
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172
G
Top3b
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
G
Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:83,086,578...83,087,933
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
G
Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
G
Vpreb1a
V-set pre-B cell surrogate light chain 1A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
G
Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
G
Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336
G
Ypel1
yippee-like 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr11:83,921,799...83,936,409
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
G
Zfp280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chr20:12,627,106...12,641,943
Ensembl chr20:12,627,106...12,646,683
G
Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
G
Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
G
Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
G
C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
G
Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
G
Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
G
Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
G
Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
G
Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
G
Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
G
Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
G
Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
G
LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
G
Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
G
Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
G
Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
G
Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
G
Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
G
Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
G
Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
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Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:83,086,578...83,087,933
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
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Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
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Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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Ak3
adenylate kinase 3
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:27078856
RGD:13842476
NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625
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Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:increased expression: (human)
RGD
PMID:36595475
RGD:401901275
NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12068308 PMID:12198537 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19206169 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:24033266 PMID:24451042 PMID:25157968 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cd40lg
CD40 ligand
ISO
protein:increased expression:serum (human)
RGD
PMID:9450802
RGD:11522717
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd79b
CD79b molecule
ISO
protein:decreased expression:peripheral blood cells (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) protein:decreased expression:blood, B cell (human) protein:decreased expression:blood cells (human)
RGD
PMID:10516749 PMID:10090943 PMID:10329919 PMID:10753858
RGD:151665125 , RGD:151665190 , RGD:11531139 , RGD:151665152
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Cd86
CD86 molecule
ISO
DNA:hypermethylation (human)
RGD
PMID:23154584
RGD:11354975
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:21911837
RGD:11354912
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Irf4
interferon regulatory factor 4
disease_progression
ISO
DNA:SNPs:3' utr:multiple DNA:SNP: :rs872071 (human) DNA:missense mutation:exon:p.L116R (human)
RGD
PMID:23897826 PMID:20123861 PMID:20731705 PMID:23926303 PMID:20090783 PMID:21791429 More...
RGD:11526156 , RGD:11530031 , RGD:11530029 , RGD:11530026 , RGD:11530021 , RGD:11526158
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chr 4:178,185,418...178,218,484
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mir155
microRNA 155
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:20956327
RGD:11340590
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26254371
RGD:11073982
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:27069254 PMID:28098151 PMID:30868567 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
susceptibility
ISO
DNA:snp:cds:p.R620W (rs2476601) (human) protein:increased expression:B cell (human)
RGD
PMID:23287625 PMID:22569400
RGD:11533998 , RGD:11535006
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:253702 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30816478 PMID:30840781 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32126783 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32817165 PMID:32906206 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Xpo1
exportin 1
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:serum (human)
RGD
PMID:21266446
RGD:11081158
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Il5
interleukin 5
severity
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Vtn
vitronectin
ISO
RGD
PMID:12126637
RGD:1580817
NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
OMIM ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
G
Alox15b
arachidonate 15-lipoxygenase, type B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
G
Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
G
Asgr1
asialoglycoprotein receptor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
G
Asgr2
asialoglycoprotein receptor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
G
Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
G
Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
G
Bcl6b
BCL6B, transcription repressor
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
G
Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
C10h17orf49
similar to human chromosome 17 open reading frame 49
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
G
Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cd68
Cd68 molecule
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Cd81
Cd81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
G
Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
G
Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
G
Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
G
Clec10a
C-type lectin domain containing 10A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
G
Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
G
Cr2
complement C3d receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
G
Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
G
Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
G
Cyb5d1
cytochrome b5 domain containing 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
G
Dclre1c
DNA cross-link repair 1C
ISO
DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human)
RGD
PMID:26476407
RGD:11251730
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
G
Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
G
Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
G
Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
G
Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
G
Eif4a1
eukaryotic translation initiation factor 4A1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
G
Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
G
Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
G
Fbxo39
F-box protein 39
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
G
Fcgr2a
Fc gamma receptor 2A
ISO
protein:decreased expression:blood, monocyte
RGD
PMID:17900300
RGD:5147988
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
G
Fxr2
FMR1 autosomal homolog 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
G
Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
G
Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
G
Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
G
Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
G
Icos
inducible T-cell co-stimulator
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
G
Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar
PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
G
Il21
interleukin 21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IL21 DEFICIENCY
CTD ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il21r
interleukin 21 receptor
ISO
DNA:SNPs:exons:
RGD
PMID:18254984
RGD:6892941
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
G
Kcnab3
potassium voltage-gated channel subfamily A regulatory beta subunit 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
G
Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
G
Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
G
Manba
mannosidase beta
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983
G
Mbl2
mannose binding lectin 2
ISO
DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human)
RGD
PMID:10652157
RGD:4889436
NCBI chr 1:228,016,439...228,024,736
G
Mir195
microRNA 195
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
G
Mpdu1
mannose-P-dolichol utilization defect 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
G
Ms4a1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
G
Naa38
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
G
Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
G
Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 More...
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
G
Nfkb2
nuclear factor kappa B subunit 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency
CTD ClinVar MouseDO
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 More...
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
G
Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:T cell (human)
RGD
PMID:22697005
RGD:6771226
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
G
Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
G
Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
G
Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
G
Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 PMID:26457731 PMID:26996199 PMID:28492532 PMID:29772310 PMID:31334206 PMID:31388879 PMID:32581362 PMID:32655540 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
G
Rnasek
ribonuclease K
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms (human)
RGD
PMID:10361244
RGD:5147864
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Sat2
spermidine/spermine N1-acetyltransferase family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
G
Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
G
Shbg
sex hormone binding globulin
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
G
Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
G
Slc16a11
solute carrier family 16, member 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
G
Slc16a13
solute carrier family 16, member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
G
Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
G
Slc35g3
solute carrier family 35, member G3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
G
Sox15
SRY-box transcription factor 15
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591
G
Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
G
Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
G
Tekt1
tektin 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
G
Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
G
Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
G
Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
G
Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
CTD ClinVar
PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30665703 PMID:30723478 PMID:30739909 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33726816 PMID:34093558 PMID:34426522 PMID:34975878 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD ClinVar
PMID:28492532
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Tnfsf12
TNF superfamily member 12
ISO
ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532
NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
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Tnfsf13
TNF superfamily member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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Ttc7a
tetratricopeptide repeat domain 7A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 PMID:32581362 More...
NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
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Vamp2
vesicle-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Xaf1
XIAP associated factor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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Ybx2
Y box binding protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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Zbtb4
zinc finger and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
OMIM ClinVar
PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 PMID:15507387 PMID:16199547 PMID:17576681 PMID:19380800 PMID:20817864 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 PMID:31858365 PMID:32499645 More...
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:24140114 PMID:28492532
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25569260 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 PMID:24140114 PMID:24702956 PMID:24888602 PMID:25237204 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:29921932 PMID:30697212 PMID:30941118 PMID:31417880 PMID:32506361 PMID:32888943 PMID:34619682 PMID:34975878 PMID:36703223 More...
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Stim1
stromal interaction molecule 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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Il21
interleukin 21
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 11
OMIM ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Nfkb1
nuclear factor kappa B subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition
OMIM ClinVar
PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 PMID:26279205 PMID:27365489 PMID:28492532 PMID:29077208 PMID:29477724 PMID:31803180 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 PMID:34447408 PMID:36105815 More...
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkbid
NFKB inhibitor delta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar
NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13
OMIM ClinVar
PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 PMID:28096536 PMID:28492532 PMID:28927821 PMID:29889099 PMID:30940614 PMID:31057532 PMID:31089937 PMID:34329649 PMID:35566429 More...
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Arid4b
AT-rich interaction domain 4B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Coa6
cytochrome c oxidase assembly factor 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407
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Ggps1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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Gng4
G protein subunit gamma 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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Irf2bp2
interferon regulatory factor 2 binding protein 2
ISO
ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558
NCBI chr19:54,559,417...54,565,096
Ensembl chr19:54,560,128...54,566,642
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Kcnk1
potassium two pore domain channel subfamily K member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:53,959,411...53,997,726
Ensembl chr19:53,959,657...53,997,724
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LOC120098679
small nucleolar RNA SNORA14
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,934,225...54,934,358
Ensembl chr19:54,934,225...54,934,358
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Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
G
Rbm34
RNA binding motif protein 34
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
G
Slc35f3
solute carrier family 35, member F3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,102,811...54,371,765
Ensembl chr19:54,103,120...54,372,839
G
Tarbp1
TAR (HIV-1) RNA binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
G
Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
G
Tomm20
translocase of outer mitochondrial membrane 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
G
Ruvbl1
RuvB-like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
ClinVar
PMID:28782633
NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
G
Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
OMIM ClinVar
PMID:25741868 PMID:28782633
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
G
Aldh3a2
aldehyde dehydrogenase 3 family, member A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
G
Alkbh5
alkB homolog 5, RNA demethylase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
G
Atpaf2
ATP synthase mitochondrial F1 complex assembly factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
G
B9d1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
G
Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
G
Cops3
COP9 signalosome subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
G
Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
G
Drc3
dynein regulatory complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
G
Drg2
developmentally regulated GTP binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
G
Epn2
epsin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
G
Fam83g
family with sequence similarity 83, member G
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
G
Fbxw10
F-box and WD repeat domain containing 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
G
Flcn
folliculin
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
G
Flii
FLII, actin remodeling protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
G
Gid4
GID complex subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
G
Grap
GRB2-related adaptor protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
G
Llgl1
LLGL scribble cell polarity complex component 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
G
Mapk7
mitogen-activated protein kinase 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
G
Med9
mediator complex subunit 9
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
G
Mfap4
microfibril associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
G
Mief2
mitochondrial elongation factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
G
Mprip
myosin phosphatase Rho interacting protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
G
Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
G
Nt5m
5',3'-nucleotidase, mitochondrial
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
G
Pemt
phosphatidylethanolamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
G
Pld6
phospholipase D family, member 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
G
Prpsap2
phosphoribosyl pyrophosphate synthetase-associated protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
G
Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
G
Rasd1
ras related dexamethasone induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
G
Rnf112
ring finger protein 112
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
G
Shmt1
serine hydroxymethyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
G
Slc47a1
solute carrier family 47 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
G
Slc5a10
solute carrier family 5 member 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
G
Smcr8
SMCR8-C9orf72 complex subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
OMIM ClinVar
PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16618819 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17576681 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20652909 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22922270 PMID:22983507 PMID:23225259 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25205549 PMID:25326637 PMID:25569260 PMID:25640679 PMID:25741868 PMID:25959671 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29531467 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30301590 PMID:30665703 PMID:30723478 PMID:30739909 PMID:30993493 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32135276 PMID:32185379 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33425813 PMID:33726816 PMID:33859323 PMID:34093558 PMID:34426522 PMID:34441032 PMID:34573280 PMID:34975878 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
G
Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
G
Tom1l2
target of myb1 like 2 membrane trafficking protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
G
Top3a
DNA topoisomerase III alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
G
Tvp23b
trans-golgi network vesicle protein 23 homolog B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
G
Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 3
OMIM ClinVar
PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34490048 More...
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
G
A4galt
alpha 1,4-galactosyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
G
Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
G
Ccdc134
coiled-coil domain containing 134
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
G
Cenpm
centromere protein M
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
G
Chadl
chondroadherin-like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
G
Csdc2
cold shock domain containing C2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
G
Cyb5r3
cytochrome b5 reductase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
G
Desi1
desumoylating isopeptidase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
G
Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
G
Mei1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
G
Mir33
microRNA 33
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
G
Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
G
Ndufa6
NADH:ubiquinone oxidoreductase subunit A6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
G
Nfam1
NFAT activating protein with ITAM motif 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442
G
Pheta2
PH domain containing endocytic trafficking adaptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
G
Phf5a
PHD finger protein 5A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
G
Pmm1
phosphomannomutase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
G
Poldip3
DNA polymerase delta interacting protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
G
Rangap1
RAN GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
G
Rbx1
ring-box 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
G
Rrp7a
ribosomal RNA processing 7 homolog A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
G
Septin3
septin 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
G
Serhl2
serine hydrolase-like 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,246,035...114,266,298
Ensembl chr 7:114,246,056...114,272,781
G
Shisa8
shisa family member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
G
Smdt1
single-pass membrane protein with aspartate-rich tail 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226
G
Smim45
small integral membrane protein 45
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,769,175...113,773,952
Ensembl chr 7:113,765,468...113,773,339
G
Snu13
small nuclear ribonucleoprotein 13
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872 Ensembl chr 1:113,565,295...113,570,872
G
Srebf2
sterol regulatory element binding transcription factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Tcf20
transcription factor 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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Tef
TEF transcription factor, PAR bZIP family member
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 More...
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Tob2
transducer of ERBB2, 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
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Wbp2nl
WBP2 N-terminal like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
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Xpnpep3
X-prolyl aminopeptidase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
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Xrcc6
X-ray repair cross complementing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
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Zc3h7b
zinc finger CCCH-type containing 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
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Ms4a1
membrane spanning 4-domains A1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 5
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Cd81
Cd81 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 6
OMIM ClinVar
PMID:20237408 PMID:25741868 PMID:28492532
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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C13h1orf116
similar to human chromosome 1 open reading frame 116
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426
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C4bpa
complement component 4 binding protein, alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205
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C4bpb
complement component 4 binding protein, beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817
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Cd34
CD34 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832
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Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd55
CD55 molecule (Cromer blood group)
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
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Cr1l
complement C3b/C4b receptor 1 like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445
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Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26325596 PMID:28492532 PMID:28499783 PMID:29148534 PMID:29867916 PMID:30075290 PMID:33046446 PMID:34426522 More...
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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Fcamr
Fc alpha and mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113
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Fcmr
Fc mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il20
interleukin 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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Il24
interleukin 24
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
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Pfkfb2
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699
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Pigr
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875
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Plxna2
plexin A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979
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Yod1
YOD1 deubiquitinase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205
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Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 PMID:24033266 PMID:25468195 PMID:25640679 PMID:25741868 PMID:25931386 PMID:26122175 PMID:26206937 PMID:26768763 PMID:27379089 PMID:28197149 PMID:28473463 PMID:28492532 PMID:28720148 PMID:28956255 PMID:29867916 PMID:30363934 PMID:31432443 PMID:31876783 PMID:31887391 PMID:32084423 PMID:32135276 PMID:32154999 PMID:32499645 PMID:32531373 PMID:32707200 PMID:33225392 PMID:33359885 PMID:33481921 PMID:33717114 PMID:33864888 PMID:33942430 PMID:34093558 PMID:34573280 PMID:36074705 More...
NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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Mab21l2
mab-21 like 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
ClinVar
PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532
NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
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Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
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Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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C5h1orf127
similar to human chromosome 1 open reading frame 127
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:25741868 PMID:34768622
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
G
Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Htatsf1
HIV-1 Tat specific factor 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
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Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,979,657...134,996,007
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Zic3
Zic family member 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia
OMIM CTD ClinVar
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:15319456 PMID:15358621 PMID:16019685 PMID:17295247 PMID:17764085 PMID:18342287 PMID:18716025 PMID:21465648 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26014430 PMID:26294094 PMID:27406248 PMID:28492532 PMID:30622330 PMID:32753700 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Pulmonary lymphangiectasia
ClinVar
PMID:25741868
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
PMID:25741868 PMID:26531781
NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
PMID:25741868 PMID:30532227
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Rai2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
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Zfyve16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
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Zic3
Zic family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17127413
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21325069
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7688627
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bcas2
BCAS2, pre-mRNA processing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l2
Bcl2-like 2
disease_progression
ISO
RGD
PMID:28094768
RGD:14394511
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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Bcl6
BCL6, transcription repressor
disease_progression
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949 PMID:15701085
RGD:1600111 , RGD:11530023
NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 PMID:22970155 PMID:24010542 PMID:24033266 PMID:24916970 PMID:25682074 PMID:25741868 PMID:25940717 PMID:26295337 PMID:26467025 PMID:26845104 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28692638 PMID:28724667 PMID:28993434 PMID:29310832 PMID:29335925 PMID:29360550 PMID:29752822 PMID:29907814 PMID:30093976 PMID:30287823 PMID:30613976 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30875412 PMID:31159747 PMID:31214711 PMID:31360904 PMID:31396961 PMID:31589614 PMID:31742824 PMID:31825140 PMID:31957001 PMID:32072338 PMID:32295079 PMID:32338768 PMID:32846166 PMID:32959997 PMID:33471991 PMID:33558524 PMID:36988593 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 PMID:28049639 PMID:28212557 PMID:28418267 PMID:28492532 PMID:29496671 PMID:29875397 PMID:30018078 PMID:32455989 PMID:33154951 PMID:36029036 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Card11
caspase recruitment domain family, member 11
ISO
DNA:missense mutations:exons:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25049379 PMID:26192916 PMID:18323416
RGD:11100036
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccdc86
coiled-coil domain containing 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23828858
NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544
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Cd22
CD22 molecule
treatment
ISO
RGD
PMID:25708834
RGD:151665133
NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25049379
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Cd79b
CD79b molecule
severity treatment
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:multiple, exon 5 (human) DNA:missense mutation:multiple, exon 5-6 (human) DNA:mutation:multiple (human)
CTD ClinVar RGD
PMID:11160144 PMID:21173233 PMID:31402495 PMID:31609782 PMID:25347427 PMID:25708834 PMID:28803429 More...
RGD:151665203 , RGD:11075852 , RGD:151665133 , RGD:151665120
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Cdk1
cyclin-dependent kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21325069
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Cltc
clathrin heavy chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dicer1
dicer 1 ribonuclease III
disease_progression
ISO
RGD
PMID:25195038
RGD:149735347
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 PMID:33238114 PMID:34315901 More...
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:35053500
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20081860 PMID:28438623
RGD:126779596
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fcgr2a
Fc gamma receptor 2A
disease_progression
ISO
DNA:SNP: :rs1801274 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Foxo1
forkhead box O1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:26314988 PMID:29721381 PMID:35079069
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Gli1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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Gstm1
glutathione S-transferase mu 1
treatment
ISO
RGD
PMID:20303013
RGD:10450835
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP: :(rs1695)(human)
RGD
PMID:19338043
RGD:8547939
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
severity
ISO
DNA:deletion:cds:
RGD
PMID:20303013
RGD:10450835
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Icam1
intercellular adhesion molecule 1
disease_progression
ISO
proteion:increased expression:serum:
RGD
PMID:12598355
RGD:11354982
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma
RGD
PMID:11821949
RGD:1600111
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Immp2l
inner mitochondrial membrane peptidase subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840
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Irf4
interferon regulatory factor 4
disease_progression
ISO
RGD
PMID:15701085
RGD:11530023
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804550
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Malt1
MALT1 paracaspase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
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Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:20919850
RGD:6483541
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:17712558
RGD:6893517
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Myd88
MYD88, innate immune signal transduction adaptor
severity
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:L265P (human) DNA:mutation:L265P, L265S (human)
CTD ClinVar RGD
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:25049379 PMID:26619011 PMID:28492532 PMID:31609782 PMID:25347427 PMID:28803429 More...
RGD:151665203 , RGD:11075852 , RGD:151665120
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9590180 PMID:16415040 PMID:28492532
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21390130 PMID:22158541 PMID:23292937
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
no_association
ISO
RGD
PMID:15198731
RGD:2298905
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nom1
nucleolar protein with MIF4G domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr 4:5,891,220...5,910,741
Ensembl chr 4:5,892,909...5,909,709
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Pdpk1
3-phosphoinositide dependent protein kinase-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:22321048
RGD:150530470
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31123343
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 PMID:11035045 PMID:11504908 PMID:12297295 PMID:15016963 PMID:15254419 PMID:15647370 PMID:17526800 PMID:17526801 PMID:18725974 PMID:18986487 PMID:19265751 PMID:19366826 PMID:19903786 PMID:20085938 PMID:20453058 PMID:20533527 PMID:20619739 PMID:21194675 PMID:22162582 PMID:22162589 PMID:22628360 PMID:23335809 PMID:24778394 PMID:24905788 PMID:25157968 PMID:25336918 PMID:25448482 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29874181 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rangap1
RAN GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27150054
NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
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Rps6kb1
ribosomal protein S6 kinase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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Sec31a
SEC31 homolog A, COPII coat complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
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Sf3a1
splicing factor 3A subunit 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:22037554 PMID:26498691 PMID:33563892
NCBI chr14:79,031,394...79,052,144
Ensembl chr14:79,031,394...79,052,144
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Skp2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18850583
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Smurf2
SMAD specific E3 ubiquitin protein ligase 2
ISS
MouseDO
NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488
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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 PMID:26702067 PMID:28492532 PMID:29162862 PMID:29180260 PMID:30940614 PMID:31737384 PMID:31770611 PMID:31771617 PMID:32231398 PMID:36240433 More...
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Syk
spleen associated tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33782605
NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410
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Tbl1xr1
TBL1X/Y related 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 PMID:26769062 PMID:28492532 PMID:28562391 PMID:32619424 PMID:32932517 PMID:35165208 More...
NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
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Tp53
tumor protein p53
ISS ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
MouseDO ClinVar
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:10414702 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16489069 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28985567 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Txnip
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
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Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO ISS
OMIM:188400
MouseDO RGD
PMID:12563036
RGD:734550
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar RGD
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 PMID:9126485 More...
RGD:1578806
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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Ccdc116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607
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Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Chrd
chordin
ISS
OMIM:188400
MouseDO
NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:8886163 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Crkl
CRK like proto-oncogene, adaptor protein
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:188400 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD MouseDO ClinVar
PMID:16399080 PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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Dgcr6
DiGeorge syndrome critical region gene 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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Dicer1
dicer 1 ribonuclease III
ISS
OMIM:188400
MouseDO
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Dock1
dedicator of cyto-kinesis 1
ISS
OMIM:188400
MouseDO
NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768
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Dvl1
dishevelled segment polarity protein 1
ISO
RGD
PMID:8644734
RGD:1580898
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Ess2
ess-2 splicing factor homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
CTD ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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Fgf8
fibroblast growth factor 8
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:188400
CTD MouseDO
PMID:16399080
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Foxn1
forkhead box N1
ISS
OMIM:188400
MouseDO
NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
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Gnaz
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,643,473...13,694,240
Ensembl chr20:13,644,640...13,669,907
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10754480 PMID:11058894 PMID:11315851 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:14747304 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:21051477 PMID:21628466 PMID:23348805 PMID:23551881 PMID:23607861 PMID:25174781 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28862987 PMID:29417725 PMID:30814848 PMID:32741144 PMID:34373539 More...
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hoxa3
homeobox A3
ISS
OMIM:188400
MouseDO
NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218
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Iglc1
immunoglobulin lambda constant 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:81,947,966...81,949,822
Ensembl chr11:81,947,934...81,949,822
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Igll1
immunoglobulin lambda-like polypeptide 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,138,847...84,142,238
Ensembl chr11:84,138,910...84,142,216
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Kat6a
lysine acetyltransferase 6A
ISO ISS
OMIM:188400
MouseDO RGD
PMID:22921202
RGD:9590333
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
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Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Mapk1
mitogen activated protein kinase 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
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Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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Mir130b
microRNA 130b
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:188400
MouseDO
NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
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P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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Plxnd1
plexin D1
ISS
OMIM:188400
MouseDO
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Ppil2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144
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Ppm1f
protein phosphatase, Mg2+/Mn2+ dependent, 1F
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340
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Pramex1
PRAME like, X-linked 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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Rab36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,606,700...13,624,304
Ensembl chr20:13,608,136...13,624,170
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Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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Rimbp3
RIMS binding protein 3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082
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Rsph14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:13,627,495...13,703,447
Ensembl chr20:13,629,000...13,703,449
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Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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Sdf2l1
stromal cell-derived factor 2-like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
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Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
ISO
ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1
T-box transcription factor 1
ISO ISS
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome OMIM:188400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15190012 PMID:15355425 PMID:15703190 PMID:16199547 PMID:16399080 PMID:17000704 PMID:17273972 PMID:17576681 PMID:18375573 PMID:19948535 PMID:20937753 PMID:21921585 PMID:24033266 PMID:24637876 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25640679 PMID:25741868 PMID:25860641 PMID:26467025 PMID:26805781 PMID:26805782 PMID:27879657 PMID:28272434 PMID:28492532 PMID:28798025 PMID:29250159 PMID:29500247 PMID:30007050 PMID:30245509 PMID:30773290 PMID:31690835 PMID:32045288 PMID:32110744 PMID:32185379 PMID:32581362 PMID:33995479 PMID:34374102 PMID:22921202 PMID:11242110 PMID:25197075 More...
RGD:9590333 , RGD:1578374 , RGD:155641238
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tgfbr2
transforming growth factor, beta receptor 2
ISS
OMIM:188400
MouseDO
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
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Tmem191c
transmembrane protein 191C
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172
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Top3b
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392
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Tp53
tumor protein p53
ISO
RGD
PMID:25197075
RGD:155641238
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:83,086,578...83,087,933
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar RGD
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 PMID:10024240 More...
RGD:1580803
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Vegfa
vascular endothelial growth factor A
ISS
OMIM:188400
MouseDO
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vpreb1a
V-set pre-B cell surrogate light chain 1A
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
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Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:25516202 PMID:28492532
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
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Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336
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Ypel1
yippee-like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr11:83,921,799...83,936,409
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Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
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Zfp280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chr20:12,627,106...12,641,943
Ensembl chr20:12,627,106...12,646,683
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Zfp366
zinc finger protein 366
ISS
OMIM:188400
MouseDO
NCBI chr 2:30,578,552...30,640,546
Ensembl chr 2:30,578,715...30,642,182
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Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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Nebl
nebulette
ISO
ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2
ClinVar
PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28492532 PMID:28750076 PMID:33762593 More...
NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
ClinVar
PMID:25741868
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site:
OMIM ClinVar CTD RGD
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
RGD:12791265
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
DNA:mutations:multiple (human)
RGD
PMID:27600764
RGD:150429643
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: MALT lymphoma
ClinVar OMIM
PMID:9989495 PMID:10380920 PMID:10408400
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
DNA:gene fusion: (human)
RGD
PMID:21465313
RGD:153305955
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
protein:increased expression: mucosa-associated lymphoid tissue (human)
RGD
PMID:27544389
RGD:152023632
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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RT1-Ba
RT1 class II, locus Ba
treatment
ISO
associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC
ClinVar
PMID:18179888 PMID:19377476 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 PMID:25741868 PMID:26467025 PMID:27443559 PMID:27841901 PMID:28492532 PMID:28611399 PMID:29926425 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis
ClinVar
PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:12060139 PMID:12716377 PMID:14576041 PMID:14757862 PMID:15205266 PMID:15365097 PMID:15632205 PMID:15755897 PMID:15840696 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17525286 PMID:17674359 PMID:17873118 PMID:18190960 PMID:18710388 PMID:19487666 PMID:19595804 PMID:19639728 PMID:21234777 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22437823 PMID:23073290 PMID:23255033 PMID:23264592 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24390453 PMID:24744671 PMID:24916509 PMID:25577959 PMID:25741868 PMID:26184781 PMID:26199792 PMID:26684649 PMID:27209435 PMID:27271812 PMID:27577878 PMID:27622035 PMID:27896523 PMID:28492532 PMID:28757574 PMID:29095814 PMID:29152263 PMID:29239076 PMID:29357941 PMID:29665027 PMID:30849948 PMID:31388699 PMID:31395954 PMID:31789783 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:32963807 PMID:33365035 PMID:33658321 PMID:33746956 PMID:33822359 More...
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Stx11
syntaxin 11
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis
ClinVar
PMID:20486178 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
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Stxbp2
syntaxin binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 PMID:22451424 PMID:22791290 PMID:23382066 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25564401 PMID:25741868 PMID:27577878 PMID:28353193 PMID:28492532 PMID:28724787 PMID:32256442 PMID:32375849 PMID:32542393 PMID:32935436 PMID:33746956 PMID:34050687 PMID:34330684 PMID:36588876 PMID:36706356 More...
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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Unc13d
unc-13 homolog D
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis
ClinVar
PMID:9536098 PMID:14622600 PMID:16778144 PMID:16825436 PMID:17576681 PMID:20823128 PMID:21248318 PMID:21931115 PMID:23180437 PMID:23560006 PMID:24470399 PMID:24825797 PMID:24842371 PMID:24935083 PMID:25553300 PMID:25573973 PMID:25741868 PMID:27123661 PMID:27896523 PMID:28492532 PMID:28848550 PMID:29262924 PMID:29312353 PMID:29549174 PMID:31388699 PMID:32327331 PMID:32542393 PMID:33746956 PMID:34339548 More...
NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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Eif4ebp2
eukaryotic translation initiation factor 4E binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar
PMID:28492532
NCBI chr20:29,379,444...29,400,110
Ensembl chr20:29,382,668...29,399,946
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver:
RGD
PMID:26518437 PMID:26518437
RGD:11343232 , RGD:11343232
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
ISO
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen:
RGD
PMID:26518437
RGD:11343232
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar
PMID:28492532
NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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Pald1
phosphatase domain containing, paladin 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar
PMID:28492532
NCBI chr20:29,269,814...29,334,850
Ensembl chr20:29,270,193...29,334,858
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Prf1
perforin 1
ISO ISS
DNA:missense mutations, nonsense mutations: :multiple ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to OMIM:603553 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:12725560 PMID:14576041 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15205266 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15632205 PMID:15659737 PMID:15718147 PMID:15728124 PMID:15755277 PMID:15755897 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17311987 PMID:17328077 PMID:17356398 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17576681 PMID:17601962 PMID:17606450 PMID:17627755 PMID:17674359 PMID:17873118 PMID:18074390 PMID:18190960 PMID:18496551 PMID:18710388 PMID:18799942 PMID:18927437 PMID:19484379 PMID:19487666 PMID:19595804 PMID:19639728 PMID:20015888 PMID:20019066 PMID:20055781 PMID:20092789 PMID:20197201 PMID:20638125 PMID:21152410 PMID:21157294 PMID:21234777 PMID:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23073290 PMID:23160464 PMID:23180437 PMID:23255033 PMID:23264592 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24215106 PMID:24309606 PMID:24390453 PMID:24578718 PMID:24744671 PMID:24916509 PMID:25047945 PMID:25215106 PMID:25233452 PMID:25297583 PMID:25326635 PMID:25326637 PMID:25354579 PMID:25577959 PMID:25741868 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26199792 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:26903364 PMID:27033761 PMID:27209435 PMID:27271812 PMID:27290639 PMID:27391055 PMID:27535533 PMID:27577878 PMID:27622035 PMID:27896523 PMID:28353193 PMID:28492532 PMID:28750028 PMID:28936583 PMID:29095814 PMID:29113160 PMID:29152263 PMID:29239076 PMID:29263817 PMID:29357941 PMID:29665027 PMID:29777376 PMID:30104219 PMID:30539918 PMID:30697212 PMID:30849948 PMID:30899265 PMID:31055813 PMID:31388699 PMID:31395954 PMID:31664448 PMID:31789783 PMID:32150605 PMID:32356861 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:32963807 PMID:33225392 PMID:33258288 PMID:33365035 PMID:33658321 PMID:33746956 PMID:33822359 PMID:33869605 PMID:33942430 PMID:34170459 PMID:34677667 PMID:34938098 PMID:12060139 More...
RGD:6482809
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Unc13d
unc-13 homolog D
susceptibility
ISO ISS
DNA:deletions, insertion, snps:exons, intron:multiple (human) ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition OMIM:608898 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:15548590 PMID:16199547 PMID:16278825 PMID:16365863 PMID:16778144 PMID:16825436 PMID:17576681 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:19903216 PMID:20015888 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21182842 PMID:21248318 PMID:21370424 PMID:21600143 PMID:21653941 PMID:21674762 PMID:21755595 PMID:21881043 PMID:21931115 PMID:22508512 PMID:23180437 PMID:23560006 PMID:23669735 PMID:23672263 PMID:23840885 PMID:24033266 PMID:24043286 PMID:24139496 PMID:24309606 PMID:24459464 PMID:24470399 PMID:24825797 PMID:24842371 PMID:24916509 PMID:24935083 PMID:25502423 PMID:25553300 PMID:25573973 PMID:25741868 PMID:25901543 PMID:26342526 PMID:26419432 PMID:26684649 PMID:27123661 PMID:27164702 PMID:27209435 PMID:27408432 PMID:27781387 PMID:27872624 PMID:27896523 PMID:27914778 PMID:28353193 PMID:28399723 PMID:28492532 PMID:28748566 PMID:28848550 PMID:29113160 PMID:29262924 PMID:29312353 PMID:29357941 PMID:29409136 PMID:29415165 PMID:29549174 PMID:29665027 PMID:29783935 PMID:29864493 PMID:29930202 PMID:30220951 PMID:30899265 PMID:31388699 PMID:31681265 PMID:32135276 PMID:32222431 PMID:32245292 PMID:32327331 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32888943 PMID:33225392 PMID:33365035 PMID:33658321 PMID:33746956 PMID:34083498 PMID:34106167 PMID:34170459 PMID:34339548 PMID:34677667 PMID:36155879 PMID:36706356 PMID:14622600 More...
RGD:1600451
NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
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Fuca2
alpha-L-fucosidase 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chr 1:7,885,986...7,900,777
Ensembl chr 1:7,885,918...7,900,776
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Ltv1
LTV1 ribosome biogenesis factor
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563
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Pex3
peroxisomal biogenesis factor 3
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
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Phactr2
phosphatase and actin regulator 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
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Plagl1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chr 1:7,477,295...7,517,229
Ensembl chr 1:7,477,177...7,517,228
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Sf3b5
splicing factor 3b, subunit 5
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chr 1:7,357,040...7,357,752
Ensembl chr 1:7,350,731...7,357,839
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Stx11
syntaxin 11
ISO ISS
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 OMIM:603552 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 PMID:24033266 PMID:24459464 PMID:24524345 PMID:24916509 PMID:25741868 PMID:26004995 PMID:26176172 PMID:28492532 PMID:28750028 PMID:29113160 PMID:29665027 PMID:30899265 More...
NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
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Zc2hc1b
zinc finger, C2HC-type containing 1B
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chr 1:7,537,291...7,565,054
Ensembl chr 1:7,537,291...7,565,054
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Camsap3
calmodulin regulated spectrin-associated protein family, member 3
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,643,062...1,666,685
Ensembl chr12:1,643,251...1,666,685
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Ccl25
C-C motif chemokine ligand 25
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554
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Cd209d
CD209d molecule
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd320
CD320 molecule
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
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Cers4
ceramide synthase 4
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,851,784...2,890,244
Ensembl chr12:2,851,784...2,886,828
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Clec4g
C-type lectin domain family 4, member G
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,780,370...1,785,027
Ensembl chr12:1,780,371...1,784,985
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Clec4m
C-type lectin domain family 4 member M
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Ctxn1
cortexin 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,610,465...2,612,076
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Elavl1
ELAV like RNA binding protein 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,640,936...2,684,787
Ensembl chr12:2,645,061...2,684,784
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Evi5l
ecotropic viral integration site 5-like
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,519,648...2,558,766
Ensembl chr12:2,519,671...2,559,950
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Fcer2
Fc epsilon receptor II
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
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Lrrc8e
leucine rich repeat containing 8 VRAC subunit E
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412
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Map2k7
mitogen activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Mcemp1
mast cell-expressed membrane protein 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,721,781...1,727,350
Ensembl chr12:1,718,730...1,725,986
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Mcoln1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Pcp2
Purkinje cell protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:19804848 PMID:22451424 PMID:28492532
NCBI chr12:1,681,659...1,683,899
Ensembl chr12:1,681,659...1,683,899
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Pet100
PET100 cytochrome c oxidase chaperone
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:19804848 PMID:22451424 PMID:28492532
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Retn
resistin
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Snapc2
small nuclear RNA activating complex, polypeptide 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,605,794...2,608,997
Ensembl chr12:2,605,810...2,608,999
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Stx11
syntaxin 11
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:15703195
NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
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Stxbp2
syntaxin binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: STXBP2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10788461 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 PMID:20102228 PMID:20558610 PMID:20798128 PMID:20823128 PMID:21881043 PMID:22336081 PMID:22451424 PMID:22791290 PMID:22796692 PMID:23382066 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25564401 PMID:25741868 PMID:25901543 PMID:26451869 PMID:26684649 PMID:27209435 PMID:27379089 PMID:27577878 PMID:27781387 PMID:27848944 PMID:28353193 PMID:28380445 PMID:28399723 PMID:28492532 PMID:28724787 PMID:28748566 PMID:29599780 PMID:29665027 PMID:30104219 PMID:30697212 PMID:30899265 PMID:31130284 PMID:31286990 PMID:31388699 PMID:31513353 PMID:31976148 PMID:32256442 PMID:32375849 PMID:32531373 PMID:32542393 PMID:32935436 PMID:33162974 PMID:33746956 PMID:34050687 PMID:34249802 PMID:34330684 PMID:34336208 PMID:34630398 PMID:35207437 PMID:35296096 PMID:36510129 PMID:36588876 PMID:36706356 PMID:37477760 More...
NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
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Tgfbr3l
transforming growth factor beta receptor 3 like
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,600,874...2,604,211
Ensembl chr12:2,600,934...2,604,222
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Timm44
translocase of inner mitochondrial membrane 44
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
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Trappc5
trafficking protein particle complex subunit 5
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,737,666...1,741,312
Ensembl chr12:1,737,627...1,742,637
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Xab2
XPA binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chr12:1,667,672...1,679,702
Ensembl chr12:1,667,672...1,679,692
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Rc3h1
ring finger and CCCH-type domains 1
ISO
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6
OMIM ClinVar
PMID:25741868
NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
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Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:27592711
RGD:40400889
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Prg2
proteoglycan 2, pro eosinophil major basic protein
ISO
RGD
PMID:24626328
RGD:40903014
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma
ClinVar
PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 PMID:33060403 PMID:34075200 More...
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Follicular lymphoma
ClinVar
PMID:9989495
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Bcl2
BCL2, apoptosis regulator
susceptibility
ISO
DNA:translocation: ;t(14;18)(q32;q21) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3287162 PMID:12855623 PMID:16671111 PMID:3287162
RGD:1599473 , RGD:734639
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
human gene in a mouse model
RGD
PMID:25582824
RGD:11344981
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Ebf1
EBF transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Irf4
interferon regulatory factor 4
severity
ISO
RGD
PMID:17296585
RGD:11530032
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Kdsr
3-ketodihydrosphingosine reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25526675 PMID:8417785
RGD:1598985
NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Rarres1
retinoic acid receptor responder 1
ISS
OMIM:151430
MouseDO
NCBI chr 2:151,749,715...151,783,975
Ensembl chr 2:151,749,715...151,783,978
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Rragc
Ras-related GTP binding C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767
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Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
RGD
PMID:26722499
RGD:11553660
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Cma1
chymase 1
IEP
mRNA:increased expression:tumor (rat)
RGD
PMID:15723097
RGD:5128499
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Il4
interleukin 4
treatment
IDA
RGD
PMID:24372369
RGD:10402806
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Mif
macrophage migration inhibitory factor
IEP
associated with Kidney Diseases
RGD
PMID:11126199
RGD:1642009
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20679225
RGD:5508736
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Tlr9
toll-like receptor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19797157
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20979472 PMID:21030459 PMID:22920921
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Ranbp2
RAN binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21030459
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Griscelli syndrome
ClinVar
PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25741868 PMID:26684649 PMID:28492532 More...
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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Myo5a
myosin VA
ISO ISS
OMIM:214450 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type
OMIM MouseDO CTD ClinVar
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32275080 More...
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
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Ccpg1
cell cycle progression 1
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:28492532
NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
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Dnaaf4
dynein axonemal assembly factor 4
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:28492532
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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Pierce2
piercer of microtubule wall 2
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:28492532
NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849
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Pigb
phosphatidylinositol glycan anchor biosynthesis, class B
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:10835631 PMID:23160464 PMID:28492532
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16199547 PMID:16278825 PMID:16551969 PMID:17085000 PMID:17576681 PMID:18350256 PMID:18397837 PMID:18403584 PMID:19030707 PMID:19953648 PMID:22475297 PMID:23160464 PMID:24033266 PMID:24678334 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25801174 PMID:25901543 PMID:26684649 PMID:26880764 PMID:27016801 PMID:27416802 PMID:27781387 PMID:28353193 PMID:28492532 PMID:28585352 PMID:28936583 PMID:29357941 PMID:29522846 PMID:30104219 PMID:30290665 PMID:30697212 PMID:30899265 PMID:30934652 PMID:31233462 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32655337 PMID:32853466 PMID:32856792 PMID:32860008 PMID:32888943 PMID:32965739 PMID:33225392 PMID:33362801 PMID:34329649 PMID:34573280 PMID:34796988 More...
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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Mlph
melanophilin
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 PMID:26337734 PMID:26915675 PMID:28492532 PMID:30389201 PMID:31721180 PMID:32864751 More...
NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
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Myo5a
myosin VA
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar
PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8843970
RGD:11353776
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
RGD
PMID:9613675
RGD:11522762
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Map2k1
mitogen activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241536
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Cd163
CD163 molecule
ISO
protein:increased expression:blood serum (human)
RGD
PMID:15613100
RGD:127285796
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Elp1
elongator acetyltransferase complex subunit 1
ISS
MouseDO
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
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Havcr2
hepatitis A virus cellular receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374066
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:26914138
RGD:11529541
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Il18
interleukin 18
ISO
associated with Epstein-Barr Virus Infections;protein:increased expression:serum
RGD
PMID:20472718
RGD:8655917
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Prf1
perforin 1
ISO
associated with Lymphocytic Choriomeningitis
RGD
PMID:20049711
RGD:6482810
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Rab27a
RAB27A, member RAS oncogene family
ISS
MouseDO
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 PMID:21778431 PMID:22239599 PMID:23653581 PMID:24033266 PMID:24167460 PMID:25741868 PMID:25814692 PMID:26686525 PMID:27323140 PMID:28073151 PMID:28492532 PMID:28985353 PMID:31345219 PMID:31453292 PMID:32472549 PMID:32629717 More...
NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
ClinVar
PMID:25741868
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2
OMIM ClinVar
PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868 PMID:26325558 PMID:28492532 More...
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Adamts3
ADAM metallopeptidase with thrombospondin type 1, motif 3
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763
NCBI chr14:18,231,128...18,437,771
Ensembl chr14:18,231,165...18,435,556
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED
CTD ClinVar
PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 PMID:28985353 PMID:32472549 PMID:32629717 More...
NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Cd209a
CD209a molecule
ISO
mRNA,protein:decreased expression:spleen,liver (mouse)
RGD
PMID:29386115 PMID:24729611
RGD:39938990 , RGD:39938995
NCBI chr12:1,822,663...1,828,246
Ensembl chr12:1,822,663...1,828,246
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Clec4m
C-type lectin domain family 4 member M
ISO
RGD
PMID:18981244
RGD:39938988
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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Krt18
keratin 18
disease_progression
ISO
protein:increased expression:serum (mouse, human)
RGD
PMID:21357724
RGD:21406434
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
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Mir146a
microRNA 146a
ISO
miRNA:increased expression:liver, hepatic stellate cell (mouse) miRNA:increased expression:liver (mouse) miRNA:increased expression:liver, macrophage (mouse)
RGD
PMID:25116007 PMID:25051829 PMID:27780686
RGD:126925174 , RGD:126925180 , RGD:126925179
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Serpinf1
serpin family F member 1
ISO
RGD
PMID:9038736
RGD:30296660
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Celsr1
cadherin, EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: Hereditary lymphedema
ClinVar
PMID:25741868 PMID:31215153
NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
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Flt4
Fms related receptor tyrosine kinase 4
ISS ISO
OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 ClinVar Annotator: match by term: Primary congenital lymphedema
MouseDO ClinVar
PMID:16965327 PMID:25741868
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Hereditary lymphedema
ClinVar
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Vegfc
vascular endothelial growth factor C
ISS
OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907
MouseDO
NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
ClinVar
PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
ClinVar
PMID:9817924 PMID:10835628 PMID:10856194 PMID:16924388 PMID:16965327 PMID:19289394 PMID:24033266 PMID:25741868 More...
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
ClinVar
PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
OMIM ClinVar
PMID:9817924 PMID:10835628 PMID:10856194 PMID:16924388 PMID:16965327 PMID:19289394 PMID:24033266 PMID:25741868 More...
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Edema of the dorsum of feet
ClinVar
PMID:25741868
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gjc2
gap junction protein, gamma 2
ISO
ClinVar Annotator: match by term: Lymphedema, hereditary, IC
OMIM ClinVar
PMID:20537300 PMID:21266381 PMID:25741868 PMID:28492532 PMID:29451896 PMID:31912665 PMID:32581362 More...
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Vegfc
vascular endothelial growth factor C
ISO
ClinVar Annotator: match by term: Lymphedema, hereditary, ID
OMIM ClinVar
PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673
NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12727634 PMID:15071507 PMID:15731174 PMID:15770702 PMID:16199547 PMID:17576681 PMID:18223550 PMID:19953608 PMID:19967552 PMID:20674517 PMID:21147755 PMID:21390052 PMID:21664875 PMID:22527898 PMID:24033266 PMID:24144642 PMID:25741868 PMID:25762520 PMID:25917813 PMID:25981738 PMID:26122175 PMID:26123418 PMID:26476407 PMID:26822949 PMID:28492532 PMID:29167666 PMID:32888943 PMID:34426522 PMID:36546626 More...
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18822103 PMID:19011808 PMID:19178939 PMID:19830075 PMID:20109747 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28083621 PMID:28109013 PMID:28492532 PMID:28769923 PMID:28783691 PMID:29107076 PMID:29772310 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31503426 PMID:31980526 PMID:32000930 PMID:32447396 PMID:32655540 PMID:33193364 PMID:33365035 PMID:33628209 PMID:36279417 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16960852 PMID:17476358 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:19470080 PMID:19912631 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24481607 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Suv39h2
SUV39H2 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:25741868
NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
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Slc29a3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22238637
NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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Slc29a3
solute carrier family 29 member 3
ISO
ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 PMID:16650224 PMID:17461801 PMID:17576681 PMID:18414213 PMID:18940313 PMID:18947330 PMID:19175903 PMID:19336477 PMID:19889517 PMID:20140240 PMID:20199539 PMID:20595384 PMID:20619369 PMID:21178579 PMID:21888995 PMID:22238637 PMID:22653152 PMID:22679148 PMID:22875837 PMID:23406517 PMID:23530176 PMID:23789599 PMID:24172204 PMID:24894595 PMID:25741868 PMID:25963354 PMID:25967258 PMID:26074390 PMID:27143505 PMID:27215564 PMID:27364927 PMID:28492532 PMID:28554179 PMID:29041934 PMID:29751792 PMID:29808591 PMID:30537558 PMID:30783801 PMID:31276222 PMID:31464584 PMID:32151906 PMID:33837634 PMID:33947670 More...
NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd68
Cd68 molecule
severity
ISO
associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human) protein:increased expression:tumor (human)
RGD
PMID:21071500 PMID:23045593
RGD:40925944 , RGD:40925946
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659339
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17562247
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:28492532 PMID:32934698
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:32934698
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gstm1
glutathione S-transferase mu 1
disease_progression
ISO
RGD
PMID:21916526
RGD:10450802
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
disease_progression
ISO
RGD
PMID:21916526
RGD:10450802
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7621881 PMID:8656679 PMID:7686390
RGD:11520780
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10
interleukin 10
treatment
ISO
RGD
PMID:21466366
RGD:11049168
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il6
interleukin 6
treatment
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:21466366
RGD:11049165 , RGD:11049168
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Klhdc8b
kelch domain containing 8B
susceptibility
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:19706467
NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 PMID:20147967 PMID:20570890 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21398618 PMID:25157968 PMID:25251940 PMID:25741868 PMID:26110767 PMID:26970110 PMID:28492532 PMID:30289595 PMID:30891959 PMID:32934698 More...
NCBI chr 4:178,185,418...178,218,484
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7545087
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mthfd2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24688052
NCBI chr 4:115,811,135...115,822,663
Ensembl chr 4:115,811,139...115,822,608
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:32934698
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19223558 PMID:10340377 PMID:10556199
RGD:2298893 , RGD:2298894
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:lymphoid tissue (human)
RGD
PMID:26044287
RGD:11060455
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Pvt1
Pvt1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr 7:93,656,528...93,879,938
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Rel
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
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Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:9746758
RGD:9743928
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8701986 PMID:10908157 PMID:12358914 PMID:12453859 PMID:16879607 PMID:17261581 More...
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679 PMID:8701986 PMID:8896393 PMID:9058727 PMID:10908157 PMID:11552987 PMID:12358914 More...
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18768784
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15877736
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Sox18
SRY-box transcription factor 18
ISO
DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human) ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:28492532 PMID:31358114 PMID:12740761 More...
RGD:1599075
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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Sox18
SRY-box transcription factor 18
ISO
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OMIM ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737 PMID:24584070
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Oas1a
2'-5' oligoadenylate synthetase 1A
ISO
ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia
OMIM ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 PMID:34145065 More...
NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61
OMIM CTD ClinVar
PMID:25741868 PMID:28492532 PMID:29636373
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies
OMIM ClinVar
PMID:19020503 PMID:25741868 PMID:33517393
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:monocyte, neutrophil, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
protein:increased expression:lymphocyte, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Foxp3
forkhead box P3
disease_progression
ISO
RGD
PMID:23628056
RGD:38501103
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33571934
RGD:126790542
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0101 (human)
RGD
PMID:21482926
RGD:40818406
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:7964476
RGD:11035288
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Arl13a
ADP ribosylation factor like GTPase 13A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
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Armcx1
armadillo repeat containing, X-linked 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299
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Armcx2
armadillo repeat containing, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,980,662...97,985,523
Ensembl chr X:97,980,660...97,985,552
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Armcx3
armadillo repeat containing, X-linked 3
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,937,115...97,942,098
Ensembl chr X:97,936,999...97,942,098
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Armcx4
armadillo repeat containing, X-linked 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,860,526...97,870,912
Ensembl chr X:97,860,629...97,870,912
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Armcx6
armadillo repeat containing, X-linked 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10612838 PMID:10666480 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11027452 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11668622 PMID:11742281 PMID:11809909 PMID:11892085 PMID:11956200 PMID:12175777 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15358621 PMID:15661032 PMID:15821893 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16729790 PMID:16862044 PMID:16913189 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19763152 PMID:19904586 PMID:20307669 PMID:20529312 PMID:20721470 PMID:21039741 PMID:21397315 PMID:21520333 PMID:21984432 PMID:22406018 PMID:22736418 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24477949 PMID:24586880 PMID:24658450 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:26960951 PMID:27199251 PMID:27512878 PMID:27535475 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28418267 PMID:28492532 PMID:29202590 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29709555 PMID:29875397 PMID:29921932 PMID:30018078 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30697212 PMID:30882382 PMID:31795557 PMID:32067425 PMID:32117230 PMID:32441320 PMID:32455989 PMID:32477911 PMID:32499645 PMID:32552675 PMID:32581362 PMID:32888943 PMID:33013854 PMID:33042921 PMID:33154951 PMID:33224144 PMID:33225392 PMID:33377626 PMID:33815962 PMID:34029777 PMID:34182127 PMID:34262886 PMID:34975878 PMID:35382780 PMID:36029036 PMID:36790564 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
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Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
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Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nxf7
nuclear RNA export factor 7
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
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Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
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Sytl4
synaptotagmin-like 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
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Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 More...
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
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Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
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Trmt2b
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,425,712...97,483,821
G
Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
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Xkrx
XK related, X-linked
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
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Nfatc2
nuclear factor of activated T-cells 2
ISO
OMIM
NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISS
MouseDO
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
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C5h1orf127
similar to human chromosome 1 open reading frame 127
ISS
MouseDO
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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Ccdc103
coiled-coil domain containing 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581229
NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISS
MouseDO
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kartagener syndrome
CTD ClinVar
PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31443223 PMID:31650533 PMID:31772028 PMID:31879361 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Daw1
dynein assembly factor with WD repeats 1
ISS
MouseDO
NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:19944400 PMID:19944405 PMID:28492532
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:19052621 PMID:24498942
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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Dnaaf3
dynein, axonemal, assembly factor 3
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:22387996
NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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Dnaaf4
dynein axonemal assembly factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23872636
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:25927852 PMID:28492532 PMID:32719396
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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Dnah11
dynein, axonemal, heavy chain 11
susceptibility
ISO ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q
MouseDO RGD
PMID:12142464
RGD:734893
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Dnah5
dynein, axonemal, heavy chain 5
susceptibility
ISO ISS
DNA:mutations ClinVar Annotator: match by term: Kartagener syndrome
ClinVar MouseDO RGD
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31443223 PMID:11788826 More...
RGD:1601080
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Dnai1
dynein, axonemal, intermediate chain 1
susceptibility
ISO ISS
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 PMID:17576681 PMID:18434704 PMID:18492703 PMID:19300481 PMID:19675306 PMID:21143860 PMID:21270641 PMID:22416021 PMID:23477994 PMID:24033266 PMID:24498942 PMID:24912412 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28152038 PMID:28492532 PMID:28939216 PMID:28952366 PMID:29363216 PMID:30067075 PMID:30868567 PMID:31589614 PMID:33032373 PMID:33447612 PMID:11231901 More...
RGD:1601083
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnai2
dynein, axonemal, intermediate chain 2
ISS
MouseDO
NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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Dnal1
dynein, axonemal, light chain 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:21496787
NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
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Drc1
dynein regulatory complex subunit 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kartagener syndrome
CTD MouseDO ClinVar
PMID:23354437 PMID:25741868
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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Foxj1
forkhead box J1
ISS
MouseDO
NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
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Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype:promoter:
RGD
PMID:24753481
RGD:11250592
NCBI chr 1:228,016,439...228,024,736
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Odad1
outer dynein arm docking complex subunit 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 PMID:27637300 PMID:28492532 More...
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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Odad2
outer dynein arm docking complex subunit 2
ISS ISO
ClinVar Annotator: match by term: Kartagener syndrome
MouseDO ClinVar
PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532
NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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Odad3
outer dynein arm docking complex subunit 3
ISS ISO
ClinVar Annotator: match by term: Kartagener syndrome
MouseDO ClinVar
PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532
NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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Polr2k
RNA polymerase II, I and III subunit K
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24055112
NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 More...
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 PMID:28492532 PMID:34513534 More...
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
G
Slit2
slit guidance ligand 2
ISS
MouseDO
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
G
Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 More...
NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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Zmynd10
zinc finger, MYND-type containing 10
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 PMID:33635866 More...
NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16982510
RGD:5686751
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:22337222
RGD:8695960
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446961
NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
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Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNP: :rs 1555115(human)
RGD
PMID:19882345
RGD:9685030
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:17672867
RGD:8551811
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
susceptibility treatment
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human) DNA:polymorphisms, haplotype:multiple
RGD
PMID:17672867 PMID:15962231 PMID:20628649
RGD:8551811 , RGD:8551815 , RGD:8551812
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22446961 PMID:22446962 PMID:22645426
RGD:8547776
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:12563087
RGD:11352236
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Clu
clusterin
treatment
ISO
RGD
PMID:23956692
RGD:8975365
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Crp
C-reactive protein
susceptibility
ISO
DNA:SNP: :1444 C-->T(human)
RGD
PMID:18710885
RGD:9495921
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Eln
elastin
ISO
RGD
PMID:21356372
RGD:9585741
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fcgr2a
Fc gamma receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22081228 PMID:22446962
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:11839635
RGD:1582494
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18720262
RGD:8695977
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmox1
heme oxygenase 1
no_association
ISO
RGD
PMID:14521259
RGD:1598409
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
RGD
PMID:20957478
RGD:5147383
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:polymorphism:5' utr:190G>C (rs1043618) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Il13
interleukin 13
ISO
RGD
PMID:21958311
RGD:5684363
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
susceptibility disease_progression
ISO
DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human)
RGD
PMID:18484687 PMID:15345916 PMID:19288449
RGD:8655874 , RGD:8655924 , RGD:8655898
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
RGD
PMID:22361326 PMID:8777922
RGD:6482661 , RGD:7401221
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il4
interleukin 4
treatment
ISO
RGD
PMID:22367425
RGD:7829825
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Itpkc
inositol-trisphosphate 3-kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18084290
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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Mbl1
mannose binding lectin 1
ISO
RGD
PMID:24721319
RGD:8693744
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:24721319 PMID:15144709
RGD:8693744 , RGD:8693748
NCBI chr 1:228,016,439...228,024,736
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:blood
RGD
PMID:12626459 PMID:18311803
RGD:1580170 , RGD:8547899
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma
RGD
PMID:21410593
RGD:5685654
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Selp
selectin P
ISO
RGD
PMID:20079717
RGD:6478695
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:blood
RGD
PMID:12626459
RGD:1580170
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:monocyte:
RGD
PMID:18353240
RGD:7777156
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
susceptibility treatment
ISO
DNA:SNP: :-308G>A (human)
RGD
PMID:14703611 PMID:18710885 PMID:8777922 PMID:14744383
RGD:1580318 , RGD:9495921 , RGD:7401221 , RGD:7401183
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15470196
RGD:1580572
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISS
OMIM:246400 | OMIM:604856
MouseDO
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Acvr2b
activin A receptor type 2B
ISO
DNA:missense mutation:exon 2:R40H (human) DNA:missense mutation:cds:p.R383C (human) DNA:missense mutation:exon 2:c.119G>A,p.R40H (human)
RGD
PMID:9916847 PMID:30622330 PMID:21864452
RGD:329849115 , RGD:329853750 , RGD:329849116
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Sting1
stimulator of interferon response cGAMP interactor 1
disease_progression
ISO
associated with herpes simplex
RGD
PMID:27511736
RGD:39128217
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
ISO
RGD
PMID:10676886
RGD:14398737
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
DNA:point mutation:exon :p.S259A (mouse)
RGD
PMID:23391722
RGD:12910710
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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Acss2
acyl-CoA synthetase short-chain family member 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675
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Cpt1a
carnitine palmitoyltransferase 1A
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
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Esr1
estrogen receptor 1
ISO
RGD
PMID:18285421
RGD:4892300
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gls
glutaminase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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Jag2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
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Mmp3
matrix metallopeptidase 3
treatment
ISO
RGD
PMID:23035046
RGD:8693678
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum, plasma
RGD
PMID:18760908
RGD:5129697
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:lung
RGD
PMID:11306434
RGD:4892080
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nthl1
nth-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar
PMID:25741868
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
G
Pkm
pyruvate kinase M1/2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32078667
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
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Rictor
RPTOR independent companion of MTOR, complex 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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Slc16a1
solute carrier family 16 member 1
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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Srf
serum response factor
ISO
RGD
PMID:12654640
RGD:1580753
NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 PMID:9924605 PMID:10090883 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10533069 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11329144 PMID:11829138 PMID:12015165 PMID:12111193 PMID:12773163 PMID:12853839 PMID:14633685 PMID:14756965 PMID:15798777 PMID:16114042 PMID:16981987 PMID:17304050 PMID:17576681 PMID:18032745 PMID:18772611 PMID:18830229 PMID:19419980 PMID:19747374 PMID:20399389 PMID:20547222 PMID:21309039 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:22161988 PMID:22490766 PMID:22558107 PMID:22703879 PMID:22707517 PMID:22903760 PMID:22923433 PMID:23254740 PMID:23401075 PMID:23514105 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25525159 PMID:25722345 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26467025 PMID:26540169 PMID:26580448 PMID:27061015 PMID:27425891 PMID:27494029 PMID:28087349 PMID:28492532 PMID:28614114 PMID:28754097 PMID:28968464 PMID:29221145 PMID:29286531 PMID:29500070 PMID:29641532 PMID:29655203 PMID:29684080 PMID:29932062 PMID:29960980 PMID:30842500 PMID:31019026 PMID:31564432 PMID:32078667 PMID:32211034 PMID:32313033 PMID:32939031 PMID:33071758 PMID:34573383 PMID:36232477 More...
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis CTD Direct Evidence: marker/mechanism DNA:loss of heterozygosity
ClinVar CTD OMIM RGD
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 PMID:9412784 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10090883 PMID:10205261 PMID:10215407 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10577937 PMID:10607950 PMID:10633137 PMID:10732801 PMID:10735580 PMID:10823953 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11290735 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11829138 PMID:12015165 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12752578 PMID:14641237 PMID:14756965 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15483652 PMID:15595939 PMID:15798777 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16114042 PMID:16129702 PMID:16199547 PMID:16464865 PMID:16554133 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:17576681 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18792920 PMID:18854862 PMID:19254590 PMID:19259131 PMID:19369101 PMID:19747374 PMID:19823873 PMID:20108343 PMID:20165957 PMID:20301399 PMID:20399389 PMID:20498439 PMID:20633017 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21407264 PMID:21510812 PMID:21520333 PMID:21624971 PMID:21811971 PMID:21910228 PMID:22343534 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22805177 PMID:22867869 PMID:22903760 PMID:23006675 PMID:23217510 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:24728327 PMID:25039834 PMID:25088526 PMID:25203624 PMID:25231023 PMID:25281918 PMID:25338684 PMID:25432535 PMID:25525159 PMID:25599672 PMID:25637381 PMID:25724664 PMID:25741868 PMID:25782670 PMID:25862857 PMID:25927202 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26580448 PMID:26703369 PMID:27153395 PMID:27174333 PMID:27406250 PMID:27493206 PMID:27600092 PMID:27757534 PMID:27859028 PMID:27884173 PMID:28065512 PMID:28087349 PMID:28127866 PMID:28149746 PMID:28178598 PMID:28250423 PMID:28397210 PMID:28492532 PMID:28518168 PMID:28968464 PMID:29196670 PMID:29271092 PMID:29286531 PMID:29308833 PMID:29344138 PMID:29432982 PMID:29458892 PMID:29476190 PMID:29500070 PMID:29641532 PMID:29655203 PMID:29659200 PMID:29684080 PMID:29801666 PMID:29933521 PMID:30255984 PMID:30583724 PMID:30712878 PMID:30787465 PMID:30986793 PMID:31005478 PMID:31018109 PMID:31291687 PMID:31370276 PMID:31586081 PMID:31591157 PMID:31785789 PMID:31875159 PMID:32005694 PMID:32078667 PMID:32211034 PMID:32313033 PMID:32410215 PMID:32461654 PMID:32461669 PMID:32555378 PMID:32860008 PMID:32917966 PMID:34070849 PMID:34252879 PMID:34403804 PMID:34754157 PMID:34849272 PMID:35441217 PMID:35918040 PMID:36117189 PMID:36229297 PMID:37228977 PMID:10823953 PMID:20639436 More...
RGD:1580521 , RGD:11568662
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Vegfd
vascular endothelial growth factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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Gja1
gap junction protein, alpha 1
ISO
RGD
PMID:27899284
RGD:13592598
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Hoxa3
homeobox A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1673020
NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218
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Angpt2
angiopoietin 2
ISO
ClinVar Annotator: match by term: Lymphatic malformation 10
OMIM ClinVar
PMID:32908006
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Mcph1
microcephalin 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 10
ClinVar
PMID:32908006
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Tie1
tyrosine kinase with immunoglobulin-like and EGF-like domains 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 11
OMIM ClinVar
PMID:32947856
NCBI chr 5:132,000,013...132,019,658
Ensembl chr 5:132,000,015...132,019,592
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Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Lymphatic malformation 12
OMIM ClinVar
PMID:25741868 PMID:35235341
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 13
OMIM ClinVar
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Erg
ETS transcription factor ERG
ISO
ClinVar Annotator: match by term: Lymphatic malformation 14
OMIM ClinVar
PMID:36928819
NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Diffuse lymphatic malformation | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition
OMIM ClinVar
PMID:9536098 PMID:11001917 PMID:17576681 PMID:23479567 PMID:24033266 PMID:25741868 PMID:25741889 PMID:26333996 PMID:26780541 PMID:27250707 PMID:28492532 PMID:28619848 PMID:28716860 PMID:29396846 PMID:29786897 PMID:30187933 PMID:30237269 PMID:30244526 PMID:30655378 PMID:30867417 PMID:31040790 PMID:31624108 PMID:31680349 PMID:32251670 PMID:32410215 PMID:33686258 PMID:34656527 PMID:34681667 PMID:34737711 PMID:36122374 PMID:36595486 PMID:36701166 PMID:36959127 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Tbx19
T-box transcription factor 19
ISO
ClinVar Annotator: match by term: Lymphatic malformation 6
ClinVar
PMID:25741868
NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
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Calcrl
calcitonin receptor like receptor
ISO
ClinVar Annotator: match by term: Lymphatic malformation 8
OMIM ClinVar
PMID:25741868
NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
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Celsr1
cadherin, EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9
OMIM ClinVar
PMID:25741868 PMID:26855770 PMID:28492532 PMID:31215153 PMID:31403174
NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
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Abca13
ATP binding cassette subfamily A member 13
susceptibility
ISO
DNA:amplification:cds: (human, male)
RGD
PMID:27366209
RGD:152995256
NCBI chr14:83,873,397...84,376,138
Ensembl chr14:83,873,940...84,375,075
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Adam28
ADAM metallopeptidase domain 28
ISO
associated with breast cancer;DNA:hypermethylation:
RGD
PMID:25620615
RGD:153298970
NCBI chr15:43,774,463...43,840,726
Ensembl chr15:42,944,467...43,840,672
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Adgrb1
adhesion G protein-coupled receptor B1
disease_progression
ISO
associated with stomach cancer;
RGD
PMID:11172604
RGD:13831357
NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902
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Aicda
activation-induced cytidine deaminase
ISO
associated with stomach cancer;protein:increased expression:stomach (human)
RGD
PMID:21538122
RGD:127285638
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Angptl4
angiopoietin-like 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17130448
NCBI chr 7:14,550,288...14,557,797
Ensembl chr 7:14,550,311...14,556,519
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Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381893
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Aqp3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Arhgap5
Rho GTPase activating protein 5
ISO
associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx
RGD
PMID:25961434
RGD:11056278
NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
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Asxl1
ASXL transcriptional regulator 1
ISO
associated with colorectal cancer
RGD
PMID:32317519
RGD:126779580
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Axl
Axl receptor tyrosine kinase
ISO
associated Pancreatic Neoplasms
RGD
PMID:19252414
RGD:2325833
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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Bag1
BAG cochaperone 1
disease_progression
ISO
associated with Breast Neoplasms:protein:increased expression:breast
RGD
PMID:18430249
RGD:2292908
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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Bambi
BMP and activin membrane-bound inhibitor
ISO
associated with stomach cancer; protein:increased expression: :
RGD
PMID:24752577
RGD:14390158
NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
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Barhl2
BarH-like homeobox 2
ISO
associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa
RGD
PMID:27542258
RGD:14390167
NCBI chr14:3,340,465...3,345,362
Ensembl chr14:3,340,465...3,345,353
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Bcl2
BCL2, apoptosis regulator
ISO
associated with Breast Neoplasms;protein:increased expression:lymph node
RGD
PMID:18217456
RGD:2293013
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bik
BCL2-interacting killer
ISO
associated with cholangiocarcinoma;DNA:CNV::
RGD
PMID:16865775
RGD:14394820
NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
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Birc5
baculoviral IAP repeat-containing 5
disease_progression
ISO
associated with Cervix Neoplasms;mRNA:splice variant associated with Breast Neoplasms
RGD
PMID:17877643 PMID:17285241
RGD:2293098 , RGD:2293103
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29426936
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brd7
bromodomain containing 7
severity
ISO
protein:increased expression:lung:
RGD
PMID:22008115
RGD:9586442
NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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Bsg
basigin
disease_progression
ISO
associated with Breast Neoplasms
RGD
PMID:16004819
RGD:2289055
NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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Btk
Bruton tyrosine kinase
disease_progression
ISO
associated with lung adenocarcinoma;protein:increased expression:lung (human)
RGD
PMID:31200752
RGD:151347847
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cab39
calcium binding protein 39
ISO
associated with pancreatic cancer;RNA:increased expression:pancreas
RGD
PMID:28197410
RGD:14398834
NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
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Car9
carbonic anhydrase 9
ISO
associated with Cervix Neoplasms
RGD
PMID:17233814
RGD:2293196
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Casp9
caspase 9
ISO
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP:exon:rs1052576 (human)
RGD
PMID:17285546
RGD:13434907
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cav1
caveolin 1
disease_progression
ISO
associated with Melanoma
RGD
PMID:22134245
RGD:8661767
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cbl
Cbl proto-oncogene
ISO
associated with stomach carcinoma;protein:increased expression:stomach
RGD
PMID:31611438
RGD:126925223
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cblb
Cbl proto-oncogene B
ISO
associated with stomach carcinoma;
RGD
PMID:20038312
RGD:150540338
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
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Ccnd2
cyclin D2
ISO
associated with colorectal cancer;protein:increased expression:colorectum
RGD
PMID:19508551
RGD:151665111
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccne1
cyclin E1
ISO
associated with Carcinoma, Transitional Cell;protein:decreased expression
RGD
PMID:16949911
RGD:2289266
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Ccnh
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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Ccr5
C-C motif chemokine receptor 5
ISO
associated with Breast Neoplasms;mRNA:increased expression:lymph node
RGD
PMID:24301790
RGD:8551816
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16530813
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cd40
CD40 molecule
ISO
associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human)
RGD
PMID:21912605
RGD:8547780
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd44
CD44 molecule
ISO
associated with Breast Neoplasms, Colorectal Neoplasms, Stomach Neoplasms;mRNA, protein:splice variant, increased expression:breast, large intestine, stomach
RGD
PMID:16425351
RGD:2289356
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cdh1
cadherin 1
ISO
associated with Cervix Neoplasms associated with Breast Neoplasms
RGD
PMID:18097581 PMID:17649807
RGD:2296046 , RGD:2289498
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
associated with Eyelid Neoplasms; associated with Oral Squamous Cell Carcinoma;
RGD
PMID:19628749 PMID:15817070
RGD:8661799 , RGD:8662374
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
associated with Breast Neoplasms associated with non-small cell lung carcinoma
RGD
PMID:12015771 PMID:28601655
RGD:2293607 , RGD:13673921
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29426936
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Clptm1l
CLPTM1-like
ISO
associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus
RGD
PMID:25480402
RGD:150530497
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Clu
clusterin
ISO
associated with breast cancer;DNA:snp:promoter:g.27611345C>G (rs9331888) (human)
RGD
PMID:22037783
RGD:8963167
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Comt
catechol-O-methyltransferase
ISO
associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human)
RGD
PMID:10755383
RGD:8662330
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Crp
C-reactive protein
susceptibility
ISO
associated with Breast Neoplasm; DNA:polymorphism: :1846C>T(rs1205)(human)
RGD
PMID:24633920
RGD:9580226
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf1r
colony stimulating factor 1 receptor
ISO
associated with Breast Neoplasms
RGD
PMID:14734466
RGD:2293711
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
associated with Prostatic Neoplasms
RGD
PMID:10611340
RGD:4891523
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Ctnna1
catenin alpha 1
ISO
associated with Breast Neoplasms
RGD
PMID:12047765
RGD:2289795
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Ctnnb1
catenin beta 1
ISO
associated with Breast Neoplasms;protein:decreased expression
RGD
PMID:17908479
RGD:2289813
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cxcl12
C-X-C motif chemokine ligand 12
disease_progression
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:21633638
RGD:152023624
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
associated with nasopharynx carcinoma; protein:increased expression:lymph node (human)
RGD
PMID:16000558
RGD:151893515
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cycs
cytochrome c, somatic
ISO
associated with non-small cell lung carcinoma; protein:decreased expression:serum
RGD
PMID:25578497
RGD:13792769
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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Ddr1
discoidin domain receptor tyrosine kinase 1
severity
ISO
mRNA, protein:increased expression:mouth (human) mRNA:increased expression:kidney, lymph nodes (human)
RGD
PMID:31253192 PMID:27020590
RGD:151347620 , RGD:151347863
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
associated with oral squamous cell carcinoma
RGD
PMID:29945346
RGD:150429700
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Dnmt3b
DNA methyltransferase 3 beta
ISO
associated with Carcinoma, Pancreatic Ductal;
RGD
PMID:22919364
RGD:9589121
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Ebag9
estrogen receptor binding site associated antigen 9
ISO
associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node associated with Breast Neoplasms;protein:increased expression:breast
RGD
PMID:12845666 PMID:12054692 PMID:17187007
RGD:2289856 , RGD:2298489 , RGD:2289847
NCBI chr 7:75,810,950...75,828,902
Ensembl chr 7:75,810,594...75,861,248
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Egfr
epidermal growth factor receptor
treatment
ISO
associated with Squamous Cell Carcinoma of the Tongue
RGD
PMID:19380367
RGD:8551769
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
associated with Melanoma; associated with Esophageal Squamous Cell Carcinoma;
RGD
PMID:24658378 PMID:24805087
RGD:9590069 , RGD:9590071
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Epha2
Eph receptor A2
ISO
protein:increased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V associated with lung adenocarcinoma; protein:increased expression:lung (human) CTD Direct Evidence: marker/mechanism associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder
RGD CTD
PMID:21532492 PMID:21966491 PMID:18237248 PMID:18097576
RGD:153344600 , RGD:2289925 , RGD:2289926
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus associated with head and neck squamous cell carcinoma
RGD
PMID:17634423 PMID:20604875
RGD:2289944 , RGD:126790467
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression severity
ISO
associated with oral squamous cell carcinoma associated with lung non-small cell carcinoma associated with colorectal adenocarcinoma
RGD
PMID:27444519 PMID:21324275 PMID:16507107
RGD:126781762 , RGD:126790471 , RGD:126781766
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Fas
Fas cell surface death receptor
susceptibility
ISO
associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A
RGD
PMID:18068525
RGD:2298509
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fgf1
fibroblast growth factor 1
ISO
associated with Cervix Neoplasms;mRNA:increased expression:lymph node
RGD
PMID:17242701
RGD:2290286
NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357
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Fgfr2
fibroblast growth factor receptor 2
ISO
associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human)
RGD
PMID:20640597
RGD:7394846
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Flt3
Fms related receptor tyrosine kinase 3
disease_progression
ISO
associated with Prostatic Neoplasms
RGD
PMID:14566827
RGD:2302210
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Foxa1
forkhead box A1
ISO
associated with lung non-small cell carcinoma; mRNA:increased expression: :
RGD
PMID:29115441
RGD:151665751
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25485836
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Gpx3
glutathione peroxidase 3
ISO
associated with stomach carcinoma; DNA:hypermethylation:promoter
RGD
PMID:23071548
RGD:151665353
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
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Hmgb1
high mobility group box 1
IEP
associated with Adenocarcinoma, Colon
RGD
PMID:20616616
RGD:10402080
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Icam1
intercellular adhesion molecule 1
ISO
associated with Breast Neoplasms
RGD
PMID:21590495
RGD:8547712
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ier2
immediate early response 2
IMP
RGD
PMID:22120713
RGD:153323322
NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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Il13
interleukin 13
ISO
associated with Melanoma, Cutaneous Malignant;mRNA:increased expression:lymph node
RGD
PMID:17545514
RGD:8549587
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il18
interleukin 18
ISO
associated with Breast Neoplasms;protein:increased expression:serum
RGD
PMID:12902898
RGD:8655867
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Ing4
inhibitor of growth family, member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27806345
NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
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Iqsec1
IQ motif and Sec7 domain ArfGEF 1
disease_progression
ISO
associated with lung adenocarcinoma; protein:increased expression:lung (human)
RGD
PMID:21966491
RGD:153344600
NCBI chr 4:123,168,719...123,488,300
Ensembl chr 4:123,168,719...123,488,172
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Itgb1
integrin subunit beta 1
ISO
associated with non-small cell lung carcinoma,
RGD
PMID:28537888
RGD:13792830
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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Kcnj12
potassium inwardly-rectifying channel, subfamily J, member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34755307
NCBI chr10:45,696,621...45,745,528
Ensembl chr10:45,696,849...45,745,492
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Kdr
kinase insert domain receptor
treatment
ISO
associated with Squamous Cell Carcinoma of the Tongue
RGD
PMID:19380367
RGD:8551769
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kiss1
KiSS-1 metastasis-suppressor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21383688
NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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Klf7
KLF transcription factor 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37734194
NCBI chr 9:65,433,683...65,526,372
Ensembl chr 9:65,437,167...65,526,261
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Kmt2d
lysine methyltransferase 2D
ISO
associated with stomach cancer
RGD
PMID:30177394
RGD:150521710
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Lamc2
laminin subunit gamma 2
ISO
associated with lung squamous cell carcinoma;
RGD
PMID:23124251
RGD:13793371
NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
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Lrrc59
leucine rich repeat containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
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Macir
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29426936
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir125a
microRNA 125a
ISO
associated with stomach cancer;
RGD
PMID:22322911
RGD:21408544
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Mir152
microRNA 152
ISO
associated with breast cancer
RGD
PMID:22935141
RGD:19165152
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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Mir155
microRNA 155
disease_progression
ISO
associated with colon cancer
RGD
PMID:26885061 PMID:29893326 PMID:27856635
RGD:21079444 , RGD:21409756 , RGD:21079446
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir187
microRNA 187
ISO
associated with oral squamous cell carcinoma; RNA:increased expression:plasma
RGD
PMID:27542258
RGD:14390167
NCBI chr18:15,731,194...15,731,297
Ensembl chr18:15,731,194...15,731,297
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Mir224
microRNA 224
ISO
associated with colorectal cancer; mRNA:decreased expression:colorectal mucosa:
RGD
PMID:25919696
RGD:14398749
NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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Mir30a
microRNA 30a
ISO
associated with Colorectal Neoplasms
RGD
PMID:23486085
RGD:13432035
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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Mmp2
matrix metallopeptidase 2
disease_progression
ISO
associated with Tongue Neoplasms associated with Carcinoma, Ductal, Breast
RGD
PMID:23107277 PMID:23280016
RGD:8547824 , RGD:8655998
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3
matrix metallopeptidase 3
susceptibility
ISO
associated with breast cancer;DNA:deletion:promoter:-1170_-1172delA (human)
RGD
PMID:15161710 PMID:15161710
RGD:8662937 , RGD:8662937
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
disease_progression
ISO
associated with Carcinoma, Non-Small-Cell Lung;protein:increased expression:serum associated with Tongue Neoplasms associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:20704821 PMID:23107277 PMID:12487935
RGD:5129215 , RGD:8547824 , RGD:2298523
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msh2
mutS homolog 2
ISO
associated with laryngeal squamous cell carcinoma
RGD
PMID:24459922
RGD:126848797
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22644300
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17418620
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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Mta1
metastasis associated 1
ISO
associated with Carcinoma, Non-Small-Cell Lung;mRNA:increased expression:lung
RGD
PMID:11804687
RGD:9588220
NCBI chr 6:132,178,608...132,217,641
Ensembl chr 6:132,178,853...132,217,641
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Muc1
mucin 1, cell surface associated
ISO
associated with Common Bile Duct Neoplasms associated with Esophageal Neoplasms associated with Carcinoma, Renal Cell; associated with Gallbladder Neoplasms;protein:altered localization:gallbladder
RGD
PMID:16222735 PMID:21339746 PMID:10390012 PMID:11295067
RGD:2324649 , RGD:7349383 , RGD:7245968 , RGD:2324860
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
associated with chloangiocarcinoma;protein:increased expression:bile duct
RGD
PMID:16842244
RGD:2325168
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Ncam1
neural cell adhesion molecule 1
ISO
RGD
PMID:10086383
RGD:2326067
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
associated with Cervix Neoplasms; associated with Endometrial Neoplasms associated with Breast Neoplasms
RGD
PMID:8855975 PMID:8102131 PMID:9036878
RGD:2299062 , RGD:2299077 , RGD:2299061
NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
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Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
associated with Cervix Neoplasms; associated with Endometrial Neoplasms
RGD
PMID:8855975
RGD:2299062
NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538
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Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with Breast Neoplasms;DNA:polymorphisms:promoter, exon:-786T>C,p.E298D (human)
RGD
PMID:17262178
RGD:2292070
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Ogg1
8-oxoguanine DNA glycosylase
ISO
associated with breast cancer;DNA:missense mutation:cds:p.S326C (rs1052133) (human)
RGD
PMID:18977234
RGD:8657156
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pagr1
Paxip1-associated glutamate-rich protein 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chr 1:181,622,698...181,625,024
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Pdgfa
platelet derived growth factor subunit A
ISO
associated with Breast Neoplasms;mRNA:increased expression:breast
RGD
PMID:8619189
RGD:2292155
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
ISO
associated with Breast Neoplasms;mRNA:increased expression:lymph node
RGD
PMID:17674348
RGD:2292173
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdpk1
3-phosphoinositide dependent protein kinase-1
ISO
associated with non-small cell lung carcinoma;mRNA:increased expression:blood serum
RGD
PMID:25064732
RGD:13503320
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
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Pdpn
podoplanin
ISO
associated with Breast Neoplasms associated with Cervix Neoplasms
RGD
PMID:18165897 PMID:16528371
RGD:2292231 , RGD:2292237
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Pebp1
phosphatidylethanolamine binding protein 1
ISO
associated with Breast Neoplasms associated with Cervix Neoplasms
RGD
PMID:16243812 PMID:18191186
RGD:2302868 , RGD:2302867
NCBI chr12:39,302,864...39,307,064
Ensembl chr12:39,302,840...39,307,862
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
associated with Colorectal Neoplasms
RGD
PMID:25550888
RGD:13432030
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
ISO
associated with Colorectal Neoplasms
RGD
PMID:25550888
RGD:13432030
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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Pip5k1a
phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34755307
NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
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Pou5f1
POU class 5 homeobox 1
ISO
associated with Seminoma; associated with Carcinoma, Embryonal
RGD
PMID:15386301
RGD:2292442
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium
RGD
PMID:20021832
RGD:2317459
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Prex1
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
ISO
associated with Prostatic Neoplasms
RGD
PMID:19305425
RGD:2314605
NCBI chr 3:155,306,950...155,456,688
Ensembl chr 3:155,306,950...155,456,688
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Pten
phosphatase and tensin homolog
ISO
associated with Prostatic Neoplasms;protein:decreased expression:prostate associated with Breast Neoplasms
RGD
PMID:17163422 PMID:17919877
RGD:2292507 , RGD:2292499
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with Biliary Tract Neoplasms associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human) associated with Breast Neoplasms
RGD
PMID:18159174 PMID:20016751 PMID:18353210
RGD:2317165 , RGD:5135471 , RGD:2300128
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
associated with lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node
RGD
PMID:23906871
RGD:152176664
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ptpn13
protein tyrosine phosphatase, non-receptor type 13
ISO
associated with lung squamous cell carcinoma; protein:decreased expression:lymph node
RGD
PMID:23906871
RGD:152176664
NCBI chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563
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Ramp2
receptor activity modifying protein 2
disease_progression
ISO
associated with colorectal cancer; protein:increased expression:lymph node (human)
RGD
PMID:23634287
RGD:151708733
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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Ramp3
receptor activity modifying protein 3
ISO
associated with colorectal cancer; protein:increased expression:lymph node (human)
RGD
PMID:23634287
RGD:151708733
NCBI chr14:81,527,404...81,544,905
Ensembl chr14:81,527,385...81,544,902
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Rassf2
Ras association domain family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17013896
NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431
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Rbm10
RNA binding motif protein 10
ISO
associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human)
RGD
PMID:30405763
RGD:151356993
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland
RGD
PMID:17020979
RGD:2298757
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ret
ret proto-oncogene
ISO
associated with Pancreatic Neoplasms
RGD
PMID:18652760
RGD:2324925
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Rhoa
ras homolog family member A
ISO
associated with Bladder Neoplasms;protein:increased expression:lymph node associated with colorectal cancer
RGD
PMID:12855641 PMID:17597401
RGD:2298872 , RGD:13432052
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Rictor
RPTOR independent companion of MTOR, complex 2
ISO
associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human)
RGD
PMID:20978191
RGD:152995469
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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Runx1
RUNX family transcription factor 1
ISO
associated with Carcinoid Tumor
RGD
PMID:21636701
RGD:126779567
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381893
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
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Skp2
S-phase kinase associated protein 2
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:16080017
RGD:2315043
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Slc22a22
solute carrier family 22 member 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111
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Slc7a5
solute carrier family 7 member 5
severity
ISO
associated with stomach carcinoma associated with gastric adenocarcinoma;protein:increased expression: :
RGD
PMID:25908107 PMID:21501294
RGD:11052781 , RGD:151361203
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Smad4
SMAD family member 4
ISO
associated with Breast Neoplasms
RGD
PMID:11809701
RGD:2300007
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smo
smoothened, frizzled class receptor
ISO
associated with colorectal cancer
RGD
PMID:30784110
RGD:150520177
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Socs2
suppressor of cytokine signaling 2
ISO
associated with Prostatic Neoplasms
RGD
PMID:16707422
RGD:2298925
NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
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Socs3
suppressor of cytokine signaling 3
ISO
associated with Breast Neoplasms
RGD
PMID:18097573
RGD:2298901
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Sod2
superoxide dismutase 2
disease_progression
ISO
associated with tongue neoplasms; CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10853026 PMID:19381893 PMID:20618948 PMID:20618948
RGD:8547519
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sox2
SRY-box transcription factor 2
disease_progression
ISO
associated with Breast Neoplasms
RGD
PMID:24382260
RGD:8661670
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
associated with colon adenocarcinoma,
RGD
PMID:21282564
RGD:150520218
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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St14
ST14 transmembrane serine protease matriptase
ISO
associated with Endometrial Neoplasms
RGD
PMID:19443387
RGD:2315087
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21549414
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stk11
serine/threonine kinase 11
ISO
associated with Breast Neoplasms;protein:decreased expression
RGD
PMID:12114407
RGD:2291948
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tert
telomerase reverse transcriptase
disease_progression
ISO
associated with lung non-small cell carcinoma;
RGD
PMID:11679180
RGD:152977755
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:12487935
RGD:2298523
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
associated with Breast Neoplasms;mRNA:increased expression:breast
RGD
PMID:12828172
RGD:2290437
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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Timp4
TIMP metallopeptidase inhibitor 4
ISO
associated with Breast Neoplasms;mRNA:increased expression:breast
RGD
PMID:12828172
RGD:2290437
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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Tlr4
toll-like receptor 4
ISO
associated with Carcinoma, Ductal, Breast;
RGD
PMID:23338716
RGD:7794684
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tp53
tumor protein p53
ISO
associated with Penile Neoplasms associated with Carcinoma, Squamous Cell; associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P
RGD
PMID:18268397 PMID:18059331 PMID:18230179
RGD:2290533 , RGD:8547790 , RGD:2290534
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp53bp1
tumor protein p53 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
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Trmt11
tRNA methyltransferase 11 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:27,054,437...27,109,765
Ensembl chr 1:27,054,420...27,201,610
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Tsc2
TSC complex subunit 2
ISO
associated with Breast Neoplasms
RGD
PMID:15951164
RGD:11568707
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9062474
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Ttr
transthyretin
ISO
associated with colorectal cancer;protein:decreased expresion:blood serum (human)
RGD
PMID:21074777
RGD:151665155
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Tymp
thymidine phosphorylase
ISO
associated with Cholangiocarcinoma associated with Breast Neoplasms
RGD
PMID:11927969 PMID:10685502
RGD:2325027 , RGD:2293725
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Vegfa
vascular endothelial growth factor A
ISO
associated with Cervix Neoplasms associated with Breast neoplasms;
RGD
PMID:19783962 PMID:17597103
RGD:2315454 , RGD:7421574
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfc
vascular endothelial growth factor C
exacerbates disease_progression
ISO
associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human) associated with Lymphatic Metastasis; associated with thyroid diseases;mRNA:increased expression:thyroid gland: associated with Breast Neoplasms associated with Prostatic Neoplasms associated with Cervix Neoplasms
RGD
PMID:17034609 PMID:18061373 PMID:15289890 PMID:12203051 PMID:19923084 PMID:19608016 PMID:19589137 More...
RGD:2315484 , RGD:155630642 , RGD:7488946 , RGD:7483611 , RGD:2315469 , RGD:2315474 , RGD:2315475
NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
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Vegfd
vascular endothelial growth factor D
ISO
associated with Breast Neoplasms associated with Cervix Neoplasms
RGD
PMID:17951197 PMID:19589137
RGD:2315480 , RGD:2315475
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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Wrap53
WD repeat containing, antisense to TP53
ISO
associated with lung non-small cell carcinoma; associated with esophagus squamous cell carcinoma;
RGD
PMID:31281482 PMID:24626331
RGD:21081513 , RGD:21081532
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Acta2
actin alpha 2, smooth muscle
ISO
mRNA:increased expression:adipose tissue:
RGD
PMID:21510802
RGD:12879442
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Dchs1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Lymphedema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Flt4
Fms related receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Early onset lymphedema
CTD ClinVar
PMID:16965327 PMID:25741868
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Foxc2
forkhead box C2
ISO
lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA
RGD
PMID:11371511 PMID:15523639
RGD:1601216 , RGD:1601217
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892158
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
G
Gjc2
gap junction protein, gamma 2
ISO
DNA:missense mutations:cds:p.S48L, p.M210R (human) DNA:missense mutations:cds:multiple (human)
RGD
PMID:21266381 PMID:20537300
RGD:13208589 , RGD:13208590
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lymphedema | ClinVar Annotator: match by term: Lymphoedema
ClinVar
PMID:18564920 PMID:24339735 PMID:24728327 PMID:25637381 PMID:25741868 PMID:28492532 PMID:30530636 More...
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Pgf
placental growth factor
ISO
associated with Elephantiasis, Filarial;protein:increased expression:plasma
RGD
PMID:20889885
RGD:6483608
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 PMID:12485195 PMID:16081467 PMID:18197197 PMID:19760751 PMID:20301630 PMID:22768468 PMID:24278289 PMID:25252123 PMID:25741868 PMID:27276711 PMID:28492532 PMID:28724617 PMID:31460188 PMID:32411386 PMID:33897756 PMID:35716761 More...
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
G
Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
ClinVar
PMID:15523639
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
G
Foxo1
forkhead box O1
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
G
Foxo3
forkhead box O3
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Foxo4
forkhead box O4
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
G
Aicda
activation-induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23589568
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Bcl2l1
Bcl2-like 1
ISO
RGD
PMID:21998213
RGD:11353857
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
DNA:hypermethylation:promoter:
RGD
PMID:10602427
RGD:11252194
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Clptm1l
CLPTM1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Eng
endoglin
disease_progression
ISO
RGD
PMID:25030442
RGD:11041170
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
G
Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
G
Fcgr2a
Fc gamma receptor 2A
no_association treatment
ISO
DNA:polymorphism:exon:p.H131A (human)
RGD
PMID:15217834 PMID:20705761
RGD:11344968 , RGD:11344969
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr2b
Fc gamma receptor 2B
treatment
ISO
RGD
PMID:20705761
RGD:11344969
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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Fcgr3a
Fc gamma receptor 3A
no_association
ISO
DNA:polymorphism:exon:p.F158V (rs396991) (human)
RGD
PMID:15217834
RGD:11344968
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:8569275
RGD:11059504
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:12010828
RGD:10755404
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Ipcef1
interaction protein for cytohesin exchange factors 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr 1:43,237,903...43,451,735
Ensembl chr 1:43,269,202...43,427,969
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17463288
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3162254
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770046
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Pot1
protection of telomeres 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502782 PMID:24292274
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Runx1
RUNX family transcription factor 1
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISS
MouseDO
NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Atm
ATM serine/threonine kinase
IMP
DNA:missense mutation:cds: DNA:deletion:exon:
RGD
PMID:27895165 PMID:28007901
RGD:12879393 , RGD:12879399
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Atmem1Kyo
ATM serine/threonine kinase; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:28007901
RGD:12879399
G
Atmm1Kyo
ATM serine/threonine kinase; ENU induced mutant 1, Kyo
IMP
RGD
PMID:27895165
RGD:12879393
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Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17941976
NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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Ccnb1
cyclin B1
ISO
RGD
PMID:19666607
RGD:2315935
NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
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Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28736328
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9488045
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9488045
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Chd4
chromodomain helicase DNA binding protein 4
ISO
DNA:missense mutation:CDS p.D140E (rs7479004) (human)
RGD
PMID:25407497
RGD:153323305
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
G
Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
ISO
RGD
PMID:11238917
RGD:11567233
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:23023262 PMID:24563539 PMID:26619011
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
G
Hmga1
high mobility group AT-hook 1
ISS
MouseDO
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11980663
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
G
Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chr 4:178,185,418...178,218,484
G
Mad1l1
mitotic arrest deficient 1 like 1
ISO
RGD
PMID:11423979
RGD:1599865
NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
G
Malt1
MALT1 paracaspase
ISO
RGD
PMID:10523859
RGD:1599913
NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
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Mir143
microRNA 143
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28736328
NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110
G
Mir155
microRNA 155
ISS
MouseDO
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mlh1
mutL homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15700306
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18798262
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:25741868
NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17441966
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pafah1b2
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2
ISO
DNA:translocation:intron:t(ll;14)(q23;q32) (human)
RGD
PMID:11983068
RGD:4107059
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22800774
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
susceptibility
ISO
RGD
PMID:21670604
RGD:10043812
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:17609424
RGD:6483350
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287727
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptger4
prostaglandin E receptor 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19075289
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 PMID:12634870 PMID:12960218 PMID:14644997 PMID:15001945 PMID:15928039 PMID:16498234 PMID:17497712 PMID:19077116 PMID:20301303 PMID:21407260 PMID:21533187 PMID:22420426 PMID:22465605 PMID:22711529 PMID:23624134 PMID:23771920 PMID:24033266 PMID:24037001 PMID:24219368 PMID:24451042 PMID:24458522 PMID:24803665 PMID:24935154 PMID:25156961 PMID:25337068 PMID:25741868 PMID:25741869 PMID:25862627 PMID:26084119 PMID:26242988 PMID:26456833 PMID:26467025 PMID:26495027 PMID:26607044 PMID:26817465 PMID:27038324 PMID:27104176 PMID:28492532 PMID:29493581 PMID:29907801 PMID:30055033 PMID:30311386 PMID:30417923 PMID:30692697 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32371413 PMID:32901917 PMID:34008892 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
RGD
PMID:9047386
RGD:2298891
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rpl11
ribosomal protein L11
susceptibility
ISO
RGD
PMID:26489471
RGD:11535971
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Sox4
SRY-box transcription factor 4
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lymphoma
CTD ClinVar
PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:9242456 PMID:9546439 PMID:9569050 PMID:9704930 PMID:10411893 PMID:10797439 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15722483 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17606709 PMID:18511570 PMID:19258306 PMID:19367569 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24641375 PMID:24651012 PMID:24810334 PMID:25157968 PMID:25612911 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28492532 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31775759 PMID:32000721 PMID:32906206 PMID:33372952 PMID:33471991 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Twf1
twinfilin actin-binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chr 7:125,715,938...125,727,834
Ensembl chr 7:125,716,015...125,727,894
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Aicda
activation-induced cytidine deaminase
disease_progression
ISO
RGD
PMID:18090274
RGD:32716407
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:9817281
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12176798
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:11157493
RGD:9743929
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:26325374
RGD:11062098
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11594583
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
DNA:mutation:cds:1013C>G(p.S338X)(human)
RGD
PMID:24711662
RGD:11352304
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
G
Fcgr3a
Fc gamma receptor 3A
disease_progression treatment
ISO
DNA:polymorphism: : DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:21564078 PMID:15659493
RGD:11040774 , RGD:11352262
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:bone marrow
RGD
PMID:32763516
RGD:401827827
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Il10
interleukin 10
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080
RGD:11049165
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:19573080
RGD:11049165 , RGD:11049165
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:23355206
RGD:11530052
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic
CTD ClinVar OMIM
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 PMID:30126942 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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B2m
beta-2 microglobulin
ISO
associated with kidney transplantation associated with Herpesviridae Infections
RGD
PMID:9067691 PMID:16282467
RGD:6482705 , RGD:6483039
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Ccl22
C-C motif chemokine ligand 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35534561
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:deletions
RGD
PMID:7539157 PMID:15148335
RGD:1600310 , RGD:11049166
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Flt3
Fms related receptor tyrosine kinase 3
ISO
RGD
PMID:15718420
RGD:11049481
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Itk
IL2-inducible T-cell kinase
ISO
ClinVar Annotator: match by term: Lymphoproliferative disorder
ClinVar
NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
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Klrk1
killer cell lectin like receptor K1
disease_progression
ISO
associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:22105417
RGD:39128180
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:22105417
RGD:39128180
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Duncan disease
ClinVar
PMID:25741868
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Sh2d1a
SH2 domain containing 1A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Epstein Barr virus infection familial fatal | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome
CTD ClinVar
PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 PMID:10229804 PMID:10549287 PMID:10556288 PMID:10598819 PMID:10691868 PMID:10694488 PMID:10898506 PMID:10934222 PMID:11034354 PMID:11049992 PMID:11133747 PMID:11159547 PMID:11414741 PMID:11477068 PMID:11493483 PMID:11520777 PMID:11678908 PMID:12224001 PMID:12356686 PMID:14583885 PMID:15359110 PMID:15632210 PMID:15661030 PMID:15682426 PMID:15711562 PMID:15908972 PMID:15992610 PMID:16199547 PMID:16328363 PMID:16720617 PMID:17576681 PMID:18055393 PMID:19621458 PMID:19937601 PMID:20632414 PMID:20660790 PMID:21119115 PMID:21707584 PMID:21815800 PMID:22433061 PMID:22493517 PMID:22970278 PMID:23143765 PMID:23280491 PMID:23829589 PMID:24616127 PMID:24723092 PMID:24923536 PMID:24985396 PMID:25741868 PMID:26305518 PMID:27209435 PMID:28482391 PMID:28492532 PMID:28816794 PMID:29604111 PMID:29709555 PMID:30572125 PMID:31415280 PMID:32150605 PMID:32542393 PMID:32888943 PMID:33329693 PMID:35367395 More...
NCBI chr X:121,373,693...121,401,923
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Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Duncan disease
ClinVar
PMID:25741868
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:deletion:3' utr:*55_*58delTGTG (human)
RGD
PMID:16734634
RGD:5684949
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22859607
RGD:6892715
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:nonsense mutation
RGD
PMID:10560675
RGD:1601413
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Xiap
X-linked inhibitor of apoptosis
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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Cyfip2
cytoplasmic FMR1 interacting protein 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:30,621,318...30,741,113
Ensembl chr10:30,621,318...30,741,113
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Fndc9
fibronectin type III domain containing 9
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:30,664,435...30,668,213
Ensembl chr10:30,667,091...30,667,771
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Garin3
golgi associated RAB2 interactor family member 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:30,829,877...30,833,115
Ensembl chr10:30,829,877...30,833,111
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Havcr1
hepatitis A virus cellular receptor 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Havcr2
hepatitis A virus cellular receptor 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Itk
IL2-inducible T-cell kinase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8985255 PMID:9536098 PMID:16199547 PMID:16860760 PMID:17412921 PMID:17576681 PMID:19425169 PMID:19535334 PMID:19701889 PMID:19717557 PMID:21109689 PMID:22289921 PMID:25339095 PMID:25741868 PMID:26056787 PMID:27454071 PMID:28492532 PMID:31388699 PMID:32150605 PMID:32628964 PMID:32888943 PMID:34170459 More...
NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
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Med7
mediator complex subunit 7
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:30,842,330...30,857,873
Ensembl chr10:30,842,292...30,859,220
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Nipal4
NIPA-like domain containing 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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Sgcd
sarcoglycan, delta
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:31,346,480...32,328,364
Ensembl chr10:31,280,511...31,724,840
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Timd4
T-cell immunoglobulin and mucin domain containing 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chr10:31,185,751...31,221,843
Ensembl chr10:31,185,731...31,220,966
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Acrbp
acrosin binding protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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Acsm4
acyl-CoA synthetase medium-chain family member 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
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Ano2
anoctamin 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
G
Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
G
C1r
complement C1r
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
G
C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
G
C1s
complement C1s
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
G
Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd27
CD27 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22197273 PMID:22801960 PMID:24033266 PMID:25640679 PMID:25741868 PMID:25843314 PMID:28492532 PMID:30293248 PMID:32499645 PMID:32603431 PMID:32888943 More...
NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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Cd4
Cd4 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,668,878...157,695,366
G
Cd9
CD9 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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Chd4
chromodomain helicase DNA binding protein 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Clec4a1
C-type lectin domain family 4, member A1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
G
Clec4a3
C-type lectin domain family 4, member A3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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Clec4b2
C-type lectin domain family 4, member B2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
G
Clec4e
C-type lectin domain family 4, member E
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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Clec6a-ps1
C-type lectin domain family 6, member A, pseudogene 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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Cops7a
COP9 signalosome subunit 7A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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Dppa3
developmental pluripotency-associated 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 Ensembl chr 5:155,815,296...155,854,861
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Dyrk4
dual specificity tyrosine phosphorylation regulated kinase 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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Fam90a1a
family with sequence similarity 90 member A1A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
G
Ferry3
FERRY endosomal RAB5 effector complex subunit 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Fgf6
fibroblast growth factor 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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Galnt8
polypeptide N-acetylgalactosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,626,438...159,650,327
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
G
Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
G
Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
G
Gpr162
G protein-coupled receptor 162
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
G
Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,551,276...157,552,924
G
Iffo1
intermediate filament family orphan 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
G
Ing4
inhibitor of growth family, member 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
G
Kcna1
potassium voltage-gated channel subfamily A member 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
G
Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
G
Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
G
Lag3
lymphocyte activating 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
G
Lpar5
lysophosphatidic acid receptor 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
G
Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
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Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
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Ltbr
lymphotoxin beta receptor
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,523,679...157,523,747
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Mlf2
myeloid leukemia factor 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
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Mrpl51
mitochondrial ribosomal protein L51
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
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Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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Ncapd2
non-SMC condensin I complex, subunit D2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
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Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
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Nop2
NOP2 nucleolar protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
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Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
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Pianp
PILR alpha associated neural protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
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Plekhg6
pleckstrin homology and RhoGEF domain containing G6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,163,443...158,182,628
Ensembl chr 4:158,162,969...158,182,271
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Ptms
parathymosin
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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Rad51ap1
RAD51 associated protein 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,759,454...159,772,473
Ensembl chr 4:159,759,459...159,772,524
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Rimklb
ribosomal modification protein rimK-like family member B
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
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Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Slc2a3
solute carrier family 2 member 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Spsb2
splA/ryanodine receptor domain and SOCS box containing 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
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Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,021,454...158,028,905
G
Tigar
TP53 induced glycolysis regulatory phosphatase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:159,927,136...159,946,077
Ensembl chr 4:159,927,139...159,946,029
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
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Vamp1
vesicle-associated membrane protein 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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Vwf
von Willebrand factor
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:25741868
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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Zfp384
zinc finger protein 384
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
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Cd70
Cd70 molecule
ISO
ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3
OMIM ClinVar
PMID:28011863 PMID:28011864
NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715
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Il18
interleukin 18
ISO
associated with Arthritis, Juvenile;protein:increased expression:serum
RGD
PMID:20472718
RGD:8655917
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Nlrc4
NLR family, CARD domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25217959
NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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Prf1
perforin 1
ISO
associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human)
RGD
PMID:20019066
RGD:6482811
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
G
Rcbtb2
RCC1 and BTB domain containing protein 2
ISS
MouseDO
NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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Ak1
adenylate kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
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Arhgap29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow, peripheral blood (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22383795 PMID:26174628 PMID:24060591
RGD:11352827
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cd79b
CD79b molecule
treatment
ISO
protein:decreased expression:blood, B cell (human) human cells in mouse model
RGD
PMID:10329919 PMID:17374736
RGD:11531139 , RGD:151665154
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Eif4e
eukaryotic translation initiation factor 4E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 2:227,066,519...227,099,261
Ensembl chr 2:227,066,673...227,098,683
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Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Pramex1
PRAME like, X-linked 1
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Tnfrsf10b
TNF receptor superfamily member 10b
susceptibility
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) DNA:SNP:exon:626C>G, 1322A>G (human)
RGD
PMID:16217763 PMID:15531454
RGD:11038717 , RGD:11038718
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Wnt10a
Wnt family member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
G
Wnt3
Wnt family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099
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Bcl10
BCL10, immune signaling adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Gfi1
growth factor independent 1 transcriptional repressor
disease_progression
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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RT1-Ba
RT1 class II, locus Ba
ISO
associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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H19
H19 imprinted maternally expressed transcript
disease_progression
ISO
DNA:SNPs:intron: (rs2839698) (human)
RGD
PMID:34077009
RGD:243048423
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33323469 PMID:33532864 More...
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Kif11
kinesin family member 11
ISO
ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
OMIM ClinVar
PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 PMID:22653704 PMID:24281367 PMID:25115524 PMID:25124931 PMID:25741868 PMID:25934493 PMID:26472404 PMID:26566857 PMID:27212378 PMID:28492532 PMID:30452590 PMID:30792901 PMID:31077665 PMID:31130284 PMID:32214227 PMID:33137195 PMID:33619735 PMID:34128965 More...
NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Myd88
MYD88, innate immune signal transduction adaptor
ISS
MouseDO
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nefh
neurofilament heavy chain
ISO
associated with Peripheral Nervous System Diseases
RGD
PMID:12536221
RGD:9693726
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
PMID:16804045 PMID:25741868 PMID:28492532 PMID:36572623
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Kmt2b
lysine methyltransferase 2B
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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Map2k2
mitogen activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
PMID:25741868
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Mpeg1
macrophage expressed 1
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:31309983 PMID:32051554 PMID:33692461
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Abcg2
ATP binding cassette subfamily G member 2
treatment
ISO
RGD
PMID:26314844 PMID:16917002
RGD:11081075 , RGD:11081144
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
ISO
protein:increased activity:serum
RGD
PMID:22345095
RGD:11038914
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum
ClinVar RGD
PMID:26619011 PMID:32856850
RGD:329955356
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcl2l10
Bcl2-like 10
ISO
protein:increased expression:bone marrow :
RGD
PMID:27455953
RGD:14392808
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Bcorl1
BCL6 co-repressor-like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Bnip3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172295
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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Cbl
Cbl proto-oncogene
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cbx7
chromobox 7
susceptibility
ISO
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23955597 PMID:23955597
RGD:11352716
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human)
RGD
PMID:28035364 PMID:25061178
RGD:329845528 , RGD:329845546
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccnd1
cyclin D1
susceptibility
ISO
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism DNA:snp:exon:c.870G>A (rs603965) (human)
OMIM ClinVar CTD RGD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 PMID:15755896 PMID:23502783 More...
RGD:1581171 , RGD:11353784
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cd40
CD40 molecule
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:15565183 PMID:27243341 PMID:22403003
RGD:11352240 , RGD:11352268 , RGD:11352251
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:bone marrow, plasma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16611307 PMID:22705596
RGD:11354971
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:hypermethylation:: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16008847 PMID:12681979
RGD:11252185
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2c
cyclin-dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278
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Cfhr1
complement factor H-related 1
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crbn
cereblon
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma
CTD ClinVar
PMID:26186254
NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms: :
RGD
PMID:17666363 PMID:20684753
RGD:11352748 , RGD:11352804
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
no_association
ISO
DNA:polymorphisms: :
RGD
PMID:20684753
RGD:11352804
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:exon:rs2234922 (human) DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD RGD
PMID:16949155 PMID:19736056 PMID:24521996 PMID:16949155
RGD:11252116 , RGD:11252122 , RGD:11252121
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
DNA:SNP: :rs735482 (human)
RGD
PMID:21435719
RGD:10450871
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression sexual_dimorphism
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
RGD
PMID:22183071 PMID:17131345
RGD:11252199 , RGD:401827277
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Faslg
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fcgr2a
Fc gamma receptor 2A
disease_progression susceptibility
ISO
DNA:polymorphism: :rs1801274(human)
RGD
PMID:25850245 PMID:17315188
RGD:11040778 , RGD:11040938
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
CTD ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:21936542 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:26521986
RGD:11075232
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
severity no_association
ISO IAGP
RGD
PMID:17653713 PMID:15136237
RGD:10450826 , RGD:10450846
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
disease_progression treatment no_association
ISO
DNA:polymorphism: : DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:23953887 PMID:17512053 PMID:18061666
RGD:10755413 , RGD:11075094 , RGD:10755419
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:15136237 PMID:12624497
RGD:10450846 , RGD:10450847
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H19
H19 imprinted maternally expressed transcript
severity
ISO
RNA:decrased expression:blood serum (human)
RGD
PMID:29470951
RGD:156430335
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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H3c1
H3 clustered histone 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.C282Y (human)
RGD
PMID:10383894
RGD:8694350
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum:
RGD
PMID:7834632 PMID:7686390
RGD:11354981 , RGD:11520780
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum
RGD
PMID:11307152 PMID:11022130
RGD:11041888 , RGD:11049458
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human)
RGD
PMID:25469832 PMID:1777241 PMID:17926179
RGD:11049156 , RGD:11059513 , RGD:11051973
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)
RGD
PMID:17926179
RGD:11051973
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:snp: :11100C>T (human) DNA:repeats:intron:
RGD
PMID:17926179 PMID:10848780
RGD:11051973 , RGD:11522764
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Irf4
interferon regulatory factor 4
treatment disease_progression
ISO
DNA:translocation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696
RGD:11526161 , RGD:11530055 , RGD:11530019
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 PMID:16321859 More...
RGD:1581756
NCBI chr 4:178,185,418...178,218,484
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Lig4
DNA ligase 4
ISO
DNA:polymorphisms ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 PMID:12471202 More...
RGD:1600305
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Maf
MAF bZIP transcription factor
ISS
OMIM:254500
MouseDO
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M694V(human)
RGD
PMID:25202401
RGD:11531123
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mir155
microRNA 155
disease_progression
ISO
miRNA:decreased expression:serum
RGD
PMID:25497370 PMID:28446295
RGD:21079441 , RGD:24922226
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir17
microRNA 17
disease_progression
ISO
miRNA:increased expression:plasma cell
RGD
PMID:23718138
RGD:329337383
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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Mir320a
microRNA 320a
ameliorates
ISO
human gene in mouse model
RGD
PMID:27086852
RGD:155882577
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir92a1
microRNA 92a-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncor2
nuclear receptor co-repressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
ISO
RGD
PMID:16540234 PMID:12377412
RGD:2298898 , RGD:2298895
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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Nono
non-POU domain containing, octamer-binding
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Notch2
notch receptor 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD RGD
PMID:16949155 PMID:18156703 PMID:18061666
RGD:10769348 , RGD:10755419
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:24335104 More...
RGD:11535049
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nuak1
NUAK family kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pf4
platelet factor 4
ameliorates
ISO
RGD
PMID:21693026
RGD:329901828
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Pml
PML nuclear body scaffold
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Polr1g
RNA polymerase I subunit G
sexual_dimorphism
ISO
DNA:SNP:exon 1: p.G-21A (rs967591) (human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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Pon1
paraoxonase 1
severity susceptibility treatment
ISO
protein:decreased activity:serum (human) DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:25520116 PMID:15136237 PMID:22348216
RGD:11552578 , RGD:10450846 , RGD:11040544
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pramex1
PRAME like, X-linked 1
severity
ISO
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ranbp2
RAN binding protein 2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rbbp8
RB binding protein 8, endonuclease
exacerbates
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:30622325
RGD:401940173
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Rbp1
retinol binding protein 1
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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RT1-CE16
RT1 class I, locus CE16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17283154
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Runx1
RUNX family transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15908783 PMID:15908783
RGD:1581238
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation: :
CTD RGD
PMID:18172295 PMID:23699600
RGD:11073605
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
DNA:hypermethylation: : protein:decreased expression:serum:
RGD
PMID:23699600 PMID:22560388
RGD:11073605 , RGD:11073614
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
treatment no_association
ISO
DNA:SNP:promoter:-238G>A (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:12200397 PMID:12815949
RGD:10449450 , RGD:10449453
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
treatment
ISO
RGD
PMID:16531263
RGD:11038719
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf17
TNF receptor superfamily member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
disease_progression treatment
ISO
DNA:polymorphism:cds:p.R72P(human) ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis DNA:deletion: : protein:increased expression:nucleus:
ClinVar RGD
PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:9020384 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 PMID:24611901 PMID:12745272 PMID:22261445 More...
RGD:11073716 , RGD:11075073 , RGD:11073728
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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Tyms
thymidylate synthetase
treatment no_association
ISO
DNA:polymorphism: : DNA:repeats:5'UTR:
RGD
PMID:17512053 PMID:17655928
RGD:11075094 , RGD:11075095
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Ulk4
unc-51 like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)
RGD
PMID:24687381
RGD:11079182
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xdh
xanthine dehydrogenase
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Xrcc3
X-ray repair cross complementing 3
disease_progression
ISO
DNA:SNP,haplotype:: p.T241M (rs861535) (Human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNP:3'-UTR (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Clu
clusterin
disease_progression
ISO
RGD
PMID:23702390
RGD:8923490
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis, dermis (human)
RGD
PMID:24127318
RGD:8695934
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*03 (human)
RGD
PMID:15761416
RGD:7483574
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Sod2
superoxide dismutase 2
ISO
protein:increased expression:skin:
RGD
PMID:20833513
RGD:8547521
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Abcb1a
ATP binding cassette subfamily B member 1A
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Cd274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Fas
Fas cell surface death receptor
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased expression:nasal cavity (human)
RGD
PMID:17225522
RGD:153298933
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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Axl
Axl receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
PMID:28492532
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Cul3
cullin 3
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Igf1r
insulin-like growth factor 1 receptor
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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Ptprs
protein tyrosine phosphatase, receptor type, S
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 9:1,245,408...1,307,015
Ensembl chr 9:1,245,410...1,306,947
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Runx1t1
RUNX1 partner transcriptional co-repressor 1
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased expression:cerebellum:
RGD
PMID:20883783
RGD:8693571
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Npc1
NPC intracellular cholesterol transporter 1
ISS ISO
ClinVar Annotator: match by term: Niemann-Pick disease
MouseDO ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33099109 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO ISS
MouseDO RGD
PMID:11567215
RGD:1601483
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Smpd1
sphingomyelin phosphodiesterase 1
susceptibility
ISO ISS
Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:12369017 PMID:12631268 PMID:12712061 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15877209 PMID:16010684 PMID:16264060 PMID:17011332 PMID:17876723 PMID:18625664 PMID:18815062 PMID:19405096 PMID:20111001 PMID:23252888 PMID:23356216 PMID:23430949 PMID:24033266 PMID:24767253 PMID:25741868 PMID:25834946 PMID:25933391 PMID:26049896 PMID:26499107 PMID:26790753 PMID:26981555 PMID:27238910 PMID:27338287 PMID:27435900 PMID:27725636 PMID:28259515 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28703315 PMID:29140481 PMID:29556840 PMID:29995201 PMID:30788890 PMID:30795770 PMID:31122880 PMID:31965297 PMID:32292456 PMID:33675270 PMID:34273913 PMID:35747619 PMID:12556236 More...
RGD:1601336
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
G
Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
G
Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
disease_progression
ISO
protein:decreased expression:cerebellum (mouse)
RGD
PMID:16277603
RGD:6482797
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:36007526 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
G
Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15612058 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25301364 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32280632 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:34273913 PMID:34554397 PMID:34867278 PMID:35342016 PMID:35747619 PMID:35883096 PMID:36195244 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
G
Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:36007526 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
G
Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type B
ClinVar
PMID:25741868 PMID:28492532 PMID:29485843
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
G
Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8225311 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:9536098 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12694237 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17576681 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23724191 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24643943 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26084044 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:33763395 PMID:34273913 PMID:34554397 PMID:34660203 PMID:34867278 PMID:35747619 PMID:35883096 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
G
Abhd3
abhydrolase domain containing 3, phospholipase
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,723,203...1,778,488
Ensembl chr18:1,720,718...1,803,428
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:18591368
RGD:10047095
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
G
Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
G
Ankrd29
ankyrin repeat domain 29
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,436,301...3,494,292
Ensembl chr18:3,436,303...3,494,296
G
Cables1
Cdk5 and Abl enzyme substrate 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,076,556...3,181,181
Ensembl chr18:3,075,524...3,181,181
G
Esco1
establishment of sister chromatid cohesion N-acetyltransferase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,630,560...1,686,803
Ensembl chr18:1,631,954...1,686,942
G
G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C
ClinVar
PMID:8364584 PMID:8471773 PMID:10502785 PMID:11793482 PMID:16329560 PMID:16607506 PMID:16927025 PMID:20203002 PMID:25541721 PMID:25741868 PMID:28492532 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30315739 PMID:31489982 PMID:34659341 PMID:36681081 More...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
G
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
G
Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
G
Jak2
Janus kinase 2
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Lama3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
G
Lipa
lipase A, lysosomal acid type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20557099
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
G
Mib1
MIB E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689
G
Mir1
microRNA 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,887,537...1,887,623
G
Mir133a1
microRNA 133a-1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,885,082...1,885,168
G
Npc1
NPC intracellular cholesterol transporter 1
ISO ISS
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form OMIM:257220 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 PMID:9211850 PMID:9245994 PMID:9536098 PMID:9634529 PMID:9744920 PMID:9802331 PMID:9927649 PMID:10419504 PMID:10480349 PMID:10521290 PMID:10521297 PMID:11182931 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11545687 PMID:11754101 PMID:12205649 PMID:12401890 PMID:12408188 PMID:12554680 PMID:12719428 PMID:12813037 PMID:12955717 PMID:12974729 PMID:14639697 PMID:14970192 PMID:15099022 PMID:15130691 PMID:15347664 PMID:15459971 PMID:15465421 PMID:15596783 PMID:15774455 PMID:15937921 PMID:16086131 PMID:16098014 PMID:16126423 PMID:16138904 PMID:16143556 PMID:16199547 PMID:16720792 PMID:16778374 PMID:16802107 PMID:17003072 PMID:17160617 PMID:17576681 PMID:17973331 PMID:17989072 PMID:18081003 PMID:18216017 PMID:19013089 PMID:19206179 PMID:19223215 PMID:19252935 PMID:19307542 PMID:19563754 PMID:19609713 PMID:19718781 PMID:19744920 PMID:19763152 PMID:19900398 PMID:20301473 PMID:20307669 PMID:20489167 PMID:20521171 PMID:20554533 PMID:20718790 PMID:20826119 PMID:20882348 PMID:20981092 PMID:21245028 PMID:21436030 PMID:21550990 PMID:22065762 PMID:22216111 PMID:22269206 PMID:22326530 PMID:22406018 PMID:22476655 PMID:22505584 PMID:22676771 PMID:22704015 PMID:22750297 PMID:22995991 PMID:23142039 PMID:23146215 PMID:23183285 PMID:23427322 PMID:23430855 PMID:23433426 PMID:23453666 PMID:23487299 PMID:23593294 PMID:23597521 PMID:23653225 PMID:23685560 PMID:23711246 PMID:23757202 PMID:23773996 PMID:23774949 PMID:23791518 PMID:23821321 PMID:24001525 PMID:24033266 PMID:24035292 PMID:24178705 PMID:24386122 PMID:24506780 PMID:24570279 PMID:24676439 PMID:24767253 PMID:24891511 PMID:24915861 PMID:24928400 PMID:25071864 PMID:25131710 PMID:25149939 PMID:25236789 PMID:25238906 PMID:25239094 PMID:25326635 PMID:25326637 PMID:25349751 PMID:25425405 PMID:25497598 PMID:25536905 PMID:25590979 PMID:25637190 PMID:25640679 PMID:25741868 PMID:25764212 PMID:25873482 PMID:25888393 PMID:25989649 PMID:26019327 PMID:26075876 PMID:26108224 PMID:26206375 PMID:26255038 PMID:26284228 PMID:26338816 PMID:26467025 PMID:26666848 PMID:26771826 PMID:26788393 PMID:26790753 PMID:26830282 PMID:26910362 PMID:26937389 PMID:26939636 PMID:26981555 PMID:26984608 PMID:27016452 PMID:27139891 PMID:27193329 PMID:27234403 PMID:27238017 PMID:27250337 PMID:27256227 PMID:27288778 PMID:27366019 PMID:27378690 PMID:27528516 PMID:27549128 PMID:27550898 PMID:27581084 PMID:27599728 PMID:27706244 PMID:27792009 PMID:27900365 PMID:27923633 PMID:27928380 PMID:27959697 PMID:28105569 PMID:28130309 PMID:28155026 PMID:28167839 PMID:28193631 PMID:28222799 PMID:28328115 PMID:28387450 PMID:28413817 PMID:28472934 PMID:28480683 PMID:28492532 PMID:28666962 PMID:28703315 PMID:28710748 PMID:28776642 PMID:28784760 PMID:28802248 PMID:28808920 PMID:28865947 PMID:28883878 PMID:29100954 PMID:29165669 PMID:29197565 PMID:29429782 PMID:29453517 PMID:29476731 PMID:29631617 PMID:29971198 PMID:30019023 PMID:30119649 PMID:30153451 PMID:30202070 PMID:30285904 PMID:30487145 PMID:30552426 PMID:30556376 PMID:30609409 PMID:30633340 PMID:30665703 PMID:30737051 PMID:30820861 PMID:30923329 PMID:30985853 PMID:31130284 PMID:31139477 PMID:31296176 PMID:31497485 PMID:31543266 PMID:31589614 PMID:31635081 PMID:31639011 PMID:31699992 PMID:31743419 PMID:31754021 PMID:31980526 PMID:32060698 PMID:32138288 PMID:32144825 PMID:32222928 PMID:32248828 PMID:32289814 PMID:32317543 PMID:32482919 PMID:32488064 PMID:32544384 PMID:32709131 PMID:32732226 PMID:32745579 PMID:32860008 PMID:32921771 PMID:32931663 PMID:33021976 PMID:33027564 PMID:33099109 PMID:33138774 PMID:33139814 PMID:33163944 PMID:33258288 PMID:33624863 PMID:33947371 PMID:33990640 PMID:34023347 PMID:34296265 PMID:34303826 PMID:34489640 PMID:34712575 PMID:35038048 PMID:35086560 PMID:35614200 PMID:35861376 PMID:35892469 PMID:35982159 PMID:36007526 PMID:36325261 PMID:37032242 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
G
Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16757520 PMID:17470133 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26666848 PMID:26981555 PMID:27792009 PMID:28095804 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33673364 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
G
Rbbp8
RB binding protein 8, endonuclease
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
G
Riok3
RIO kinase 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,327,776...3,353,350
Ensembl chr18:3,327,776...3,353,343
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Rmc1
regulator of MON1-CCZ1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,359,848...3,379,764
Ensembl chr18:3,359,832...3,380,795
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 PMID:27338287 PMID:28492532 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Snrpd1
small nuclear ribonucleoprotein D1 polypeptide
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Syndig1l
synapse differentiation inducing 1-like
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
NCBI chr 6:104,318,096...104,344,989
Ensembl chr 6:104,323,424...104,344,891
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Tmem241
transmembrane protein 241
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chr18:3,168,072...3,318,340
Ensembl chr18:3,168,067...3,318,293
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Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25558065 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:25741868
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16167124 PMID:16199547 PMID:16757520 PMID:17470133 PMID:17576681 PMID:18081003 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24082139 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26206375 PMID:26338816 PMID:26666848 PMID:26981555 PMID:27271431 PMID:27792009 PMID:28095804 PMID:28105569 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33673364 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type D
ClinVar OMIM
PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 PMID:16126423 PMID:16778374 PMID:20301473 PMID:20718790 PMID:25741868 PMID:26666848 PMID:26984608 PMID:28222799 PMID:28492532 More...
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral
ClinVar
PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 PMID:15241805 PMID:15877209 PMID:17011332 PMID:17360762 PMID:23412609 PMID:23420949 PMID:23430949 PMID:25741868 PMID:26981555 PMID:28492532 PMID:28703315 More...
NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
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Anxa7
annexin A7
ISO
protein:decreased expression:lymph node
RGD
PMID:17708571
RGD:2292654
NCBI chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:22693999 PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bcl10
BCL10, immune signaling adaptor
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3287162 PMID:26239085
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl6
BCL6, transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25543051
NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
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Bhmt
betaine-homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:17603483 PMID:18186519 PMID:18794803 PMID:19010912 PMID:19206169 PMID:19238210 PMID:19537845 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21483012 PMID:22310681 PMID:22649091 PMID:22773810 PMID:23352452 PMID:23833300 PMID:24033266 PMID:24303953 PMID:24446311 PMID:24920063 PMID:25157968 PMID:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29595366 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cbs
cystathionine beta synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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Ccnd1
cyclin D1
susceptibility
ISO
DNA:snp:exon:c.870G>A (human)
RGD
PMID:25169547
RGD:11353786
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:19636010
RGD:11522746
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:19633198
RGD:151665149
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26506619
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:11486401 PMID:11732872
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11911406
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:polymorphism:exon:49G>A(human)
RGD
PMID:15114591
RGD:11352244
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ephx1
epoxide hydrolase 1
ISO
DNA:polymorphism CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11406608 PMID:11406608
RGD:1601063
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:23023262 PMID:24563539 PMID:26619011
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fcgr2a
Fc gamma receptor 2A
disease_progression
ISO
RGD
PMID:25850245
RGD:11040778
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:25016003
RGD:11352765
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum:
RGD
PMID:29940770
RGD:14985218
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Kmt2a
lysine methyltransferase 2A
ISO
RGD
PMID:8361504
RGD:1625285
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Lrrc41
leucine rich repeat containing 41
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
NCBI chr 5:129,554,547...129,575,450
Ensembl chr 5:129,554,547...129,575,449
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Malt1
MALT1 paracaspase
ISO
RGD
PMID:12560219
RGD:1599912
NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:23444215 PMID:25157968 PMID:26619011
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488658
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:15159311
RGD:11531140
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Mtss1
MTSS I-BAR domain containing 1
ISS
OMIM:605027
MouseDO
NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:25157968 PMID:26619011
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:12139735
RGD:11553822
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Lymphoma, Non-Hodgkin, Familial | ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1156555 PMID:10583959 PMID:14757862 PMID:16860143 PMID:17873118 PMID:21674762 PMID:22437823 PMID:23255033 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25741868 PMID:28492532 PMID:31395954 More...
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Rad54b
RAD54 homolog B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Non-Hodgkin lymphoma
OMIM CTD ClinVar
PMID:10362364 PMID:28492532
NCBI chr 5:25,032,112...25,104,630
Ensembl chr 5:25,032,066...25,104,616
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Rad54l
RAD54 like
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Non-Hodgkin lymphoma
OMIM CTD ClinVar
PMID:10362365
NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:26619011
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22096508
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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S1pr2
sphingosine-1-phosphate receptor 2
ISS
OMIM:605027
MouseDO
NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
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Shmt1
serine hydroxymethyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chr15:21,734,119...21,804,049
Ensembl chr15:21,734,151...21,806,801
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:2654466 PMID:7718482 PMID:7761089 PMID:8023157 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8633021 PMID:8718514 PMID:8829627 PMID:10629033 PMID:10864200 PMID:10922393 PMID:11370630 PMID:11429705 PMID:11782540 PMID:11896595 PMID:11920959 PMID:12826609 PMID:12909720 PMID:12917626 PMID:15037740 PMID:15850016 PMID:15958617 PMID:15982667 PMID:16007150 PMID:16206219 PMID:16312222 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17606709 PMID:17724467 PMID:18453682 PMID:18555592 PMID:19012332 PMID:19171880 PMID:19468865 PMID:19556618 PMID:19913028 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20586629 PMID:20972454 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21674059 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22887876 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23259501 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26230955 PMID:26467025 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26787237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27077130 PMID:27189670 PMID:27276561 PMID:27463065 PMID:27616075 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28279309 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28802053 PMID:28975465 PMID:29058119 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29581140 PMID:29955864 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30675318 PMID:30709381 PMID:30730202 PMID:30816478 PMID:31775759 PMID:32000721 PMID:32191290 PMID:32318955 PMID:32475984 PMID:32817165 PMID:33087929 PMID:33407742 PMID:36219266 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16365025
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Prf1
perforin 1
ISO
DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553
RGD
PMID:11179007
RGD:1599929
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Rab27a
RAB27A, member RAS oncogene family
ISO
Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P)
RGD
PMID:12531900
RGD:1601587
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Noonan-like syndrome
ClinVar
PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 PMID:28492532 PMID:29296819 More...
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cdc42
cell division cycle 42
ISO
ClinVar Annotator: match by term: Noonan-like syndrome
ClinVar
PMID:25741868 PMID:29394990
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
DNA:missense mutations:cds:p.D106A, p.F285L (human)
RGD
PMID:15996221
RGD:11064737
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS
ClinVar
PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 PMID:14551916 PMID:16199547 PMID:16267129 PMID:17143282 PMID:17143285 PMID:17576681 PMID:17586837 PMID:18456719 PMID:18651097 PMID:18772396 PMID:18854871 PMID:18925667 PMID:18972187 PMID:19020799 PMID:19077116 PMID:19352411 PMID:19953625 PMID:20133692 PMID:20186801 PMID:20305546 PMID:20493809 PMID:20607846 PMID:20673819 PMID:20683980 PMID:20981092 PMID:21041952 PMID:21340158 PMID:21387466 PMID:21744363 PMID:21779504 PMID:21784453 PMID:22190897 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:22589294 PMID:23487764 PMID:23673306 PMID:23756559 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24124081 PMID:24451042 PMID:24458522 PMID:24522193 PMID:24803665 PMID:24896146 PMID:25073238 PMID:25712082 PMID:25741868 PMID:25802880 PMID:25862627 PMID:25864170 PMID:26280111 PMID:26297936 PMID:26467025 PMID:26580448 PMID:26607044 PMID:26918529 PMID:27153395 PMID:27304678 PMID:27418595 PMID:27763634 PMID:28074886 PMID:28378436 PMID:28492532 PMID:28870985 PMID:28884940 PMID:28957739 PMID:28991257 PMID:29074966 PMID:29402968 PMID:29493581 PMID:29625050 PMID:29641532 PMID:29696744 PMID:29752777 PMID:29868112 PMID:29907801 PMID:29970176 PMID:30039904 PMID:30050098 PMID:30325180 PMID:30417923 PMID:30541462 PMID:30712878 PMID:30784236 PMID:30838730 PMID:31219622 PMID:31292302 PMID:31368652 PMID:31560489 PMID:31573083 PMID:32059087 PMID:32333414 PMID:33042901 PMID:33128510 PMID:33771761 PMID:33848766 PMID:34008892 PMID:34136918 PMID:34163525 PMID:34411415 PMID:36110220 PMID:36413997 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ISO
ClinVar Annotator: match by term: Noonan-like disorder
ClinVar
PMID:25741868 PMID:31024343
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair | ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair
ClinVar
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22670144 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25137548 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28492532 PMID:29907801 PMID:30348783 PMID:34008892 More...
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME DNA:missense mutations:cds:multiple (human) Noonan syndrome-like disorder with loose anagen hair 1; DNA:mutation:cds:c.4A>G (p.S2G)(human)
OMIM ClinVar RGD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22670144 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25137548 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26467025 PMID:26519477 PMID:27466182 PMID:28074886 PMID:28301460 PMID:28492532 PMID:29907801 PMID:30348783 PMID:33673806 PMID:34008892 PMID:35348676 PMID:23918763 PMID:20882035 More...
RGD:155804265 , RGD:11071098 , RGD:11071178
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Ppp1cb
protein phosphatase 1 catalytic subunit beta
ISO
ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 PMID:28211982 PMID:28492532 PMID:30236064 PMID:30348783 PMID:31474318 PMID:33333793 PMID:33491856 More...
NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20595524 PMID:20619386 PMID:20694012 PMID:20951944 PMID:20955399 PMID:21828135 PMID:21901340 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24458550 PMID:24463883 PMID:24493670 PMID:24728327 PMID:24803665 PMID:24896146 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25731833 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26580448 PMID:26676746 PMID:27069254 PMID:27609087 PMID:27784745 PMID:28343148 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29177441 PMID:29296819 PMID:31101757 PMID:31333075 PMID:31568572 PMID:31664448 PMID:31970404 PMID:32533790 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33550024 PMID:33627783 More...
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
ClinVar
PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 PMID:15389709 PMID:15520399 PMID:16053901 PMID:16358218 PMID:16377799 PMID:16638574 PMID:16679933 PMID:17020470 PMID:18372317 PMID:18849586 PMID:19725129 PMID:19768645 PMID:20301557 PMID:20308328 PMID:21339643 PMID:21747628 PMID:22681964 PMID:22822385 PMID:23673659 PMID:24033266 PMID:24401936 PMID:24775816 PMID:24820750 PMID:24935154 PMID:25731833 PMID:25741868 PMID:25917897 PMID:26337637 PMID:26467025 PMID:26918529 PMID:28483241 PMID:28492532 PMID:29276006 PMID:30311386 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:19168746
RGD:8662882
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:11884755
RGD:7794682
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Il13
interleukin 13
severity
ISO
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103;
RGD
PMID:22117902
RGD:8547660
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Ha
RT1 class II, locus Ha
ISO
RGD
PMID:8854084
RGD:6480649
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18292527
RGD:4892087
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd28
Cd28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
RGD
PMID:17325942
RGD:5147631
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Creld1
cysteine-rich with EGF-like domains 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome
CTD ClinVar
PMID:12632326 PMID:24697899 PMID:28492532
NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Cd1d1
CD1d1 molecule
ISO
RGD
PMID:27069116
RGD:11534789
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28659334
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Rc3h1
ring finger and CCCH-type domains 1
ISS
MouseDO
NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bcl2l1
Bcl2-like 1
severity
ISO
RGD
PMID:15725478
RGD:11353872
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31394527 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
G
Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 More...
NCBI chr 4:178,185,418...178,218,484
G
Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 More...
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31394527 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8816796 PMID:9020384 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:20404277
RGD:11039454
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Bcl2
BCL2, apoptosis regulator
susceptibility
ISO
human gene in a mouse model
RGD
PMID:14695177
RGD:11526108
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
RGD
PMID:11113205
RGD:11251742
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Il10
interleukin 10
ISO
RGD
PMID:26140236
RGD:11049175
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:2022919
RGD:10449448
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
G
Ccl20
C-C motif chemokine ligand 20
disease_progression
ISO
mRNA, protein:increased expression:skin, serum
RGD
PMID:22048239
RGD:7483601
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccl26
C-C motif chemokine ligand 26
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:20505746
RGD:11087556
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
G
Ccr6
C-C motif chemokine receptor 6
ISO
mRNA, protein:increased expression:skin
RGD
PMID:22048239
RGD:7483601
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:26258847
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletion (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26192916 PMID:20118908
RGD:8552306
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion (human)
RGD
PMID:20118908
RGD:8552306
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Il18
interleukin 18
ISO
protein:increased expression:plasma
RGD
PMID:16428475
RGD:8655925
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il4
interleukin 4
ISO
mRNA:increased expression:skin
RGD
PMID:7963654
RGD:7829823
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
G
Mir22
microRNA 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26244872
NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
G
Nfkb2
nuclear factor kappa B subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
G
Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
G
Prkcq
protein kinase C, theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
G
Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
G
Abtb1
ankyrin repeat and BTB domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
G
Acad11
acyl-CoA dehydrogenase family, member 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
G
Acad9
acyl-CoA dehydrogenase family, member 9
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
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Ackr4
atypical chemokine receptor 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
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Acp3
acid phosphatase 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Aldh1l1
aldehyde dehydrogenase 1 family, member L1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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Amotl2
angiomotin like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,303,368...103,319,161
Ensembl chr 8:103,302,992...103,318,910
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Anapc13
anaphase promoting complex subunit 13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,205,520...103,213,936
Ensembl chr 8:103,205,520...103,213,936
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Aste1
asteroid homolog 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
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Atp2c1
ATPase secretory pathway Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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Bfsp2
beaded filament structural protein 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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C4h3orf22
similar to human chromosome 3 open reading frame 22
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdv3
carnitine deficiency-associated gene expressed in ventricle 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
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Cep63
centrosomal protein 63
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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Cfap100
cilia and flagella associated protein 100
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
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Cfap92
cilia and flagella associated protein 92
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
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Chchd6
coiled-coil-helix-coiled-coil-helix domain containing 6
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
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Chst13
carbohydrate sulfotransferase 13
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,824,022...122,837,940
Ensembl chr 4:122,824,022...122,838,019
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Cnbp
CCHC-type zinc finger, nucleic acid binding protein
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
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Col6a5
collagen type VI alpha 5 chain
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
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Col6a6
collagen type VI alpha 6 chain
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
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Copg1
COPI coat complex subunit gamma 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
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Cpne4
copine 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
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Csta
cystatin A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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Dnajb8
DnaJ heat shock protein family (Hsp40) member B8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:29146883 PMID:29724903 PMID:31710708 More...
NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
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Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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Eefsec
eukaryotic elongation factor, selenocysteine-tRNA-specific
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
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Efcab12
EF-hand calcium binding domain 12
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
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Efcc1
EF-hand and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
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Ephb1
Eph receptor B1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839
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Fam162a
family with sequence similarity 162, member A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
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Fbxo40
F-box protein 40
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697
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Fstl1
follistatin-like 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
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Gata2
GATA binding protein 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar OMIM
PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18250304 PMID:19449416 PMID:20040766 PMID:20803646 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21816832 PMID:21892158 PMID:21892162 PMID:21956389 PMID:22147895 PMID:22271902 PMID:22430350 PMID:22533337 PMID:22649106 PMID:22996659 PMID:23223431 PMID:23365458 PMID:23443460 PMID:23502222 PMID:23560626 PMID:23563236 PMID:23728141 PMID:24033149 PMID:24033266 PMID:24077845 PMID:24167460 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24359037 PMID:24514424 PMID:24578498 PMID:24728327 PMID:24754962 PMID:24782121 PMID:25239263 PMID:25241285 PMID:25326637 PMID:25359990 PMID:25619630 PMID:25624456 PMID:25676417 PMID:25741868 PMID:25879889 PMID:25955867 PMID:26022708 PMID:26214525 PMID:26264606 PMID:26445707 PMID:26492932 PMID:26660446 PMID:26702063 PMID:26710799 PMID:26716079 PMID:26748574 PMID:26767875 PMID:26812071 PMID:27013649 PMID:27069254 PMID:27232273 PMID:27266944 PMID:27276561 PMID:27288520 PMID:27375010 PMID:27389056 PMID:27416790 PMID:27418648 PMID:27577878 PMID:27680514 PMID:27799394 PMID:27876779 PMID:27894982 PMID:27924436 PMID:28066994 PMID:28104920 PMID:28126493 PMID:28209719 PMID:28234738 PMID:28259234 PMID:28271814 PMID:28373026 PMID:28440875 PMID:28485484 PMID:28492532 PMID:28602958 PMID:28642594 PMID:28654364 PMID:28747912 PMID:28825694 PMID:28873162 PMID:28947108 PMID:29146883 PMID:29146900 PMID:29156497 PMID:29178327 PMID:29189513 PMID:29230432 PMID:29279357 PMID:29365323 PMID:29588856 PMID:29680795 PMID:29724903 PMID:29797310 PMID:29882021 PMID:29906362 PMID:29947977 PMID:30030275 PMID:30101490 PMID:30190467 PMID:30280306 PMID:30564229 PMID:30578959 PMID:30620726 PMID:30697248 PMID:30802360 PMID:30894283 PMID:31035956 PMID:31106410 PMID:31203817 PMID:31245276 PMID:31256854 PMID:31309983 PMID:31340620 PMID:31350183 PMID:31710708 PMID:31732620 PMID:31753093 PMID:31785092 PMID:31958074 PMID:32088370 PMID:32098966 PMID:32135276 PMID:32488879 PMID:32497548 PMID:32555368 PMID:32682923 PMID:32865708 PMID:32888943 PMID:32914014 PMID:33363905 PMID:33370941 PMID:33417088 PMID:33510405 PMID:33560389 PMID:33684095 PMID:33715335 PMID:33759087 PMID:33957466 PMID:34051752 PMID:34387894 PMID:34469508 PMID:34529785 PMID:34619682 PMID:34670919 PMID:34893945 PMID:35181392 PMID:35753512 More...
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Golgb1
golgin B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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Gp9
glycoprotein IX (platelet)
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
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Gtf2e1
general transcription factor IIE subunit 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
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H1f10
H1.10 linker histone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448
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H1f8
H1.8 linker histone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
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Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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Hcls1
hematopoietic cell specific Lyn substrate 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
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Heg1
heart development protein with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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Hgd
homogentisate 1, 2-dioxygenase
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
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Hmces
5-hydroxymethylcytosine binding, ES cell specific
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
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Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
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Ift122
intraflagellar transport 122
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Il20rb
interleukin 20 receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:100,979,085...101,010,829
Ensembl chr 8:100,980,383...101,009,942
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Ildr1
immunoglobulin-like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Isy1
ISY1 splicing factor homolog
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
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Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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Kalrn
kalirin, RhoGEF kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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Kbtbd12
kelch repeat and BTB domain containing 12
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
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Klf15
KLF transcription factor 15
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
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Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
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Ky
kyphoscoliosis peptidase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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Mbd4
methyl-CpG binding domain 4 DNA glycosylase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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Mcm2
minichromosome maintenance complex component 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
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Mgll
monoglyceride lipase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
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Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
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Mrpl3
mitochondrial ribosomal protein L3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
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Msl2
MSL complex subunit 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,676,605...101,702,818
Ensembl chr 8:101,676,765...101,763,833
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Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nck1
NCK adaptor protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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Ndufb4
NADH:ubiquinone oxidoreductase subunit B4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,063,723...63,070,426
Ensembl chr11:63,063,795...63,070,425
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Nek11
NIMA-related kinase 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nudt16
nudix hydrolase 16
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
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Osbpl11
oxysterol binding protein-like 11
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
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Parp14
poly (ADP-ribose) polymerase family, member 14
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
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Parp9
poly (ADP-ribose) polymerase family, member 9
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
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Pccb
propionyl-CoA carboxylase subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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Pdia5
protein disulfide isomerase family A, member 5
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
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Pik3r4
phosphoinositide-3-kinase, regulatory subunit 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
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Plxna1
plexin A1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
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Plxnd1
plexin D1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Podxl2
podocalyxin-like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
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Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
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Ppp2r3a
protein phosphatase 2, regulatory subunit B'', alpha
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502
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Rab43
RAB43, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174
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Rab6b
RAB6B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,695,328...103,764,023
Ensembl chr 8:103,695,631...103,805,732
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Rab7a
RAB7A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
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Rabl3
RAB, member of RAS oncogene family-like 3
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
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Rho
rhodopsin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
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Rpn1
ribophorin I
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
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Ruvbl1
RuvB-like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
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Ryk
receptor-like tyrosine kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
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Slc12a8
solute carrier family 12, member 8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
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Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
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Slc35g2
solute carrier family 35, member G2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,085,579...101,113,339
Ensembl chr 8:101,085,545...101,113,349
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Slc41a3
solute carrier family 41, member 3
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
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Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
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Slco2a1
solute carrier organic anion transporter family, member 2a1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546
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Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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Srprb
SRP receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,768,685...103,782,632
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Stag1
STAG1 cohesin complex component
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
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Stxbp5l
syntaxin binding protein 5L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
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Tf
transferrin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tmcc1
transmembrane and coiled-coil domain family 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
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Tmem108
transmembrane protein 108
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
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Topbp1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
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Tpra1
transmembrane protein adipocyte associated 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
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Trh
thyrotropin releasing hormone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Txnrd3
thioredoxin reductase 3
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
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Uba5
ubiquitin-like modifier activating enzyme 5
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Uroc1
urocanate hydratase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
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Zfp148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Zxdc
ZXD family zinc finger C
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
severity
ISO
RGD
PMID:9036208
RGD:5128833
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Ada
adenosine deaminase
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10410539
RGD:5128856
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Bdnf
brain-derived neurotrophic factor
ISO
RGD
PMID:16315781
RGD:4891110
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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C3
complement C3
ISO
protein:altered expression:lung
RGD
PMID:18069416
RGD:5129502
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD
PMID:10384061
RGD:4891436
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr5
C-C motif chemokine receptor 5
disease_progression
ISO
protein:altered expression:lung, lymphocyte, macrophage (human) DNA:polymorphisms:5' utr:multiple (human)
RGD
PMID:11790661 PMID:19679608
RGD:4892099 , RGD:4892066
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Ccr7
C-C motif chemokine receptor 7
ISO
mRNA:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations:whole blood :
RGD
PMID:20722470
RGD:4139905
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:15763444
RGD:4892634
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crp
C-reactive protein
severity
ISO
RGD
PMID:21086905
RGD:5131289
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:17550373 PMID:9834133
RGD:5135438 , RGD:5135492
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:serum
RGD
PMID:17550373
RGD:5135438
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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Cxcl6
C-X-C motif chemokine ligand 6
disease_progression
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:17052298
RGD:5135244
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum, respiratory system fluid/secretion
RGD
PMID:17550373
RGD:5135438
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, T cell
RGD
PMID:9834133
RGD:5135492
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cyba
cytochrome b-245 alpha chain
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Defb1
defensin beta 1
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Defb4
defensin beta 4
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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Defb5
defensin beta 5
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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Egr1
early growth response 1
ISO
protein:increased expression:lung (human)
RGD
PMID:16933469
RGD:5131899
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Hmox1
heme oxygenase 1
ISO
protein:increased activity:sputum
RGD
PMID:19453654
RGD:4145349
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Il18
interleukin 18
ISO
protein:increased expression:serum protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:11174201 PMID:16734560
RGD:4889863 , RGD:4889823
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18r1
interleukin 18 receptor 1
severity
ISO
RGD
PMID:14641797
RGD:5024944
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:8239179
RGD:4143198
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:15713215
RGD:4143248
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:14665489
RGD:5131177
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Ngf
nerve growth factor
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 , RGD:5144061
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Nod2
nucleotide-binding oligomerization domain containing 2
disease_progression
ISO
DNA:polymorphism:exon:2104C>T (human)
RGD
PMID:19679608
RGD:4892066
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
protein:increased expression:lung
RGD
PMID:2255800
RGD:4892566
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Ntf3
neurotrophin 3
disease_progression
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 , RGD:5144061
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression: :
RGD
PMID:16315781
RGD:4891110
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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RT1-Db1
RT1 class II, locus Db1
severity susceptibility
ISO
DNA:polymorphism:cds:DRB1*03 (human) DNA:polymorphism:cds:DRB1*15 (human)
RGD
PMID:15881283
RGD:40818305
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:10543276
RGD:4143437
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Tgfb1
transforming growth factor, beta 1
severity
ISO
DNA:polymorphisms: :-509C>T (human)
RGD
PMID:17785866
RGD:4145294
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO
mRNA:decreased expression:alveolar macrophage
RGD
PMID:20813038 PMID:23668840
RGD:4145301 , RGD:8553184
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tnc
tenascin C
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9780295
RGD:4889595
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism:promoter
RGD
PMID:20070603 PMID:15653992
RGD:4143236 , RGD:4143466
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (human)
RGD
PMID:21508170
RGD:5131275
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:20442436
RGD:5685623
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Pyogenic granuloma
ClinVar
PMID:25741868
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:blood vessel
RGD
PMID:18700251
RGD:8694308
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia
ClinVar
PMID:25741868
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1
OMIM ClinVar
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34212438 More...
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Nek8
NIMA-related kinase 8
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2
OMIM ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 PMID:26862157 PMID:26967905 PMID:28492532 More...
NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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Ccl1
C-C motif chemokine ligand 1
ISO
associated with Schistosomiasis mansoni
RGD
PMID:12600821
RGD:4145441
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl11
C-C motif chemokine ligand 11
ISO IEP
mRNA:increased expression:lung
RGD
PMID:12600821 PMID:15181185
RGD:4145441 , RGD:4145477
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl17
C-C motif chemokine ligand 17
ISO
RGD
PMID:15466387
RGD:4145515
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO IDA
associated with Schistosomiasis mansoni
RGD
PMID:12600821 PMID:9042155
RGD:4145441 , RGD:8549740
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl22
C-C motif chemokine ligand 22
ISO
associated with Mycobacterium Infections associated with Schistosomiasis mansoni
RGD
PMID:12600821 PMID:15466387
RGD:4145441 , RGD:4145515
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:21273392
RGD:5683877
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21273392
RGD:5683877
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21273392
RGD:5683877
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Il13
interleukin 13
treatment
ISO
RGD
PMID:10857756
RGD:8549624
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tlr3
toll-like receptor 3
ISO
RGD
PMID:19009529
RGD:5129133
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr9
toll-like receptor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19797157 PMID:17853411
RGD:5130186
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Arl2bp
ADP-ribosylation factor like GTPase 2 binding protein
ISO ISS
ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus OMIM:615434
OMIM ClinVar MouseDO
PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 PMID:28041643 PMID:28492532 PMID:30210231 PMID:32581362 PMID:34906502 More...
NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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Acvr2b
activin A receptor type 2B
ISS
OMIM:208530
MouseDO
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Right atrial isomerism
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 PMID:34486251 More...
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Cfc1
cripto, FRL-1, cryptic family 1
ISS
OMIM:208530
MouseDO
NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Right atrial isomerism
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 PMID:34486251 More...
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Upf1
UPF1, RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: Right atrial isomerism
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28668836
RGD:24922215
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:25885343
RGD:25330345
NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Ace
angiotensin I converting enzyme
severity disease_progression
ISO
DNA:SNP:enhancer: DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr: DNA:insertion/deletion:intron 16: protein:increased activity:serum (human)
GAD RGD
PMID:15118671 PMID:29229112 PMID:11168787 PMID:18496980 PMID:183595 PMID:6287584 More...
RGD:1331525 , RGD:40400908 , RGD:40400746 , RGD:40400722 , RGD:40400721 , RGD:11039025
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agtr1a
angiotensin II receptor, type 1a
no_association
ISO
DNA:polymorphism: :1166A>C (human)
RGD
PMID:21319597 PMID:20560294
RGD:5129164 , RGD:5129165
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Anxa11
annexin A11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19165924
NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797
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Btnl2
butyrophilin-like 2
susceptibility
ISO
ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2 CTD Direct Evidence: marker/mechanism DNA:SNP: :rs2076530(human)
ClinVar CTD OMIM RGD
PMID:15735647 PMID:22991420
RGD:7365045
NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
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Ccl17
C-C motif chemokine ligand 17
ISO
protein:increased expression:serum
RGD
PMID:17949965
RGD:4145494
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:18513341
RGD:4144898
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human)
RGD
PMID:18311470
RGD:4892086
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd14
CD14 molecule
susceptibility
ISO
DNA:polymorphism:promoter:c. -159C>T (human)|protein:increased expression:serum
RGD
PMID:20430603 PMID:20430603
RGD:4144780 , RGD:4144780
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
mRNA:increased expression:skin:
RGD
PMID:12885947
RGD:8662819
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cfh
complement factor H
susceptibility
ISO
DNA:SNP:cds:p.Y402H(human)
RGD
PMID:23497844
RGD:7365014
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cma1
chymase 1
ISO
DNA:snp:5' utr:g.-526C>T (human)
RGD
PMID:16446531
RGD:5128561
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:polymorphism:exon (human)
RGD
PMID:14620161
RGD:4891520
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Hp
haptoglobin
ISO
RGD
PMID:17446058
RGD:5147442
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il18
interleukin 18
disease_progression
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16100009 PMID:17015003
RGD:4889815
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human)
RGD
PMID:21846945
RGD:8549545
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Prdx5
peroxiredoxin 5
ISO
protein:increased expression:alveolus of lung (human)
RGD
PMID:22837380
RGD:41404683
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
DNA:SNP: :8473 T > C (human) protein:decreased expression:lung:
RGD
PMID:19042116 PMID:14511257
RGD:5135505 , RGD:5135507
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human)
RGD
PMID:9659531
RGD:36174017
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13
RT1 class I, locus CE13
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human)
RGD
PMID:23808178
RGD:7364872
NCBI chr20:3,314,830...3,318,106
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: : HLA-DRB1*08:03(human) CTD Direct Evidence: marker/mechanism DNA:polymorphism: :multiple alleles
OMIM CTD RGD
PMID:14508706 PMID:22991420 PMID:14508706
RGD:7365045 , RGD:7365081
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8909942 PMID:14508706 PMID:17956852
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Sftpd
surfactant protein D
ISO
associated with Uveitis;protein:increased expression:serum
RGD
PMID:20151281
RGD:4143491
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:repeat, SNP:promoter, intron (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:22160516
RGD:5684925
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785866
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:1831824
RGD:7794711
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16096327 PMID:16096327
RGD:11522758
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis
CTD OMIM ClinVar
PMID:8488843 PMID:9279208 PMID:9360638 PMID:11095479 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Sezary syndrome
ClinVar
PMID:9989495
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brd9
bromodomain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016
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Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chd3
chromodomain helicase DNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Il2rg
interleukin 2 receptor subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16403914
RGD:8661723
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
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Slc29a3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20140240
NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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Acvr2b
activin A receptor type 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9916847
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Anks6
ankyrin repeat and sterile alpha motif domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23793029
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Celsr1
cadherin, EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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Cfap300
cilia and flagella associated protein 300
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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Cfap46
cilia and flagella associated protein 46
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
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Cfap52
cilia and flagella associated protein 52
ISO
ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis
ClinVar
PMID:16199547 PMID:25469542 PMID:25741868 PMID:28492532 PMID:33139725
NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934
G
Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
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Dand5
DAN domain BMP antagonist family member 5
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:25741868
NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 PMID:25741868 PMID:27884173 PMID:28492532 More...
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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Dnah5
dynein, axonemal, heavy chain 5
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 PMID:26228299 PMID:28492532 PMID:30290127 More...
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Dnah6
dynein, axonemal, heavy chain 6
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Nme7
NME/NM23 family member 7
susceptibility
ISO
RGD
PMID:20080492
RGD:155630601
NCBI chr13:76,657,303...76,786,768
Ensembl chr13:76,657,367...76,786,765
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Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Situs inversus
ClinVar
PMID:19064609 PMID:19553149 PMID:25741868
NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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Nphp3
nephrocystin 3
ISO
RGD
PMID:18371931
RGD:11352488
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Odad4
outer dynein arm docking complex subunit 4
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
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Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
susceptibility
ISO
ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus
ClinVar RGD
PMID:20080492 PMID:25741868 PMID:27272319 PMID:27616478 PMID:30664273 PMID:32111882 PMID:33655537 PMID:20080492 More...
RGD:155630601
NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
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Zic3
Zic family member 3
ISO
X-linked visceral heterotaxy, OMIM:306955
RGD
PMID:9354794
RGD:1599909
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Ramp2
receptor activity modifying protein 2
ameliorates
ISO
RGD
PMID:31754214
RGD:152985691
NCBI chr10:86,187,366...86,190,692
Ensembl chr10:86,188,812...86,231,829
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20961953
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20961953
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Tlx1
T-cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7908720
NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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Cd79b
CD79b molecule
ISO
protein:decreased expression:blood, B cell (human)
RGD
PMID:10329919
RGD:11531139
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26558449
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Havcr2
hepatitis A virus cellular receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD ClinVar OMIM
PMID:25741868 PMID:30374066 PMID:30429576 PMID:30792187
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20019844
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Akr1c3
aldo-keto reductase family 1, member C3
treatment
ISO
RGD
PMID:26116659
RGD:11541128
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Bax
BCL2 associated X, apoptosis regulator
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9531611
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9989495
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Card11
caspase recruitment domain family, member 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25384343
RGD:11100039
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Ccnd3
cyclin D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletion, missense, nonsense mutations:cds:
RGD
PMID:16407836 PMID:8637233 PMID:19759355 PMID:17507663 PMID:23178376
RGD:11251741 , RGD:11251776 , RGD:11251774 , RGD:11251765 , RGD:11251744
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
disease_progression
ISO
RGD
PMID:17507663 PMID:16407836
RGD:11251765 , RGD:11251741
G
Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
disease_progression
ISO
RGD
PMID:19759355 PMID:16407836
RGD:11251774 , RGD:11251741
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Cnot3
CCR4-NOT transcription complex, subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167
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Csf3r
colony stimulating factor 3 receptor
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31697825 More...
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:26931577
RGD:11352292
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dnmt3a
DNA methyltransferase 3 alpha
disease_progression susceptibility
ISO
DNA:mutations: : ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human)
ClinVar RGD
PMID:23341344 PMID:26072070
RGD:9589073 , RGD:11041131
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:22431509
RGD:10755340
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Hmga1
high mobility group AT-hook 1
ISS
MouseDO
NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892159
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Jak1
Janus kinase 1
ISO
DNA:missense mutation: :c.1972G>T (p.V658F) (human)
RGD
PMID:18559588
RGD:18936996
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Jak3
Janus kinase 3
ISO
RGD
PMID:25193870
RGD:11531122
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kras
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:23673656
RGD:11060136
NCBI chr 4:178,185,418...178,218,484
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Lmo1
LIM domain only 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:3259177 PMID:19246562
NCBI chr 1:163,132,338...163,168,521
Ensembl chr 1:163,132,339...163,168,522
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Lmo2
LIM domain only 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:19246562 PMID:24394663
NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
OMIM
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17435759 PMID:28671688
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nbn
nibrin
ISS
MouseDO
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:19246562 PMID:19318552 PMID:21498710 PMID:24394663 PMID:25585350 PMID:28671688 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nup98
nucleoporin 98 and 96 precursor
ISO
DNA:translocation:cds: (human)
RGD
PMID:10477737
RGD:9693698
NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Pdgfra
platelet derived growth factor receptor alpha
ISO
RGD
PMID:24486648
RGD:11075087
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Phf6
PHD finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20228800
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:11992261 PMID:12161469 PMID:15240615 PMID:16358218 PMID:17020470 PMID:17339163 PMID:18470943 PMID:18678287 PMID:19020799 PMID:21106241 PMID:21784453 PMID:21901340 PMID:22681964 PMID:23321623 PMID:24183200 PMID:25741868 PMID:27030275 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn2
protein tyrosine phosphatase, non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20473312
NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
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Rpl10
ribosomal protein L10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Rpl11
ribosomal protein L11
ISO
DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human)
RGD
PMID:23377281
RGD:11535972
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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Rpl5
ribosomal protein L5
ISO
DNA:snps, insertion, deletion:cds:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23263491 PMID:23263491
RGD:11535135
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Runx1
RUNX family transcription factor 1
disease_progression
ISO
RGD
PMID:16051740 PMID:21828118
RGD:11251682 , RGD:11251708
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Spi1
Spi-1 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671687
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
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Tcl1a
Tcl1 family Akt coactivator A
ISO
mRNA:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:10077617
RGD:1599360
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tlx1
T-cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Zfp36l2
zinc finger protein 36, C3H type-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chr 6:10,490,032...10,494,073
Ensembl chr 6:10,490,032...10,494,064
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Cntn2
contactin 2
ISS
MouseDO
NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
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Zeb2
zinc finger E-box binding homeobox 2
ISS
MouseDO
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tcl1a
Tcl1 family Akt coactivator A
ISO
OMIM
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Aicda
activation-induced cytidine deaminase
ISO
RGD
PMID:20357822
RGD:11039456
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25658812
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Asxl3
ASXL transcriptional regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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Bcl6
BCL6, transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15375218
NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389
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Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:20369488 PMID:16462758
RGD:8547768 , RGD:8662844
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Egr1
early growth response 1
ISO
RGD
PMID:17420284
RGD:5131859
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:19506298
RGD:11352666
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Ier3
immediate early response 3
ISO
human gene in a mouse model
RGD
PMID:14534530
RGD:1331843
NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583
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Il13
interleukin 13
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra2
interleukin 13 receptor subunit alpha 2
treatment
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr15:31,671,337...31,688,833
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Jak3
Janus kinase 3
treatment
ISO
RGD
PMID:24153015
RGD:11531129
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kdm1a
lysine demethylase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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Kdm2b
lysine demethylase 2B
IAGP
DNA:insertions:promoter:multiple (rat)
RGD
PMID:18250326
RGD:9588252
NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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Kdm4c
lysine demethylase 4C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255338
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24584070
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Runx1
RUNX family transcription factor 1
disease_progression
ISO
RGD
PMID:12499254
RGD:11251707
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chr15:21,734,119...21,804,049
Ensembl chr15:21,734,151...21,806,801
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26192917 PMID:29438700 PMID:20369488
RGD:8547768
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:23807571 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25614872 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 More...
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: T-cell prolymphocytic leukemia
ClinVar
PMID:6504056 PMID:7792600 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9150358 PMID:9288106 PMID:9443866 PMID:9463314 PMID:9537233 PMID:9892178 PMID:10817650 PMID:11382771 PMID:11805335 PMID:11830610 PMID:12072552 PMID:12195425 PMID:12552559 PMID:12969974 PMID:14562025 PMID:16652348 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:20301790 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21933854 PMID:22529920 PMID:22585167 PMID:22649200 PMID:24088041 PMID:24733792 PMID:25186627 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26556299 PMID:26633545 PMID:26662178 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28492532 PMID:28779002 PMID:28873162 PMID:29719442 PMID:29915382 PMID:30549301 PMID:31447099 PMID:31948886 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32853339 PMID:33436325 PMID:33439686 PMID:33471991 PMID:33509806 PMID:34117267 More...
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Jak3
Janus kinase 3
ISO
DNA:missense mutations:exon:pM511I, p.R657Q (human)
RGD
PMID:24446122
RGD:11531125
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome
ClinVar
PMID:14585638 PMID:15703190 PMID:17273972
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human)
RGD
PMID:28868954
RGD:150524335
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Gtf2i
general transcription factor II I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
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Aqp4
aquaporin 4
ISO
associated with Myasthenia Gravis
RGD
PMID:20728226
RGD:5148025
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Birc2
baculoviral IAP repeat-containing 2
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc5
baculoviral IAP repeat-containing 5
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bsg
basigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)
RGD
PMID:24260492
RGD:9589098
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 PMID:32732226 PMID:34958143 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:7530509 PMID:9438854 PMID:10224103 PMID:10680913 PMID:11276010 PMID:11505412 PMID:12960119 PMID:14977822 PMID:15790786 PMID:16226710 PMID:16731599 PMID:16908931 PMID:17372901 PMID:17699867 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18936790 PMID:18980976 PMID:19461405 PMID:19671763 PMID:19812602 PMID:19861435 PMID:19996579 PMID:20736294 PMID:20970876 PMID:21159146 PMID:21325067 PMID:21642685 PMID:21690468 PMID:21969494 PMID:22261812 PMID:22357254 PMID:23375402 PMID:23598963 PMID:24755198 PMID:25157968 PMID:27771813 PMID:27981619 PMID:28492532 PMID:28710566 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 PMID:32732226 PMID:34958143 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Naip6
NLR family, apoptosis inhibitory protein 6
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
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Pbrm1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Foxn1
forkhead box N1
IMP
RGD
PMID:26931321
RGD:11568681
NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
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Foxn1em1Nips
forkhead box N1; CRISPR/Cas9 system induced mutant 1, National Institute for Physiological Sciences
IMP
RGD
PMID:26931321
RGD:11568681
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Foxn1em2Nips
forkhead box N1; CRISPR/Cas9 system induced mutant 2, National Institute for Physiological Sciences
IMP
RGD
PMID:26931321
RGD:11568681
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Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28736328
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10850423
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Fgfr3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells (human)
RGD
PMID:30061236
RGD:36947883
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:21565911
RGD:5147562
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Aifm3
apoptosis inducing factor, mitochondria associated 3
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
G
Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Chrd
chordin
ISS
OMIM:192430
MouseDO
NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Crkl
CRK like proto-oncogene, adaptor protein
ISS ISO
OMIM:192430 ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
MouseDO ClinVar
PMID:25741868
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
G
Dgcr6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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Ednra
endothelin receptor type A
ISS
OMIM:192430
MouseDO
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Klhl22
kelch-like family member 22
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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LOC120095536
protein FAM246A-like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,150,952...83,151,644
Ensembl chr11:83,150,952...83,151,644
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Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Mapk1
mitogen activated protein kinase 1
ISS
OMIM:192430
MouseDO
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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Mir1306
microRNA 1306
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
G
Mir185
microRNA 185
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
G
Prickle1
prickle planar cell polarity protein 1
ISS
OMIM:192430
MouseDO
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
G
Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,844,309...82,869,251
Ensembl chr11:82,844,309...82,869,466
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Scarf2
scavenger receptor class F, member 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
G
Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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Slc7a4
solute carrier family 7, member 4
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
G
Snora77b
small nucleolar RNA, H/ACA box 77B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
G
Tbx1
T-box transcription factor 1
ISO ISS
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome OMIM:192430
OMIM ClinVar MouseDO RGD
PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:25860641 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 PMID:15190012 More...
RGD:155641243
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
G
Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
G
Trappc10
trafficking protein particle complex subunit 10
ISS
OMIM:192430
MouseDO
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
G
Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:83,086,578...83,087,933
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
G
Wfdc21
WAP four-disulfide core domain 21
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr10:68,627,836...68,633,705
Ensembl chr10:68,627,820...68,633,701
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
G
Zim1
zinc finger, imprinted 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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Acvr2b
activin A receptor type 2B
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 ClinVar Annotator: match by term: Visceral heterotaxy
CTD MouseDO ClinVar
PMID:9916847
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
G
Anks6
ankyrin repeat and sterile alpha motif domain containing 6
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
G
Ap1b1
adaptor related protein complex 1 subunit beta 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
G
Bicc1
BicC family RNA binding protein 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr20:17,449,639...17,686,775
Ensembl chr20:17,449,560...17,686,776
G
C14h2orf74
similar to human chromosome 2 open reading frame 74
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:97,493,579...97,496,697
Ensembl chr14:97,493,658...97,496,679
G
C5h1orf127
similar to human chromosome 1 open reading frame 127
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
G
Cc2d2a
coiled-coil and C2 domain containing 2A
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
G
Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISS ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 ClinVar Annotator: match by term: Situs ambiguus
MouseDO ClinVar
PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Celsr1
cadherin, EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
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Cep290
centrosomal protein 290
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
G
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
G
Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
G
Cfap300
cilia and flagella associated protein 300
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
G
Cfap46
cilia and flagella associated protein 46
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr 1:194,403,212...194,482,790
Ensembl chr 1:194,403,211...194,482,730
G
Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
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Cfc1
cripto, FRL-1, cryptic family 1
ISS ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 DNA:CNVs::2q21.1 (human) DNA:missense mutation:exon:334C>T (p.R112C)(human)
MouseDO RGD
PMID:25423076 PMID:10574770 PMID:11062482
RGD:155226881 , RGD:155226882 , RGD:155226879
NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
G
Cplane2
ciliogenesis and planar polarity effector complex subunit 2
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
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Cripto
cripto, EGF-CFC family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11062482
NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
G
Dand5
DAN domain BMP antagonist family member 5
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:25741868
NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
G
Daw1
dynein assembly factor with WD repeats 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
G
Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 PMID:25741868 PMID:27884173 PMID:28492532 More...
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
G
Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
G
Dnaaf3
dynein, axonemal, assembly factor 3
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
G
Dnah11
dynein, axonemal, heavy chain 11
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
G
Dnah5
dynein, axonemal, heavy chain 5
ISS ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 ClinVar Annotator: match by term: Situs ambiguus
MouseDO ClinVar
PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 PMID:26228299 PMID:28492532 PMID:30290127 More...
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
G
Dnah6
dynein, axonemal, heavy chain 6
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
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Dnai1
dynein, axonemal, intermediate chain 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Drc1
dynein regulatory complex subunit 1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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Foxh1
forkhead box H1
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Ift74
intraflagellar transport 74
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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Megf8
multiple EGF-like-domains 8
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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Mmp21
matrix metallopeptidase 21
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 ClinVar Annotator: match by term: Visceral heterotaxy
CTD MouseDO ClinVar
PMID:24033266 PMID:25741868 PMID:26437028
NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855
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Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:19064609 PMID:25741868 PMID:28492532
NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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Odad2
outer dynein arm docking complex subunit 2
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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Odad4
outer dynein arm docking complex subunit 4
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:33655537
NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
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Psme4
proteasome activator subunit 4
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:104,505,716...104,609,410
Ensembl chr14:104,505,716...104,609,408
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Rfx3
regulatory factor X3
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 1:225,449,872...225,709,622
Ensembl chr 1:225,456,187...225,709,402
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Slit2
slit guidance ligand 2
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Tbc1d32
TBC1 domain family, member 32
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Tmem67
transmembrane protein 67
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Upf1
UPF1, RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: GDF1-related condition
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568
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Zic3
Zic family member 3
ISS
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Cfap52
cilia and flagella associated protein 52
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility
OMIM ClinVar
PMID:25469542 PMID:25741868 PMID:33139725
NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934
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Cfap45
cilia and flagella associated protein 45
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility
OMIM ClinVar
PMID:33139725
NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
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Cirop
ciliated left-right organizer metallopeptidase
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal
OMIM ClinVar
PMID:25741868
NCBI chr15:28,151,018...28,158,149
Ensembl chr15:28,151,019...28,158,129
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Acaa1a
acetyl-CoA acyltransferase 1A
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:119,079,401...119,088,626
Ensembl chr 8:119,079,775...119,088,624
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Acvr2b
activin A receptor type 2B
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
OMIM ClinVar
PMID:2049719 PMID:9536098 PMID:9916847 PMID:16199547 PMID:17576681 PMID:21864452 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30120289 PMID:30622330 More...
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Ctdspl
CTD small phosphatase like
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,642,729...118,767,238
Ensembl chr 8:118,642,672...118,767,117
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Dlec1
DLEC1 cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655
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Epm2aip1
EPM2A interacting protein 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:111,233,871...111,241,219
Ensembl chr 8:111,233,826...111,241,871
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Exog
exo/endonuclease G
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:119,184,974...119,204,819
Ensembl chr 8:119,185,136...119,204,672
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Golga4
golgin A4
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,208,200...118,285,003
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Itga9
integrin subunit alpha 9
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754
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Lrrfip2
LRR binding FLII interacting protein 2
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:111,091,453...111,193,947
Ensembl chr 8:111,091,503...111,193,255
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Mir26a
microRNA 26a
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
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Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Oxsr1
oxidative stress responsive kinase 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:25741868
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Plcd1
phospholipase C, delta 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
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Scn10a
sodium voltage-gated channel alpha subunit 10
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Slc22a13
solute carrier family 22 member 13
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,922,367...118,934,020
Ensembl chr 8:118,922,367...118,953,635
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Slc22a14
solute carrier family 22, member 14
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,894,537...118,916,416
Ensembl chr 8:118,895,259...118,908,255
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Vill
villin-like
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:118,776,718...118,794,983
Ensembl chr 8:118,776,742...118,794,983
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Xylb
xylulokinase
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chr 8:119,093,466...119,128,858
Ensembl chr 8:119,096,029...119,128,848
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Eif4ebp2
eukaryotic translation initiation factor 4E binding protein 2
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal
ClinVar
PMID:12447384 PMID:18579681 PMID:28492532
NCBI chr20:29,379,444...29,400,110
Ensembl chr20:29,382,668...29,399,946
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Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-related disorder
OMIM ClinVar
PMID:9354794 PMID:9536098 PMID:12447384 PMID:16199547 PMID:17576681 PMID:18579681 PMID:19064609 PMID:19553149 PMID:19933292 PMID:22352765 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29368431 More...
NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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Pald1
phosphatase domain containing, paladin 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal
ClinVar
PMID:28492532
NCBI chr20:29,269,814...29,334,850
Ensembl chr20:29,270,193...29,334,858
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Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal
ClinVar
PMID:28492532
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22577226 PMID:25504577 PMID:25741868 PMID:26531781 PMID:28492532 More...
NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
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Mmp21
matrix metallopeptidase 21
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal | ClinVar Annotator: match by term: MMP21-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:26429889 PMID:26437028 PMID:26437029 PMID:28492532 More...
NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855
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Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal | ClinVar Annotator: match by term: PKD1L1-related condition
OMIM ClinVar
PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:30791085 PMID:31026592 PMID:32111882 PMID:33655537 PMID:34008892 PMID:35691949 PMID:38247840 More...
NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
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Mns1
meiosis-specific nuclear structural 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215
NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
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Tex9
testis expressed 9
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition
ClinVar
PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215
NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
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Aicda
activation-induced cytidine deaminase
ISO
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826
RGD:32716386
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Ccl4
C-C motif chemokine ligand 4
ISO
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr2
C-C motif chemokine receptor 2
ISO
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662
RGD:8661728
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17404324 PMID:8035028
RGD:10449527
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013
RGD:8158041 , RGD:40890273
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Il2rb
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:32038622 PMID:30067973
RGD:40924560 , RGD:40924629
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
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Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltb
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381
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Mbl2
mannose binding lectin 2
disease_progression susceptibility
ISO
protein:increased expression:serum: DNA:SNPs,haplotype:promoter,exon: DNA:polymorphism:promoter:
RGD
PMID:17357060 PMID:26297290 PMID:26297290 PMID:22995279 PMID:17357060
RGD:8693721 , RGD:11522692 , RGD:11522692 , RGD:8693726 , RGD:8693721
NCBI chr 1:228,016,439...228,024,736
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Mir155
microRNA 155
ISO
RGD
PMID:31182615
RGD:21081525
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir21
microRNA 21
treatment
ISO
RGD
PMID:31608064
RGD:40925951
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer: (rs9271858) (human)
CTD RGD
PMID:23291585 PMID:23291585
RGD:127285406
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tlr2
toll-like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tnf
tumor necrosis factor
severity
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Leukemia, acute, X-linked
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 PMID:21680795 More...
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Btk
Bruton tyrosine kinase
ameliorates
ISO ISS
ClinVar Annotator: match by term: X-linked agammaglobulinemia OMIM:300755 CTD Direct Evidence: marker/mechanism Human gene in mouse model human gene in a mouse model DNA:mutations:exon, intron:multiple
OMIM ClinVar MouseDO CTD RGD
PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10678660 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11564824 PMID:11586956 PMID:11668622 PMID:11742281 PMID:11809909 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15661032 PMID:16053733 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16712653 PMID:16751014 PMID:16862044 PMID:16913189 PMID:16951917 PMID:17045652 PMID:17164954 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21397315 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24820629 PMID:24885015 PMID:25142992 PMID:25525159 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26981933 PMID:27512878 PMID:27577878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:29921932 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30627929 PMID:30697212 PMID:31803177 PMID:32499645 PMID:32581362 PMID:32888943 PMID:33042921 PMID:33224144 PMID:33377626 PMID:34029777 PMID:34975878 PMID:20574453 PMID:15142874 PMID:12655572 PMID:15024743 More...
RGD:124715475 , RGD:124713551 , RGD:11040698 , RGD:11040588
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia
ClinVar
PMID:26809805 PMID:28492532 PMID:34120753 PMID:36100708
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISS
OMIM:300310 | OMIM:300755
MouseDO
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked
ClinVar
PMID:8758136
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:24550228 PMID:28492532
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:28492532
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Cox7b
cytochrome c oxidase subunit 7B
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:24550228 PMID:28492532
NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
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Magt1
magnesium transporter 1
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25640679 PMID:25741868 PMID:25956530 PMID:26422833 PMID:27770395 PMID:28353193 PMID:28492532 PMID:31036665 PMID:31993868 PMID:32499645 PMID:32581362 PMID:33831577 More...
NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
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Pgk1
phosphoglycerate kinase 1
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:28492532
NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked
ClinVar
PMID:25741868
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Sh2d1a
SH2 domain containing 1A
ISO ISS
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition OMIM:308240
OMIM ClinVar MouseDO
PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 PMID:10549287 PMID:10556288 PMID:10598819 PMID:10691868 PMID:10694488 PMID:10898506 PMID:10934222 PMID:11034354 PMID:11049992 PMID:11133747 PMID:11159547 PMID:11414741 PMID:11477068 PMID:11493483 PMID:11520777 PMID:11678908 PMID:12224001 PMID:12356686 PMID:14583885 PMID:15359110 PMID:15632210 PMID:15661030 PMID:15682426 PMID:15711562 PMID:15908972 PMID:15992610 PMID:16199547 PMID:16328363 PMID:16720617 PMID:17576681 PMID:18055393 PMID:19621458 PMID:19937601 PMID:20632414 PMID:20660790 PMID:21119115 PMID:21707584 PMID:21815800 PMID:22493517 PMID:22970278 PMID:23280491 PMID:23829589 PMID:24616127 PMID:24723092 PMID:24923536 PMID:24985396 PMID:25741868 PMID:27209435 PMID:28482391 PMID:28492532 PMID:28816794 PMID:29604111 PMID:29709555 PMID:30572125 PMID:31415280 PMID:32150605 PMID:32542393 PMID:32888943 PMID:33329693 PMID:35367395 More...
NCBI chr X:121,373,693...121,401,923
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Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked
ClinVar
PMID:25741868
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
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Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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Gria3
glutamate ionotropic receptor AMPA type subunit 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked
ClinVar
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
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Sh2d1a
SH2 domain containing 1A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked
ClinVar
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
NCBI chr X:121,373,693...121,401,923
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Stag2
STAG2 cohesin complex component
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked
ClinVar
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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Thoc2
THO complex subunit 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked
ClinVar
PMID:17080092 PMID:17989220 PMID:21119115 PMID:25666262 PMID:26581487 PMID:28492532 More...
NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513
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Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1543760 PMID:9536098 PMID:16199547 PMID:17080092 PMID:17576681 PMID:17989220 PMID:18068526 PMID:20517649 PMID:21119115 PMID:21173700 PMID:21281876 PMID:21543760 PMID:21674762 PMID:22228567 PMID:23131490 PMID:23818254 PMID:23944711 PMID:23973892 PMID:24033266 PMID:24084330 PMID:24616127 PMID:25640679 PMID:25666262 PMID:25741868 PMID:25801017 PMID:25943627 PMID:26581487 PMID:27317434 PMID:27537055 PMID:27747465 PMID:27815752 PMID:28492532 PMID:28936583 PMID:29312354 PMID:29501442 PMID:29665027 PMID:30755392 PMID:31754776 PMID:32542393 More...
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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