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: lymphoproliferative syndrome
Accession: DOID:0060704
browse the term
Definition: A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)
Synonyms: exact_synonym: Combined immunodeficiency due to ITK deficiency; Duncan disease; Duncan's syndrome; EBVS; Epstein Barr Virus Induced Lymphoproliferative Disease In Males; Epstein Barr Virus Infection, Familial Fatal; Familial Fatal Epstein Barr Infection; IMD5; INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO; Immunodeficiency 5; Immunodeficiency, X Linked Progressive Combined Variable; LYP; Lymphoproliferative Disorder; Purtilo Syndrome; Purtilo Syndromes; X Linked Lymphoproliferative Disease; X-linked lymphoproliferative diseases; X-linked lymphoproliferative disorder; X-linked lymphoproliferative disorders; X-linked lymphoproliferative syndrome; X-linked lymphoproliferative syndromes; XLP; XLPD; lymphoproliferative disorders
related_synonym: EBV infection, severe, susceptibility to; Lymphoproliferative disorders, susceptibility to
primary_id: MESH:D008232
xref: MIM:PS308240 ; ORDO:538963
GViewer not supported for the selected species.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
B2m
beta-2-microglobulin
ISO
associated with Herpesviridae Infections associated with kidney transplantation
RGD
PMID:9067691 PMID:16282467
RGD:6482705 RGD:6483039
NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
G
Ccl22
C-C motif chemokine ligand 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35534561
NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032
G
Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:deletions
RGD
PMID:7539157 PMID:15148335
RGD:11049166 RGD:1600310
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Flt3
fms related receptor tyrosine kinase 3
ISO
RGD
PMID:15718420
RGD:11049481
NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
G
Itk
IL2 inducible T cell kinase
ISO
ClinVar Annotator: match by term: Lymphoproliferative disorder
ClinVar
NCBI chrNW_004955408:11,387,595...11,447,896
Ensembl chrNW_004955408:11,387,589...11,448,199
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Duncan disease
ClinVar
PMID:25741868
NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579
G
Sh2d1a
SH2 domain containing 1A
ISO
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: Lymphoproliferative syndrome | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome
ClinVar
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: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 chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
G
Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Duncan disease
ClinVar
PMID:25741868
NCBI chrNW_004955545:2,881,954...2,891,021
Ensembl chrNW_004955545:2,881,563...2,891,509
G
Slc11a1
solute carrier family 11 member 1
ISO
DNA:deletion:3' utr:*55_*58delTGTG (human)
RGD
PMID:16734634
RGD:5684949
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22859607
RGD:6892715
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:nonsense mutation
RGD
PMID:10560675
RGD:1601413
NCBI chrNW_004955437:1,480,217...1,499,032
Ensembl chrNW_004955437:1,477,341...1,498,575
G
Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Dot1l
DOT1 like histone lysine methyltransferase
treatment
ISO
RGD
PMID:23801631
RGD:9588291
NCBI chrNW_004955495:5,907,486...5,958,241
Ensembl chrNW_004955495:5,909,880...5,959,027
G
Rnf20
ring finger protein 20
disease_progression
ISO
RGD
PMID:23412334
RGD:9831405
NCBI chrNW_004955419:24,273,714...24,299,454
Ensembl chrNW_004955419:24,273,714...24,299,460
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcb1
ATP binding cassette subfamily B member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snps, haplotype:multiple (human)
CTD RGD
PMID:22674224
RGD:8657089
NCBI chrNW_004955432:4,911,774...5,085,349
G
Abcc2
ATP binding cassette subfamily C member 2
treatment
ISO
DNA:SNPs: :rs717620(human) DNA:SNP:5'UTR:rs717620(human)
RGD
PMID:24404132 PMID:25007187
RGD:11080959 RGD:11080979
NCBI chrNW_004955507:5,724,788...5,791,281
Ensembl chrNW_004955507:5,724,762...5,790,812
G
Abcg2
ATP binding cassette subfamily G member 2 (JR blood group)
disease_progression
ISO
mRNA:increased expression:mononuclear cell:
RGD
PMID:12100141 PMID:15521915
RGD:11081076 RGD:11081143
NCBI chrNW_004955474:12,365,903...12,408,715
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984797 PMID:21898527
NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
G
Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684603 PMID:19684604
NCBI chrNW_004955425:15,253,951...15,433,246
Ensembl chrNW_004955425:15,253,211...15,433,934
G
Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chrNW_004955588:159,462...233,047
Ensembl chrNW_004955588:159,462...233,047
G
Bax
BCL2 associated X, apoptosis regulator
ISO
OMIM
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
G
Bcl2
BCL2 apoptosis regulator
severity
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:25982455
RGD:11076595
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
G
Bcl2l1
BCL2 like 1
treatment
ISO
mRNA:increased expression:blood, mononuclear cell (human)
RGD
PMID:12469194 PMID:19020783
RGD:11353852 RGD:11353866
NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
G
Bcr
BCR activator of RhoGEF and GTPase
ISO
OMIM
NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386
G
Casp8
caspase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22010212
NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
G
Cast
calpastatin
ISO
protein:increased expresssion:B cell
RGD
PMID:11264179
RGD:5509822
NCBI chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169
G
Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:22391157
RGD:11352824
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:9292526
RGD:11352271
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
G
Cd46
CD46 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:16353080
RGD:11352810
NCBI chrNW_004955406:43,002,817...43,034,555
G
Cd79b
CD79b molecule
ISO
protein:decreased expression:bone marrow, mononuclear cell (human)
RGD
PMID:21487112
RGD:11250414
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
G
Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)
RGD
PMID:24283754
RGD:11354967
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
G
Cdk6
cyclin dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24736461
NCBI chrNW_004955432:9,521,794...9,727,772
Ensembl chrNW_004955432:9,521,794...9,726,417
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
G
Cebpe
CCAAT enhancer binding protein epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684604
NCBI chrNW_004955409:37,186,282...37,187,914
Ensembl chrNW_004955409:37,186,039...37,187,921
G
Cfb
complement factor B
ISO
DNA:missense mutation:p.R32Q b(human)
RGD
PMID:6958349
RGD:11041155
NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
G
Crebbp
CREB binding protein
disease_progression
ISO
DNA:mutations:multiple
RGD
PMID:25917266
RGD:11060149
NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
G
Crlf2
cytokine receptor like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chrNW_004955499:940,250...955,458
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:9250830
RGD:11039038
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Cspg4
chondroitin sulfate proteoglycan 4
severity
ISO
RGD
PMID:8562939
RGD:734840
NCBI chrNW_004955450:2,631,310...2,663,118
Ensembl chrNW_004955450:2,631,327...2,662,269
G
Dhfr
dihydrofolate reductase
disease_progression
ISO
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human)
RGD
PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948
RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545
NCBI chrNW_004955418:29,274,170...29,283,028
G
Dnmt3a
DNA methyltransferase 3 alpha
treatment
ISO
DNA:mutations:exon, intron:p.R882(human)
RGD
PMID:25242092
RGD:11041125
NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
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Dntt
DNA nucleotidylexotransferase
ISO
protein:increased activity:peripheral blood,bone marrow:
RGD
PMID:7020399
RGD:8694149
NCBI chrNW_004955507:2,494,074...2,551,326
Ensembl chrNW_004955507:2,493,718...2,551,336
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Dpyd
dihydropyrimidine dehydrogenase
no_association disease_progression
ISO
DNA:SNPs: :2194G>A, 1156G>T (human) DNA:SNP: :85T>C (human) DNA:splice-site mutation:intron:IVS14+1G>A (human)
RGD
PMID:26846104
RGD:11098453
NCBI chrNW_004955435:2,007,185...2,800,907
Ensembl chrNW_004955435:2,007,185...2,766,138
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Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chrNW_004955513:5,491,446...5,642,559
Ensembl chrNW_004955513:5,547,313...5,641,499
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Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chrNW_004955437:396,736...411,144
Ensembl chrNW_004955437:396,742...411,144
G
Eng
endoglin
disease_progression
ISO
RGD
PMID:17572488
RGD:11041565
NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:missense mutation, haplotype:exon:p.H139R (human) DNA:polymorphisms:exon DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation, haplotype:exon:p.Y113H (human)
RGD CTD
PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568
RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114
NCBI chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
susceptibility
ISO
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) DNA:SNPs: :8092C>A, 19007G>A (human)
RGD
PMID:16435384 PMID:16723154
RGD:11252160 RGD:11340204
NCBI chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
no_association
ISO
DNA:haplotype DNA:missense mutations: :p.D312N, p.K751Q (human)
RGD
PMID:19101034 PMID:21987080
RGD:11252192 RGD:11340201
NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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Erg
ETS transcription factor ERG
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chrNW_004955407:37,372,471...37,613,674
Ensembl chrNW_004955407:37,369,641...37,542,751
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Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:26102509
NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:8429686
RGD:11340211
NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
G
Fas
Fas cell surface death receptor
disease_progression
ISO
protein:increased expression:CD34+ bone marrow cell
RGD
PMID:9711907 PMID:10500800
RGD:11049148 RGD:11049157
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Fga
fibrinogen alpha chain
ISO
protein:increased expression:serum (human)
RGD
PMID:25317080
RGD:11040558
NCBI chrNW_004955471:8,806,964...8,814,671
Ensembl chrNW_004955471:8,806,650...8,816,791
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Flt3
fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: FLT3-related condition
OMIM ClinVar
PMID:11290608 PMID:11442493 PMID:14670924 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439
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Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25013492
NCBI chrNW_004955419:853,891...871,729
Ensembl chrNW_004955419:851,152...871,522
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115686
NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515
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Gnb1
G protein subunit beta 1
ISO
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 ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32901917 PMID:32918542 PMID:32963807 More...
NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066
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Gpi
glucose-6-phosphate isomerase
ISO
RGD
PMID:6589021
RGD:11051848
NCBI chrNW_004955468:3,980,999...4,007,553
Ensembl chrNW_004955468:3,980,999...4,008,652
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:17317918 PMID:24698347
RGD:11352774 RGD:11352812
NCBI chrNW_004955532:1,298,336...1,298,830
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Gsr
glutathione-disulfide reductase
ISO
RGD
PMID:24191316
RGD:11059506
NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
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Gstp1
glutathione S-transferase pi 1
no_association disease_progression susceptibility
ISO
DNA:polymorphism: :1578 a>G(human) DNA:haplotype:cds: DNA:transition mutation:exon:
RGD
PMID:10666194 PMID:15738600 PMID:23979883
RGD:10450829 RGD:10755321 RGD:10755417
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
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H1-2
H1.2 linker histone, cluster member
susceptibility
ISO
DNA:SNP, haplotype:enhancer: (rs807212) (human)
RGD
PMID:19806355
RGD:10755490
NCBI chrNW_004955483:961,317...962,727
Ensembl chrNW_004955483:961,343...961,984
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Hck
HCK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17344919
NCBI chrNW_004955422:28,934,512...28,986,998
Ensembl chrNW_004955422:28,932,653...28,986,998
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Hdac1
histone deacetylase 1
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chrNW_004955452:10,636,366...10,668,873
Ensembl chrNW_004955452:10,636,366...10,670,864
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Hdac2
histone deacetylase 2
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chrNW_004955526:2,739,099...2,759,640
Ensembl chrNW_004955526:2,728,377...2,759,707
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Hdac4
histone deacetylase 4
treatment
ISO
RGD
PMID:23948281
RGD:9681454
NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210
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Hfe
homeostatic iron regulator
no_association
ISO
DNA:missense mutation: :p.H63D (human) DNA:missense mutation:cds:p.H63D (human) DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:10627122 PMID:17107905
RGD:10755557 RGD:10755558
NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
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Hk1
hexokinase 1
ISO
protein:decreased activity:platelet
RGD
PMID:21921332
RGD:11353881
NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
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Hlf
HLF transcription factor, PAR bZIP family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chrNW_004955451:7,309,895...7,364,166
Ensembl chrNW_004955451:7,309,895...7,364,172
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Hoxd4
homeobox D4
ISO
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
ClinVar
PMID:15776434
NCBI chrNW_004955403:20,510,364...20,526,564
Ensembl chrNW_004955403:20,510,364...20,526,353
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
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Ifng
interferon gamma
susceptibility
ISO
DNA:SNP: :rs2069727(human)
RGD
PMID:21067287
RGD:10755691
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Ikzf1
IKAROS family zinc finger 1
ISO
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
ClinVar
PMID:25741868 PMID:27993330 PMID:28492532
NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004955457:2,608,892...2,763,036
Ensembl chrNW_004955457:2,608,894...2,755,455
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Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004955451:14,483,669...14,571,108
Ensembl chrNW_004955451:14,484,132...14,536,916
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Il10
interleukin 10
treatment
ISO
protein:decreased expression:blood
RGD
PMID:15860861 PMID:21653647
RGD:11049158 RGD:11049169
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Irf4
interferon regulatory factor 4
ISO
DNA:SNP:intron:rs12203592 (human)
RGD
PMID:19897031
RGD:11526162
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
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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
RGD:10766474
NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
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Kdm2b
lysine demethylase 2B
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:21310926
RGD:9588255
NCBI chrNW_004955482:6,774,021...6,885,113
Ensembl chrNW_004955482:6,774,059...6,887,171
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Kdm3b
lysine demethylase 3B
ISO
protein:increased expression:bone marrow, mononuclear cell (human)
RGD
PMID:22615488
RGD:9586728
NCBI chrNW_004955418:2,026,254...2,098,223
Ensembl chrNW_004955418:2,026,254...2,098,223
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Kdm6a
lysine demethylase 6A
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chrNW_004955516:3,151,350...3,346,832
Ensembl chrNW_004955516:3,149,948...3,346,832
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
CTD MouseDO
PMID:24736461 PMID:25730765
NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:17910045 PMID:25917266
RGD:11060148 RGD:11060149
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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Lmo2
LIM domain only 2
ISO
OMIM:247640 | OMIM:613065
MouseDO
NCBI chrNW_004955422:12,354,865...12,362,026
Ensembl chrNW_004955422:12,354,845...12,362,470
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LOC102004641
cytochrome b-245 light chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell:
RGD
PMID:19222940
RGD:11040545
NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118
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LOC102009223
cytochrome P450 1B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131
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LOC102010322
cytochrome P450 1A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chrNW_004955450:3,165,107...3,171,894
Ensembl chrNW_004955450:3,165,106...3,171,942
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LOC102010850
cytochrome P450 1A1
susceptibility no_association
ISO
DNA:polymorphism:cds:2452C>A(p.T461N)(human) DNA:polymorphism:3"UTR:rs4646903(human) DNA:polymorphism:3'UTR:3801T>C(human)
RGD
PMID:16676594 PMID:22964275 PMID:23725389
RGD:11352714 RGD:11352725 RGD:11352728
NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
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LOC102026028
cytochrome P450 2E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11774269
NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
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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 chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
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Mthfr
methylenetetrahydrofolate reductase
disease_progression treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) DNA:missense mutation:cds:677C>T (human)
CTD RGD
PMID:16706930 PMID:19923983 PMID:21644011
RGD:10449398 RGD:10449407
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility disease_progression no_association
ISO
DNA:polymorphism: :2756A>G(human) DNA:SNP::rs10925235(human) DNA:polymorphism: :66A>G(human)
RGD
PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150
RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141
NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:SNP: :rs3776455(human) CTD Direct Evidence: marker/mechanism DNA:haplotype:cds:
RGD CTD
PMID:17136115 PMID:23940529
RGD:11531133 RGD:11531135
NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:25784651
RGD:11532748
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
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Nbn
nibrin
ISO
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
ClinVar OMIM
PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 PMID:15474156 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:26534844 PMID:26564480 PMID:26681312 PMID:26722329 PMID:26787654 PMID:26898890 PMID:27153395 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28261280 PMID:28374160 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:35654374 PMID:36346689 More...
NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133
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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:20510681 PMID:23922896
RGD:11533639 RGD:11533646
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
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Notch3
notch receptor 3
ISO
OMIM:247640 | OMIM:613065
MouseDO
NCBI chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism DNA:mutation: :609C>T (human) DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
CTD RGD
PMID:11774269 PMID:17332311 PMID:18444911
RGD:10769347 RGD:10769359
NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:missense mutation:cds:
RGD
PMID:25204082
RGD:11535045
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24076604
NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624
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Nt5c2
5'-nucleotidase, cytosolic II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23377183
NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
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Nup214
nucleoporin 214
ISO
OMIM
NCBI chrNW_004955513:955,639...1,038,912
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P2ry8
P2Y receptor family member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chrNW_004955499:1,062,233...1,064,588
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Pag1
phosphoprotein membrane anchor with glycosphingolipid microdomains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004955444:487,028...636,440
Ensembl chrNW_004955444:608,711...629,146
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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 | ClinVar Annotator: match by term: PAX5-related condition
OMIM ClinVar
PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 PMID:30643249 PMID:35094443 More...
NCBI chrNW_004955419:29,395,631...29,577,272
Ensembl chrNW_004955419:29,395,389...29,570,952
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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 chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
mRNA:increased expression:blood (human)
RGD
PMID:27275197
RGD:11535025
NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537
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Prdm14
PR/SET domain 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19043588
NCBI chrNW_004955444:9,606,310...9,626,772
Ensembl chrNW_004955444:9,612,059...9,626,817
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Pten
phosphatase and tensin homolog
ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
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Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992
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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 chrNW_004955406:39,725,841...39,732,527
Ensembl chrNW_004955406:39,725,446...39,734,586
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
OMIM
NCBI chrNW_004955464:11,304,611...11,317,420
Ensembl chrNW_004955464:11,310,628...11,315,924
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Tal2
TAL bHLH transcription factor 2
ISO
OMIM
NCBI chrNW_004955419:20,899,292...20,907,288
Ensembl chrNW_004955419:20,897,718...20,906,421
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
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Tcn2
transcobalamin 2
ISO
protein:altered activity:plasma:
RGD
PMID:8754152
RGD:11059889
NCBI chrNW_004955455:4,827,030...4,849,810
Ensembl chrNW_004955455:4,826,694...4,849,613
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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:15621763 PMID:23066086
RGD:11038654 RGD:11038667
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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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 chrNW_004955404:11,071,716...11,128,758
Ensembl chrNW_004955404:11,069,843...11,129,056
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Tpmt
thiopurine S-methyltransferase
no_association treatment
ISO
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) DNA:SNPs:multiple DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs: :multiple
RGD
PMID:17164697 PMID:22009189 PMID:24499706
RGD:10766474 RGD:11038720 RGD:11038723
NCBI chrNW_004955483:8,052,867...8,072,235
Ensembl chrNW_004955483:8,052,849...8,072,764
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Ttc12
tetratricopeptide repeat domain 12
ISO
DNA:hypermethylation:5'end:CpG dinucleotide
RGD
PMID:17657212
RGD:405866376
NCBI chrNW_004955412:14,945,237...15,011,560
Ensembl chrNW_004955412:14,945,116...15,011,708
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Tyms
thymidylate synthetase
treatment
ISO
DNA:repeats: : rs347430033(human)
RGD
PMID:25007187
RGD:11080979
NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
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Xrcc1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:missense mutation: :p.R194W (human) DNA:missense mutation, haplotype: :p.R399Q (human) DNA:missense mutation: :p.R399Q (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19101034 PMID:21983886
RGD:11252110 RGD:11252192
NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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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 chrNW_004955445:11,434,649...11,454,806
Ensembl chrNW_004955445:11,434,082...11,454,806
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Ada
adenosine deaminase
ISO
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 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
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:33442025 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:35729272 PMID:35729475 PMID:36685585 More...
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
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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 chrNW_004955445:12,623,333...12,640,127
Ensembl chrNW_004955445:12,621,972...12,639,835
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Cd247
CD247 molecule
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 PMID:31681265 More...
NCBI chrNW_004955462:9,466,706...9,539,897
Ensembl chrNW_004955462:9,469,255...9,538,882
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Cd3e
CD3e molecule
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990
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Cd3g
CD3g molecule
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117
NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922
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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 chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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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 chrNW_004955445:11,084,448...11,151,871
Ensembl chrNW_004955445:11,084,448...11,151,871
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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 chrNW_004955445:11,399,151...11,405,069
Ensembl chrNW_004955445:11,399,151...11,405,069
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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 chrNW_004955445:11,931,996...11,936,534
Ensembl chrNW_004955445:11,931,200...11,975,660
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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 chrNW_004955445:11,479,582...11,501,008
Ensembl chrNW_004955445:11,479,582...11,501,008
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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 chrNW_004955445:10,943,838...10,982,653
Ensembl chrNW_004955445:10,943,780...10,982,778
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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 chrNW_004955445:13,027,431...13,032,089
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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 chrNW_004955445:13,045,864...13,097,447
Ensembl chrNW_004955445:13,045,864...13,072,974
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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 chrNW_004955445:13,487,498...13,488,284
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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 chrNW_004955445:12,925,248...12,962,501
Ensembl chrNW_004955445:12,924,662...12,984,281
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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 chrNW_004955445:13,542,726...13,580,204
Ensembl chrNW_004955445:13,543,804...13,580,204
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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:16843266 PMID:17252020 PMID:17433830 PMID:17644747 PMID:18641513 PMID:19203666 PMID:21184155 PMID:22237106 PMID:22425895 PMID:23384681 PMID:23832011 PMID:24446122 PMID:25146434 PMID:25595890 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33040328 PMID:33365035 PMID:34173127 PMID:35482138 More...
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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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 chrNW_004955445:13,117,312...13,190,061
Ensembl chrNW_004955445:13,118,717...13,187,235
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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 chrNW_004955445:12,604,456...12,610,502
Ensembl chrNW_004955445:12,605,208...12,610,458
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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 chrNW_004955445:12,293,394...12,299,741
Ensembl chrNW_004955445:12,293,394...12,299,787
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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 chrNW_004955445:12,027,626...12,040,589
Ensembl chrNW_004955445:12,029,882...12,040,335
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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 chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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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 chrNW_004955445:13,496,919...13,530,689
Ensembl chrNW_004955445:13,496,919...13,530,689
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency
ClinVar
PMID:25326637 PMID:26467025 PMID:28492532 PMID:30287823
NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133
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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 chrNW_004955445:11,219,630...11,251,856
Ensembl chrNW_004955445:11,219,630...11,251,856
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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 chrNW_004955445:11,405,195...11,407,819
Ensembl chrNW_004955445:11,405,195...11,407,819
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Nhej1
non-homologous end joining factor 1
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 PMID:28492532 More...
NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876
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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 chrNW_004955445:10,836,404...10,842,811
Ensembl chrNW_004955445:10,836,545...10,842,410
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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 chrNW_004955445:13,097,438...13,111,825
Ensembl chrNW_004955445:13,099,747...13,115,284
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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 chrNW_004955445:12,425,738...12,450,830
Ensembl chrNW_004955445:12,422,204...12,450,024
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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 chrNW_004955445:11,355,227...11,368,392
Ensembl chrNW_004955445:11,355,227...11,368,392
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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 chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820
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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 chrNW_004955445:12,717,962...12,818,734
Ensembl chrNW_004955445:12,717,962...12,818,734
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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 chrNW_004955445:11,384,723...11,399,217
Ensembl chrNW_004955445:11,384,723...11,399,217
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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 chrNW_004955445:12,991,667...13,004,174
Ensembl chrNW_004955445:12,991,753...13,003,649
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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:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 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:28747913 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31031743 PMID:31632441 PMID:32373116 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35503492 PMID:37724703 More...
NCBI chrNW_004955422:9,891,878...9,928,569
Ensembl chrNW_004955422:9,891,878...9,919,504
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30307608 PMID:30778343 PMID:31388879 PMID:32888943 More...
NCBI chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732
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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 chrNW_004955445:12,017,500...12,029,507
Ensembl chrNW_004955445:12,017,500...12,029,507
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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 chrNW_004955445:12,542,824...12,604,355
Ensembl chrNW_004955445:12,542,818...12,604,355
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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 chrNW_004955445:11,990,916...12,009,178
Ensembl chrNW_004955445:11,990,792...12,011,553
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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 chrNW_004955445:12,837,616...12,868,631
Ensembl chrNW_004955445:12,837,586...12,865,758
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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 chrNW_004955445:11,252,732...11,290,890
Ensembl chrNW_004955445:11,252,732...11,291,501
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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 chrNW_004955445:10,755,336...10,829,797
Ensembl chrNW_004955445:10,755,312...10,831,900
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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 chrNW_004955445:10,708,147...10,722,109
Ensembl chrNW_004955445:10,709,681...10,722,264
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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 chrNW_004955445:10,984,675...10,996,707
Ensembl chrNW_004955445:10,984,237...10,996,707
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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 chrNW_004955445:11,454,802...11,462,625
Ensembl chrNW_004955445:11,454,802...11,462,625
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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 chrNW_004955445:11,408,552...11,409,730
Ensembl chrNW_004955445:11,408,552...11,409,730
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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 chrNW_004955445:12,308,285...12,399,012
Ensembl chrNW_004955445:12,308,285...12,399,012
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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 chrNW_004955445:11,934,907...11,975,670
Ensembl chrNW_004955445:11,931,200...11,975,660
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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 chrNW_004955445:11,466,579...11,469,123
Ensembl chrNW_004955445:11,466,579...11,469,123
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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 chrNW_004955445:12,401,348...12,420,548
Ensembl chrNW_004955445:12,401,285...12,419,607
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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 chrNW_004955445:13,210,606...13,343,344
Ensembl chrNW_004955445:13,208,413...13,314,827
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Tp53rk
TP53 regulating kinase
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 chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570
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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 chrNW_004955445:11,958,649...11,962,623
Ensembl chrNW_004955445:11,958,625...11,962,508
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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 chrNW_004955445:12,871,355...12,897,733
Ensembl chrNW_004955445:12,871,355...12,897,733
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Ube2c
ubiquitin conjugating enzyme E2 C
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 chrNW_004955445:11,474,826...11,479,479
Ensembl chrNW_004955445:11,469,063...11,478,759
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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 chrNW_004955445:11,723,634...11,730,304
Ensembl chrNW_004955445:11,721,674...11,730,302
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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 chrNW_004955445:11,501,044...11,512,109
Ensembl chrNW_004955445:11,502,918...11,512,143
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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 chrNW_004955445:12,279,799...12,284,819
Ensembl chrNW_004955445:12,279,799...12,283,506
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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 chrNW_004955445:11,666,987...11,682,180
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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 chrNW_004955445:12,451,644...12,474,251
Ensembl chrNW_004955445:12,448,760...12,474,251
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Znf335
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 chrNW_004955445:11,334,742...11,354,584
Ensembl chrNW_004955445:11,335,908...11,354,300
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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 chrNW_004955445:11,411,540...11,415,074
Ensembl chrNW_004955445:11,410,660...11,434,280
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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 chrNW_004955445:11,416,346...11,434,298
Ensembl chrNW_004955445:11,416,346...11,434,298
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18688853
NCBI chrNW_004955465:6,053,600...6,201,254
Ensembl chrNW_004955465:6,054,931...6,200,377
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Card11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955421:205,297...210,944
Ensembl chrNW_004955421:205,297...210,944
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Ccr7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955451:15,086,119...15,101,862
Ensembl chrNW_004955451:15,086,119...15,095,561
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Cd274
CD274 molecule
disease_progression
ISO
RGD
PMID:27418641
RGD:41412177
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Cd28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
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Cd68
CD68 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
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Cd80
CD80 molecule
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chrNW_004955427:19,237,251...19,274,001
Ensembl chrNW_004955427:19,236,445...19,261,517
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Cd86
CD86 molecule
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Csnk1a1
casein kinase 1 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955415:4,921,356...4,966,705
Ensembl chrNW_004955415:4,921,852...4,966,705
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Csnk2a1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955597:326,601...397,112
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Csnk2b
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955437:210,541...215,725
Ensembl chrNW_004955437:210,838...219,694
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Fas
Fas cell surface death receptor
susceptibility
ISO
protein:increased expression:peripheral blood mononuclear cell: DNA:polymorphism:promoter: -670 G>A(human)
RGD
PMID:7513372 PMID:17962369
RGD:11049147 RGD:11049453
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Foxp3
forkhead box P3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23797717 PMID:23962110
RGD:38456007
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955411:36,403,156...36,597,660
Ensembl chrNW_004955411:36,401,842...36,512,054
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744
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Gpr183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955404:11,264,954...11,277,531
Ensembl chrNW_004955404:11,264,954...11,277,531
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955410:28,032,193...28,042,459
Ensembl chrNW_004955410:28,032,193...28,042,459
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Icos
inducible T cell costimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8800741 PMID:23962110
RGD:10755707
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955457:2,608,892...2,763,036
Ensembl chrNW_004955457:2,608,894...2,755,455
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8704212 PMID:23962110
RGD:11049460
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chrNW_004955408:4,058,052...4,065,999
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Il5
interleukin 5
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16425276
RGD:11354942
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
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Il6
interleukin 6
ISO
protein:increased expression:serum (human)
RGD
PMID:10374863
RGD:11060275
NCBI chrNW_004955410:25,079,835...25,084,390
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Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
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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 chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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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 chrNW_004955439:1,523,516...1,560,185
Ensembl chrNW_004955439:1,521,292...1,560,220
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Notch1
notch receptor 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:16707600
RGD:1580759
NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
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Plcg1
phospholipase C gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955445:15,787,496...15,823,859
Ensembl chrNW_004955445:15,787,496...15,823,859
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Prkcb
protein kinase C beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955493:2,395,494...2,710,522
Ensembl chrNW_004955493:2,395,109...2,710,934
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24090995
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Tal2
TAL bHLH transcription factor 2
ISO
RGD
PMID:1763056
RGD:1599285
NCBI chrNW_004955419:20,899,292...20,907,288
Ensembl chrNW_004955419:20,897,718...20,906,421
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Terf2
telomeric repeat binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17643074
NCBI chrNW_004955484:7,318,813...7,344,221
Ensembl chrNW_004955484:7,318,860...7,347,430
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Tlx1
T cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1683261 PMID:1717256
RGD:1599439
NCBI chrNW_004955485:9,070,601...9,076,063
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
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Tp73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
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Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004955495:2,697,508...2,755,468
Ensembl chrNW_004955495:2,695,730...2,755,824
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Blnk
B cell linker
susceptibility
ISO
DNA:splice-site mutation CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10583958
RGD:1600518
NCBI chrNW_004955507:2,398,694...2,466,461
Ensembl chrNW_004955507:2,397,400...2,466,788
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Btk
Bruton tyrosine kinase
susceptibility
ISO
DNA:insertions, point mutations CTD Direct Evidence: therapeutic
RGD CTD
PMID:8162018 PMID:15142874
RGD:1600526
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chrNW_004955493:6,540,160...6,544,077
G
Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605
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Cd79b
CD79b molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:14660746
RGD:1599837
NCBI chrNW_004955570:1,270,710...1,295,658
Ensembl chrNW_004955570:1,271,131...1,295,773
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955422:873,735...886,560
Ensembl chrNW_004955422:873,735...886,560
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,472,833...8,474,745
Ensembl chrNW_004955455:8,472,833...8,479,129
G
CUNH22orf15
chromosome unknown C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,474,717...8,478,840
Ensembl chrNW_004955455:8,470,295...8,477,310
G
Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,415,868...8,418,753
Ensembl chrNW_004955455:8,415,839...8,421,762
G
Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
G
Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,458,622...8,464,037
Ensembl chrNW_004955455:8,459,428...8,469,053
G
Slc2a11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,374,144...8,399,766
Ensembl chrNW_004955455:8,370,418...8,399,779
G
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
G
Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,483,685...8,485,514
Ensembl chrNW_004955455:8,484,198...8,485,357
G
Znf70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955455:8,486,052...8,492,437
Ensembl chrNW_004955455:8,490,100...8,491,440
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive | ClinVar Annotator: match by term: CD79A-related condition
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 chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605
G
Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aldh18a1
aldehyde dehydrogenase 18 family member A1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955507:1,892,087...1,946,526
Ensembl chrNW_004955507:1,892,061...1,946,703
G
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 | ClinVar Annotator: match by term: B cell linker protein deficiency
OMIM ClinVar
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24582315 PMID:25741868 PMID:28492532 PMID:30619340 More...
NCBI chrNW_004955507:2,398,694...2,466,461
Ensembl chrNW_004955507:2,397,400...2,466,788
G
Cc2d2b
coiled-coil and C2 domain containing 2B
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955507:2,160,454...2,262,333
Ensembl chrNW_004955507:2,170,828...2,260,580
G
Ccnj
cyclin J
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955507:2,274,695...2,293,637
Ensembl chrNW_004955507:2,274,702...2,293,637
G
Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955507:2,035,918...2,141,327
Ensembl chrNW_004955507:2,036,050...2,137,377
G
Tctn3
tectonic family member 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004955507:1,972,645...1,993,967
Ensembl chrNW_004955507:1,973,500...1,994,609
G
Znf518a
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 chrNW_004955507:2,350,734...2,377,855
Ensembl chrNW_004955507:2,373,166...2,377,611
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955570:1,270,710...1,295,658
Ensembl chrNW_004955570:1,271,131...1,295,773
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 PMID:35101336 PMID:37277074 More...
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc39a7
solute carrier family 39 member 7
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive | ClinVar Annotator: match by term: SLC39A7-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30718914
NCBI chrNW_004955437:1,774,301...1,778,092
Ensembl chrNW_004955437:1,774,301...1,778,092
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 PMID:22968692 More...
NCBI chrNW_004955469:11,049,373...11,751,235
Ensembl chrNW_004955469:11,047,048...11,548,233
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157164
NCBI chrNW_004955538:1,469,544...1,475,010
Ensembl chrNW_004955538:1,469,544...1,475,019
G
Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chrNW_004955415:31,876,508...31,878,289
Ensembl chrNW_004955415:31,876,793...31,877,836
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261581
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10908157 PMID:17261581
NCBI chrNW_004955486:1,839,642...1,910,080
G
Twist1
twist family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chrNW_004955410:22,003,981...22,005,483
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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:25741868 PMID:28492532 PMID:31131953 More...
NCBI chrNW_004955425:4,023,001...4,039,980
Ensembl chrNW_004955425:4,026,430...4,040,747
G
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 chrNW_004955425:4,123,004...4,149,484
Ensembl chrNW_004955425:4,122,976...4,153,511
G
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 chrNW_004955406:13,842,571...13,882,625
Ensembl chrNW_004955406:13,846,452...13,872,411
G
Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
G
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 chrNW_004955406:13,949,697...13,963,827
Ensembl chrNW_004955406:13,949,697...13,963,827
G
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 chrNW_004955425:3,763,302...3,764,432
G
CUNH1orf105
chromosome unknown C1orf105 homolog
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004955406:12,883,547...12,919,467
Ensembl chrNW_004955406:12,883,078...12,921,221
G
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 chrNW_004955406:13,964,087...13,991,691
Ensembl chrNW_004955406:13,964,087...13,991,691
G
Dnm3
dynamin 3
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004955406:12,345,483...12,881,182
Ensembl chrNW_004955406:12,345,693...12,881,269
G
Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
OMIM ClinVar
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:16199547 PMID:16537120 PMID:17576681 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:23840885 PMID:24033266 PMID:24043286 PMID:24728327 PMID:25502423 PMID:25525159 PMID:25741868 PMID:26563159 PMID:26942442 PMID:27153395 PMID:27789675 PMID:27884173 PMID:28492532 PMID:28668589 PMID:31131953 PMID:31172514 PMID:32441320 PMID:32499645 PMID:32602471 PMID:32888943 PMID:33816397 PMID:33838017 PMID:34171534 PMID:34573280 PMID:35059842 PMID:35741037 PMID:35741048 PMID:37683818 More...
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Faslg
Fas ligand
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
OMIM ClinVar
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 chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
G
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 chrNW_004955425:3,581,705...3,588,528
G
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 chrNW_004955425:3,685,626...3,692,482
Ensembl chrNW_004955425:3,682,327...3,692,397
G
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 chrNW_004955425:3,671,303...3,692,478
G
Ifit5
interferon induced protein with tetratricopeptide repeats 5
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chrNW_004955425:3,569,448...3,575,043
G
Itk
IL2 inducible T cell kinase
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:25741868
NCBI chrNW_004955408:11,387,595...11,447,896
Ensembl chrNW_004955408:11,387,589...11,448,199
G
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 chrNW_004955406:13,891,589...13,938,964
Ensembl chrNW_004955406:13,891,571...13,938,964
G
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 chrNW_004955425:3,718,291...3,755,942
Ensembl chrNW_004955425:3,718,206...3,756,142
G
Lipf
lipase F, gastric type
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chrNW_004955425:4,267,977...4,284,996
Ensembl chrNW_004955425:4,267,004...4,285,078
G
Lipj
lipase family member J
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chrNW_004955425:4,337,718...4,368,577
Ensembl chrNW_004955425:4,337,718...4,365,841
G
Lipk
lipase family member K
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chrNW_004955425:4,215,214...4,247,584
Ensembl chrNW_004955425:4,211,186...4,236,211
G
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 chrNW_004955425:4,150,780...4,170,912
Ensembl chrNW_004955425:4,150,780...4,182,131
G
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 chrNW_004955425:4,187,537...4,205,066
Ensembl chrNW_004955425:4,187,537...4,205,066
G
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 chrNW_004955406:12,274,191...12,290,219
Ensembl chrNW_004955406:12,274,193...12,290,219
G
Mmp9
matrix metallopeptidase 9
disease_progression
ISO
RGD
PMID:21376533
RGD:13204846
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
G
Myoc
myocilin
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004955406:12,182,115...12,194,683
Ensembl chrNW_004955406:12,182,046...12,199,669
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517660
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
G
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 chrNW_004955406:12,891,187...12,893,935
Ensembl chrNW_004955406:12,891,187...12,893,935
G
Prdx6
peroxiredoxin 6
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004955406:13,717,267...13,728,216
Ensembl chrNW_004955406:13,717,267...13,728,216
G
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 chrNW_004955406:14,053,122...14,123,023
Ensembl chrNW_004955406:14,053,122...14,123,029
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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 chrNW_004955425:4,368,620...4,667,947
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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 chrNW_004955406:14,024,183...14,036,206
Ensembl chrNW_004955406:14,024,313...14,035,948
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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 chrNW_004955425:3,474,814...3,560,138
Ensembl chrNW_004955425:3,509,142...3,560,138
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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 chrNW_004955406:13,734,098...13,838,966
Ensembl chrNW_004955406:13,734,811...13,838,989
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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 chrNW_004955425:4,045,789...4,091,942
Ensembl chrNW_004955425:4,045,725...4,092,019
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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 chrNW_004955406:12,985,339...13,064,863
Ensembl chrNW_004955406:12,985,856...13,065,855
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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 chrNW_004955406:13,391,162...13,402,479
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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 chrNW_004955406:13,477,077...13,493,309
Ensembl chrNW_004955406:13,477,077...13,493,309
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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 chrNW_004955406:12,223,736...12,260,506
Ensembl chrNW_004955406:12,223,736...12,260,317
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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 chrNW_004955406:14,000,003...14,028,673
Ensembl chrNW_004955406:14,000,282...14,011,645
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955457:11,451,851...11,562,692
Ensembl chrNW_004955457:11,451,851...11,562,696
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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 chrNW_004955403:22,449...104,577
Ensembl chrNW_004955403:22,449...104,948
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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 chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727
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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 chrNW_004955493:8,356,859...8,518,863
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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 chrNW_004955457:11,853,256...11,947,909
Ensembl chrNW_004955457:11,896,492...11,936,229
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Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency
OMIM 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 chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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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 chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
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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 chrNW_004955457:12,878,736...12,966,434
Ensembl chrNW_004955457:12,880,959...12,966,410
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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 chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
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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 chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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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 chrNW_004955457:12,107,141...12,180,614
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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 chrNW_004955403:264,969...321,370
Ensembl chrNW_004955403:264,980...321,484
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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 chrNW_004955457:12,729,277...12,733,057
Ensembl chrNW_004955457:12,731,279...12,732,979
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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 chrNW_004955457:11,983,201...12,085,870
Ensembl chrNW_004955457:12,006,306...12,085,799
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Icos
inducible T cell costimulator
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 chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404
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LOC102029370
cytochrome P450 20A1
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 chrNW_004955457:11,585,851...11,646,764
Ensembl chrNW_004955457:11,584,584...11,647,153
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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 chrNW_004955403:109,353...147,442
Ensembl chrNW_004955403:109,353...147,035
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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 chrNW_004955457:11,671,565...11,839,357
Ensembl chrNW_004955457:11,671,565...11,839,211
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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 chrNW_004955403:477,138...483,122
Ensembl chrNW_004955403:477,144...483,122
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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 chrNW_004955457:12,481,467...12,511,678
Ensembl chrNW_004955457:12,479,965...12,511,678
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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 chrNW_004955457:11,394,572...11,462,617
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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 chrNW_004955403:181,120...198,882
Ensembl chrNW_004955403:181,120...198,885
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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 chrNW_004955457:12,538,974...12,565,803
Ensembl chrNW_004955457:12,538,480...12,565,803
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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 chrNW_004955403:148,181...173,350
Ensembl chrNW_004955403:148,183...172,386
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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 chrNW_004955403:205,372...261,210
Ensembl chrNW_004955403:206,146...261,326
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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 chrNW_004955457:11,947,816...11,970,066
Ensembl chrNW_004955457:11,947,915...11,971,805
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955430:3,125,066...3,151,857
Ensembl chrNW_004955430:3,124,738...3,153,274
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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 chrNW_004955430:3,055,766...3,096,501
Ensembl chrNW_004955430:3,052,368...3,096,726
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18456719 PMID:18628094 PMID:19047918 PMID:19358724 PMID:20652921 PMID:20805368 PMID:20949522 PMID:20949621 PMID:21062266 PMID:21063026 PMID:21079152 PMID:21871821 PMID:22499344 PMID:22571758 PMID:22683711 PMID:23096712 PMID:23255105 PMID:24033266 PMID:24703799 PMID:24720724 PMID:24803665 PMID:25326637 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26242988 PMID:26521233 PMID:27577878 PMID:28492532 PMID:29298116 PMID:29493581 PMID:29948256 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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Nras
NRAS proto-oncogene, GTPase
ISO
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:2407301 PMID:2674680 PMID:2989702 PMID:3122217 PMID:12460918 PMID:16434492 PMID:17332249 PMID:17517660 PMID:18375819 PMID:19075190 PMID:19657110 PMID:19775298 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21305640 PMID:21586752 PMID:22499344 PMID:24284627 PMID:25741868 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:33681212 PMID:36130886 More...
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Faslg
Fas ligand
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b
ClinVar
PMID:8787672 PMID:25741868
NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955457:11,451,851...11,562,692
Ensembl chrNW_004955457:11,451,851...11,562,696
G
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 chrNW_004955403:22,449...104,577
Ensembl chrNW_004955403:22,449...104,948
G
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 chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727
G
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 chrNW_004955493:8,356,859...8,518,863
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 chrNW_004955457:11,853,256...11,947,909
Ensembl chrNW_004955457:11,896,492...11,936,229
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 chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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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 chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
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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 chrNW_004955457:12,878,736...12,966,434
Ensembl chrNW_004955457:12,880,959...12,966,410
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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 chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
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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:32181586 PMID:32499327 PMID:32499645 PMID:32531373 PMID:32623363 PMID:33864888 PMID:34034269 PMID:34111452 PMID:34128135 PMID:34234304 PMID:34619682 PMID:34628649 PMID:34975878 PMID:35250968 PMID:35599849 PMID:35753512 PMID:35999394 More...
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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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 chrNW_004955457:12,107,141...12,180,614
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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 chrNW_004955403:264,969...321,370
Ensembl chrNW_004955403:264,980...321,484
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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 chrNW_004955457:12,729,277...12,733,057
Ensembl chrNW_004955457:12,731,279...12,732,979
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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 chrNW_004955457:11,983,201...12,085,870
Ensembl chrNW_004955457:12,006,306...12,085,799
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Icos
inducible T cell costimulator
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 chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404
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Kcnh2
potassium voltage-gated channel subfamily H member 2
ISO
ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION
ClinVar
PMID:15176425 PMID:15840476 PMID:16432067 PMID:16831322 PMID:17905336 PMID:18752142 PMID:19038855 PMID:19306396 PMID:19490267 PMID:19716085 PMID:19841300 PMID:19996378 PMID:20197117 PMID:21063070 PMID:22581653 PMID:22949429 PMID:23303164 PMID:24217263 PMID:25741868 PMID:27803431 PMID:27871843 PMID:28082916 PMID:28492532 PMID:28532774 More...
NCBI chrNW_004955491:5,391,444...5,422,241
Ensembl chrNW_004955491:5,391,384...5,422,241
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LOC102029370
cytochrome P450 20A1
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 chrNW_004955457:11,585,851...11,646,764
Ensembl chrNW_004955457:11,584,584...11,647,153
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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 chrNW_004955403:109,353...147,442
Ensembl chrNW_004955403:109,353...147,035
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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 chrNW_004955457:11,671,565...11,839,357
Ensembl chrNW_004955457:11,671,565...11,839,211
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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 chrNW_004955403:477,138...483,122
Ensembl chrNW_004955403:477,144...483,122
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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 chrNW_004955457:12,481,467...12,511,678
Ensembl chrNW_004955457:12,479,965...12,511,678
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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 V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004955457:11,394,572...11,462,617
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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 chrNW_004955403:181,120...198,882
Ensembl chrNW_004955403:181,120...198,885
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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 chrNW_004955457:12,538,974...12,565,803
Ensembl chrNW_004955457:12,538,480...12,565,803
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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 chrNW_004955403:148,181...173,350
Ensembl chrNW_004955403:148,183...172,386
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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 chrNW_004955403:205,372...261,210
Ensembl chrNW_004955403:206,146...261,326
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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 chrNW_004955457:11,947,816...11,970,066
Ensembl chrNW_004955457:11,947,915...11,971,805
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tnfrsf11a
TNF receptor superfamily member 11a
ISO
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
OMIM ClinVar
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122
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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 chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcg2
ATP binding cassette subfamily G member 2 (JR blood group)
susceptibility
ISO
DNA:SNPs,haplotype: :rs1481012,rs2231142(human)
RGD
PMID:21918980
RGD:11080977
NCBI chrNW_004955474:12,365,903...12,408,715
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Acoxl
acyl-CoA oxidase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004955470:2,788,249...3,077,277
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Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chrNW_004955424:23,233,523...23,330,679
Ensembl chrNW_004955424:23,233,523...23,330,679
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Bcl2
BCL2 apoptosis regulator
severity treatment no_association
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human)
CTD RGD
PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 PMID:23770605 More...
RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Bmf
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004955416:7,048,654...7,068,917
Ensembl chrNW_004955416:7,052,290...7,068,910
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Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Cbl
Cbl proto-oncogene
severity
ISO
DNA:hypophosphorylation:CD5+ B cell: mRNA,protein:increased expression:CD5+ B cell:
RGD
PMID:17804547
RGD:11038803
NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chrNW_004955420:16,884,985...16,948,038
Ensembl chrNW_004955420:16,891,217...16,948,008
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd40lg
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Cd5
CD5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004955511:5,656,333...5,670,510
Ensembl chrNW_004955511:5,664,682...5,669,368
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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:10090943 PMID:10552962
RGD:11250403 RGD:151665190 RGD:151665202
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chrNW_004955416:13,963,300...14,038,691
Ensembl chrNW_004955416:13,981,657...14,039,705
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:15914560 PMID:16094420
RGD:11344923 RGD:11352246
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Dkc1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
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Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chrNW_004955422:28,380,595...28,427,012
Ensembl chrNW_004955422:28,380,591...28,421,301
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
severity
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:19484764 PMID:22739018
RGD:11252203 RGD:11252204
NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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Farp2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chrNW_004955542:279,489...395,524
Ensembl chrNW_004955542:280,008...379,166
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Il10
interleukin 10
disease_progression no_association
ISO
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) protein:increased expression:serum DNA:SNPs: :multiple
RGD
PMID:10638947 PMID:19573080 PMID:22945689
RGD:11041895 RGD:11049165 RGD:11049174
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b
interleukin 1 beta
severity
ISO
protein:decreased expression:plasma: DNA:SNP:promoter:-511C>T (human)
RGD
PMID:10870116 PMID:18271063
RGD:11051967 RGD:11522755
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma:
CTD RGD
PMID:10870116 PMID:18006695
RGD:11522755
NCBI chrNW_004955410:25,079,835...25,084,390
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12079517 PMID:12393648 PMID:18758461
RGD:11526160 RGD:11530024
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Itga4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chrNW_004955403:15,726,296...15,807,055
Ensembl chrNW_004955403:15,723,785...15,807,111
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004955496:1,728,840...1,827,749
Ensembl chrNW_004955496:1,728,840...1,828,698
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Ms4a1
membrane spanning 4-domains A1
ISO
RGD
PMID:19911856
RGD:2316994
NCBI chrNW_004955511:5,252,934...5,263,961
Ensembl chrNW_004955511:5,258,341...5,267,113
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
G
P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chrNW_004955482:7,048,674...7,087,525
Ensembl chrNW_004955482:7,048,776...7,086,926
G
Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
G
Plcg2
phospholipase C gamma 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27542411
NCBI chrNW_004955522:4,352,890...4,480,735
Ensembl chrNW_004955522:4,358,233...4,468,986
G
Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004955402:44,005,517...44,010,722
G
Polb
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004955536:542,179...595,198
Ensembl chrNW_004955536:540,836...595,198
G
Ppp2r5c
protein phosphatase 2 regulatory subunit B'gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chrNW_004955538:1,233,511...1,363,956
Ensembl chrNW_004955538:1,276,083...1,361,639
G
Prame
PRAME nuclear receptor transcriptional regulator
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537
G
Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chrNW_004955574:723,933...750,794
Ensembl chrNW_004955574:723,933...750,793
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
G
Qpct
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004955441:5,138,477...5,168,056
Ensembl chrNW_004955441:5,138,477...5,168,455
G
Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chrNW_004955433:11,185,726...11,237,645
Ensembl chrNW_004955433:11,185,077...11,237,645
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Sf3b1
splicing factor 3b subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22158541
NCBI chrNW_004955403:3,134,960...3,163,395
Ensembl chrNW_004955403:3,134,955...3,166,121
G
Sp140
SP140 nuclear body protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chrNW_004955453:4,864,812...4,911,699
G
Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
G
Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
G
Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chrNW_004955415:30,222,830...30,226,406
G
Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 RGD:11041895
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Tnfrsf11a
TNF receptor superfamily member 11a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chrNW_004955402:46,242,329...46,298,157
Ensembl chrNW_004955402:46,264,164...46,296,368
G
Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
G
Topbp1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004955501:4,907,687...4,974,995
Ensembl chrNW_004955501:4,908,137...4,976,453
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
RGD ClinVar
PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10867151 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 More...
RGD:11075074
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
G
Vdr
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
G
Xrcc1
X-ray repair cross complementing 1
no_association severity
ISO
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human) DNA:SNP: :p.R399Q (rs25487) (human)
RGD
PMID:19484764
RGD:11252204
NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcg2
ATP binding cassette subfamily G member 2 (JR blood group)
susceptibility
ISO
DNA:SNP: :rs6857600(human)
RGD
PMID:21918980
RGD:11080977
NCBI chrNW_004955474:12,365,903...12,408,715
G
Bcl6
BCL6 transcription repressor
ISO
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region
RGD
PMID:11821949
RGD:1600111
NCBI chrNW_004955420:19,998,960...20,021,200
Ensembl chrNW_004955420:19,998,742...20,022,259
G
Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chrNW_004955437:1,584,890...1,592,486
Ensembl chrNW_004955437:1,584,479...1,592,826
G
Btk
Bruton tyrosine kinase
treatment
ISO
human cell in a mouse model
RGD
PMID:25662332 PMID:28348046
RGD:11040764 RGD:124713554
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
G
Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chrNW_004955413:25,079,627...25,100,039
Ensembl chrNW_004955413:25,086,186...25,100,039
G
Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
G
Csf2
colony stimulating factor 2
treatment
ISO
RGD
PMID:8469286
RGD:10450244
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11042651
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
G
Eaf2
ELL associated factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20564326
NCBI chrNW_004955427:21,171,900...21,204,138
Ensembl chrNW_004955427:21,172,009...21,204,051
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
treatment severity
ISO
RGD MouseDO
PMID:23982173 PMID:29456795
RGD:10755356 RGD:126781726
NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235
G
Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region
RGD
PMID:11821949
RGD:1600111
NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
G
Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24837469
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
G
Kat5
lysine acetyltransferase 5
severity
ISO
RGD
PMID:17728759
RGD:9588481
NCBI chrNW_004955422:19,557,498...19,565,044
Ensembl chrNW_004955422:19,557,498...19,565,036
G
Lgals1
galectin 1
ISO
protein:increased expression:primary tumor (rat)
RGD
PMID:16733672
RGD:2316550
NCBI chrNW_004955413:24,072,086...24,075,452
Ensembl chrNW_004955413:24,072,086...24,075,452
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14633661
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14654083
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
G
Ptpn1
protein tyrosine phosphatase non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chrNW_004955445:7,754,313...7,819,229
Ensembl chrNW_004955445:7,754,319...7,819,275
G
Stat5a
signal transducer and activator of transcription 5A
ISO
RGD
PMID:27018255
RGD:151665817
NCBI chrNW_004955451:16,305,363...16,319,219
Ensembl chrNW_004955451:16,305,363...16,318,534
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
G
Tnfsf9
TNF superfamily member 9
ISO
RGD
PMID:10202049
RGD:2317349
NCBI chrNW_004955495:3,101,965...3,107,552
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836
G
Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chrNW_004955413:11,117,369...11,261,787
Ensembl chrNW_004955413:11,117,223...11,261,606
G
Bcl2l1
BCL2 like 1
severity
ISO
RGD
PMID:18216295
RGD:11531108
NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
G
Bcr
BCR activator of RhoGEF and GTPase
ISO
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chrNW_004955455:7,598,794...7,727,386
Ensembl chrNW_004955455:7,598,794...7,727,386
G
Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chrNW_004955437:1,584,890...1,592,486
Ensembl chrNW_004955437:1,584,479...1,592,826
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
G
Ccnd1
cyclin D1
ISO
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
G
Crlf2
cytokine receptor like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chrNW_004955499:940,250...955,458
G
Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299
G
F13a1
coagulation factor XIII A chain
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chrNW_004955465:7,444,118...7,617,366
Ensembl chrNW_004955465:7,443,166...7,617,436
G
F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
G
Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
G
Flt3
fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004955536:2,944,770...2,955,829
Ensembl chrNW_004955536:2,943,611...2,955,829
G
Ikzf1
IKAROS family zinc finger 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations: :
CTD RGD
PMID:22699455 PMID:24141364
RGD:11075072
NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791
G
Il5
interleukin 5
ISO
RGD
PMID:15368290
RGD:7241068
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
G
Irf4
interferon regulatory factor 4
ISO
RGD
PMID:20585039 PMID:21818355 PMID:25006123
RGD:11526159 RGD:11530020 RGD:11530030
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Irf8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106
G
Isx
intestine specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004955405:42,979,063...43,015,561
G
Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842
G
Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chrNW_004955439:1,523,516...1,560,185
Ensembl chrNW_004955439:1,521,292...1,560,220
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:22120021
RGD:7207416
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
G
Pax5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chrNW_004955419:29,395,631...29,577,272
Ensembl chrNW_004955419:29,395,389...29,570,952
G
Pdgfra
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22447844
RGD:11075097
NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
G
Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
G
Runx1
RUNX family transcription factor 1
onset
ISO
DNA:amplification
RGD
PMID:21822204
RGD:6482828
NCBI chrNW_004955407:34,108,653...34,342,657
Ensembl chrNW_004955407:34,104,035...34,342,928
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
G
Stat5a
signal transducer and activator of transcription 5A
ISO
protein:increased phosphorylation:bone marrow (human)
RGD
PMID:27018255
RGD:151665817
NCBI chrNW_004955451:16,305,363...16,319,219
Ensembl chrNW_004955451:16,305,363...16,318,534
G
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 chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
G
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 chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
G
Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004955471:11,229,795...11,245,255
Ensembl chrNW_004955471:11,229,273...11,245,375
G
Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chrNW_004955403:10,925,155...11,004,229
Ensembl chrNW_004955403:10,924,893...11,004,284
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
G
Tp53
tumor protein p53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
G
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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3)
ClinVar
PMID:25741868
NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312
G
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:25085752 PMID:25741868 PMID:28492532 PMID:33471991
NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
G
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 chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
G
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 chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Blau syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955433:8,788,867...8,845,925
Ensembl chrNW_004955433:8,788,655...8,845,925
G
Nod2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome DNA:snp:cds:p.E383G (human) DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) DNA:snp:cds:p.E383K (human)
OMIM ClinVar 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:33394828 PMID:33692434 PMID:34251956 PMID:34440800 PMID:34573280 More...
RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
G
Sall1
spalt like transcription factor 1
ISO
ClinVar Annotator: match by term: Blau syndrome
ClinVar
PMID:28492532
NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
A4galt
alpha 1,4-galactosyltransferase (P1PK blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11482875
NCBI chrNW_004955413:28,018,363...28,038,359
Ensembl chrNW_004955413:28,018,451...28,019,509
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
G
Bbc3
BCL2 binding component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18573879
NCBI chrNW_004955574:1,167,790...1,174,966
Ensembl chrNW_004955574:1,167,242...1,174,966
G
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 chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
G
Btk
Bruton tyrosine kinase
treatment ameliorates
ISO
mRNA:increased expression:multiple (human) Human cell line in a mouse model
RGD
PMID:28474336 PMID:30546948
RGD:124713565 RGD:124715474
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
G
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 chrNW_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372
G
Cct6b
chaperonin containing TCP1 subunit 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955481:9,624,132...9,694,041
Ensembl chrNW_004955481:9,624,089...9,661,727
G
Cd40
CD40 molecule
treatment
ISO
human cell line in a mouse model
RGD
PMID:9192773
RGD:11520790
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
G
Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
G
Ftcd
formimidoyltransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955407:42,608,249...42,617,167
Ensembl chrNW_004955407:42,607,872...42,617,166
G
Gna13
G protein subunit alpha 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955478:4,510,932...4,552,646
Ensembl chrNW_004955478:4,515,751...4,552,784
G
Id3
inhibitor of DNA binding 3, HLH protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143595 PMID:23143597
NCBI chrNW_004955452:3,537,352...3,538,921
Ensembl chrNW_004955452:3,537,021...3,560,954
G
Mllt11
MLLT11 transcription factor 7 cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31587870
NCBI chrNW_004955588:427,102...438,578
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Burkitt lymphoma | ClinVar Annotator: match by term: MYC-related condition
OMIM ClinVar
PMID:8220424 PMID:25741868 PMID:27993330 PMID:32934698
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
G
Pbx1
PBX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chrNW_004955462:11,777,168...12,083,068
Ensembl chrNW_004955462:11,812,649...12,082,316
G
Pc
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955422:18,421,100...18,536,591
Ensembl chrNW_004955422:18,420,596...18,536,436
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
G
Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
G
Sall3
spalt like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15182131
NCBI chrNW_004955410:25,079,835...25,084,390
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:28552327
RGD:124715478
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
G
Cd79b
CD79b molecule
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
G
Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082G>A (human)
RGD
PMID:22628023
RGD:7364831
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Myd88
MYD88 innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ctcf
CCCTC-binding factor
disease_progression
ISO
mRNA, protein:increased expression:bone marrow, blood (human)
RGD
PMID:24393203
RGD:151356757
NCBI chrNW_004955484:9,041,226...9,092,924
Ensembl chrNW_004955484:9,042,524...9,064,927
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ak3
adenylate kinase 3
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:27078856
RGD:13842476
NCBI chrNW_004955434:8,998,357...9,010,468
Ensembl chrNW_004955434:9,000,158...9,011,250
G
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:increased expression: (human)
RGD
PMID:36595475
RGD:401901275
NCBI chrNW_004955467:4,428,738...4,590,877
Ensembl chrNW_004955467:4,430,087...4,522,611
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum (human)
RGD
PMID:9450802
RGD:11522717
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
G
Cd79b
CD79b molecule
ISO
DNA:mutation:multiple (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) protein:decreased expression:blood, B cell (human) protein:decreased expression:peripheral blood cells (human)
RGD
PMID:10090943 PMID:10329919 PMID:10516749 PMID:10753858
RGD:11531139 RGD:151665125 RGD:151665152 RGD:151665190
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
G
Cd86
CD86 molecule
ISO
DNA:hypermethylation (human)
RGD
PMID:23154584
RGD:11354975
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:21911837
RGD:11354912
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
DNA:missense mutation:exon:p.L116R (human) DNA:SNPs:3' utr:multiple DNA:SNP: :rs872071 (human)
RGD
PMID:20090783 PMID:20123861 PMID:20731705 PMID:21791429 PMID:23897826 PMID:23926303 More...
RGD:11526156 RGD:11526158 RGD:11530021 RGD:11530026 RGD:11530029 RGD:11530031
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:20956327
RGD:11340590
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
G
Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26254371
RGD:11073982
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
G
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:22569400 PMID:23287625
RGD:11533998 RGD:11535006
NCBI chrNW_004955435:17,082,762...17,139,067
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:8118819 PMID:9242456 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11782540 PMID:12826609 PMID:15037740 PMID:16818505 PMID:17015838 PMID:17606709 PMID:18307025 PMID:19101993 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23246812 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24573247 PMID:24702488 PMID:25256166 PMID:25404506 PMID:25741868 PMID:25765855 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:33300245 PMID:36988593 More...
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:serum (human)
RGD
PMID:21266446
RGD:11081158
NCBI chrNW_004955456:14,554,583...14,558,967
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
G
Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853
G
Il5
interleukin 5
severity
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
G
Vtn
vitronectin
ISO
RGD
PMID:12126637
RGD:1580817
NCBI chrNW_004955481:4,765,078...4,768,027
Ensembl chrNW_004955481:4,765,193...4,771,019
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acadvl
acyl-CoA dehydrogenase very long chain
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,684,070...9,689,454
Ensembl chrNW_004955467:9,684,250...9,689,356
G
Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,568,455...9,583,279
Ensembl chrNW_004955467:9,563,933...9,583,273
G
Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
G
Alox15b
arachidonate 15-lipoxygenase type B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009
G
Aloxe3
arachidonate epidermal lipoxygenase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
G
Asgr1
asialoglycoprotein receptor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,728,918...9,732,548
Ensembl chrNW_004955467:9,729,345...9,732,355
G
Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,261,775...9,268,743
Ensembl chrNW_004955467:9,261,775...9,268,743
G
Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932
G
Bacc1
BPTF associated chromatin complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,911,925...9,914,811
Ensembl chrNW_004955467:9,911,660...9,916,106
G
Bcl6b
BCL6B transcription repressor
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,900,392...9,906,610
Ensembl chrNW_004955467:9,900,392...9,906,705
G
Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,766,322...8,769,169
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
G
Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chrNW_004955493:6,540,160...6,544,077
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
G
Cd68
CD68 molecule
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
G
Cd81
CD81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955422:14,155,682...14,175,181
Ensembl chrNW_004955422:14,155,682...14,175,181
G
Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,024,112...9,050,062
Ensembl chrNW_004955467:9,029,265...9,050,718
G
Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,471,962...9,482,370
Ensembl chrNW_004955467:9,471,962...9,482,370
G
Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,652,093...9,654,291
Ensembl chrNW_004955467:9,652,093...9,654,291
G
Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,993,528...9,010,829
Ensembl chrNW_004955467:8,993,952...9,009,928
G
Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564
G
Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165
G
Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,660,088...9,666,878
Ensembl chrNW_004955467:9,660,288...9,666,878
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 chrNW_004955429:19,461,446...19,501,908
Ensembl chrNW_004955429:19,461,528...19,505,321
G
Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872
G
Dnah2
dynein axonemal heavy chain 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,107,089...9,210,941
Ensembl chrNW_004955467:9,107,295...9,210,941
G
Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,675,912...9,683,996
Ensembl chrNW_004955467:9,675,912...9,683,996
G
Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,217,796...9,225,223
Ensembl chrNW_004955467:9,217,796...9,224,940
G
Eif4a1
eukaryotic translation initiation factor 4A1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,344,629...9,351,028
Ensembl chrNW_004955467:9,345,153...9,350,955
G
Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,603,800...9,608,490
G
Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,654,532...9,660,035
Ensembl chrNW_004955467:9,651,219...9,659,502
G
Fbxo39
F-box protein 39
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:12,257,700...12,264,977
Ensembl chrNW_004955467:12,257,700...12,264,977
G
Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,482,467...9,488,992
Ensembl chrNW_004955467:9,482,467...9,488,992
G
Fxr2
FMR1 autosomal homolog 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,312,548...9,332,674
Ensembl chrNW_004955467:9,312,548...9,332,674
G
Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,667,938...9,670,067
Ensembl chrNW_004955467:9,667,941...9,670,067
G
Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,600,829...9,604,148
Ensembl chrNW_004955467:9,600,829...9,603,606
G
Gucy2d
guanylate cyclase 2D, retinal
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684
G
Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,837,895...8,841,062
Ensembl chrNW_004955467:8,837,886...8,841,739
G
Icos
inducible T cell costimulator
ISO
CTD Direct Evidence: marker/mechanism OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
CTD MouseDO
NCBI chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791
G
Il21
interleukin 21
ISO
ClinVar Annotator: match by term: IL21 DEFICIENCY
ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
G
Il21r
interleukin 21 receptor
ISO
DNA:SNPs:exons:
RGD
PMID:18254984
RGD:6892941
NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
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 chrNW_004955467:9,013,279...9,020,716
Ensembl chrNW_004955467:9,013,279...9,020,716
G
Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,564,905...9,567,020
G
Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,085,239...9,106,658
Ensembl chrNW_004955467:9,086,204...9,094,404
G
LOC102029382
cytochrome b5 domain-containing protein 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,077,537...9,081,759
Ensembl chrNW_004955467:9,077,537...9,081,759
G
Manba
mannosidase beta
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chrNW_004955496:5,744,374...5,837,974
Ensembl chrNW_004955496:5,744,250...5,841,293
G
Mbl2
mannose binding lectin 2
ISO
DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human)
RGD
PMID:10652157
RGD:4889436
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
G
Mpdu1
mannose-P-dolichol utilization defect 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,335,488...9,339,888
Ensembl chrNW_004955467:9,335,488...9,339,874
G
Ms4a1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955511:5,252,934...5,263,961
Ensembl chrNW_004955511:5,258,341...5,267,113
G
Naa38
N-alpha-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,082,104...9,083,024
Ensembl chrNW_004955467:9,082,244...9,082,977
G
Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,588,651...9,600,680
Ensembl chrNW_004955467:9,588,651...9,600,680
G
Nfkb1
nuclear factor kappa B subunit 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 More...
NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
G
Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 More...
NCBI chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444
G
Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,504,974...9,520,059
Ensembl chrNW_004955467:9,504,974...9,520,059
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:T cell (human)
RGD
PMID:22697005
RGD:6771226
NCBI chrNW_004955478:7,448,584...7,531,860
Ensembl chrNW_004955478:7,478,492...7,531,188
G
Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,798,436...8,813,369
Ensembl chrNW_004955467:8,797,912...8,813,365
G
Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,671,133...9,675,434
Ensembl chrNW_004955467:9,671,133...9,675,434
G
Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,534,462...9,539,738
Ensembl chrNW_004955467:9,535,261...9,539,738
G
Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,423,540...9,447,530
Ensembl chrNW_004955467:9,421,256...9,447,530
G
Psd
pleckstrin and Sec7 domain containing
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 More...
NCBI chrNW_004955485:7,979,654...7,994,662
Ensembl chrNW_004955485:7,979,654...7,994,662
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 chrNW_004955422:9,867,307...9,869,732
Ensembl chrNW_004955422:9,867,307...9,869,732
G
Rnasek
ribonuclease K
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,914,907...9,917,051
Ensembl chrNW_004955467:9,914,907...9,917,051
G
Sat2
spermidine/spermine N1-acetyltransferase family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,306,210...9,308,668
Ensembl chrNW_004955467:9,305,746...9,308,668
G
Shbg
sex hormone binding globulin
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,301,173...9,305,010
G
Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:12,181,555...12,217,280
Ensembl chrNW_004955467:12,182,766...12,216,842
G
Slc16a11
solute carrier family 16 member 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,891,909...9,894,192
Ensembl chrNW_004955467:9,891,512...9,894,192
G
Slc16a13
solute carrier family 16 member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,894,833...9,900,295
Ensembl chrNW_004955467:9,894,833...9,900,295
G
Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,630,304...9,636,005
Ensembl chrNW_004955467:9,630,304...9,636,005
G
Slc35g6
solute carrier family 35 member G6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,447,756...9,450,653
G
Sox15
SRY-box transcription factor 15
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,333,620...9,335,498
Ensembl chrNW_004955467:9,333,643...9,335,498
G
Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,503,229...9,504,535
Ensembl chrNW_004955467:9,503,229...9,504,535
G
Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,493,708...9,500,466
Ensembl chrNW_004955467:9,498,541...9,500,466
G
Tekt1
tektin 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:12,278,515...12,301,736
Ensembl chrNW_004955467:12,276,702...12,301,630
G
Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,489,867...9,493,275
Ensembl chrNW_004955467:9,489,867...9,493,275
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,777,078...8,779,164
Ensembl chrNW_004955467:8,777,071...8,779,164
G
Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,520,854...9,522,051
Ensembl chrNW_004955467:9,520,854...9,522,045
G
Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,083,623...9,084,834
Ensembl chrNW_004955467:9,083,623...9,084,834
G
Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,562,723...9,564,818
Ensembl chrNW_004955467:9,562,723...9,564,818
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
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
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:33838017 PMID:34093558 PMID:34210994 PMID:34426522 PMID:34441032 PMID:34975878 PMID:35293001 PMID:35686370 PMID:35753512 PMID:37652172 PMID:37678716 More...
NCBI chrNW_004955577:930,612...971,698
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,341,977...27,344,009
G
Tnk1
tyrosine kinase non receptor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,539,693...9,547,419
Ensembl chrNW_004955467:9,539,693...9,547,279
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,010,936...9,012,796
Ensembl chrNW_004955467:9,011,138...9,012,796
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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 chrNW_004955441:13,804,791...13,915,969
Ensembl chrNW_004955441:13,793,216...13,916,423
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Vamp2
vesicle associated membrane protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:8,793,296...8,796,771
Ensembl chrNW_004955467:8,793,296...8,796,771
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Wrap53
WD repeat containing antisense to TP53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,225,506...9,240,756
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Xaf1
XIAP associated factor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:12,240,075...12,257,595
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Ybx2
Y-box binding protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004955467:9,624,506...9,629,904
Ensembl chrNW_004955467:9,624,019...9,629,904
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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 chrNW_004955467:9,452,423...9,470,494
Ensembl chrNW_004955467:9,453,493...9,470,482
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955457:11,451,851...11,562,692
Ensembl chrNW_004955457:11,451,851...11,562,696
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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 chrNW_004955403:22,449...104,577
Ensembl chrNW_004955403:22,449...104,948
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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 chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727
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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 chrNW_004955493:8,356,859...8,518,863
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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 chrNW_004955457:11,853,256...11,947,909
Ensembl chrNW_004955457:11,896,492...11,936,229
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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 chrNW_004955403:322,082...348,591
Ensembl chrNW_004955403:322,555...347,053
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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 chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
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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 chrNW_004955457:12,878,736...12,966,434
Ensembl chrNW_004955457:12,880,959...12,966,410
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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 chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
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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 chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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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 chrNW_004955457:12,107,141...12,180,614
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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 chrNW_004955403:264,969...321,370
Ensembl chrNW_004955403:264,980...321,484
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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 chrNW_004955457:12,729,277...12,733,057
Ensembl chrNW_004955457:12,731,279...12,732,979
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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 chrNW_004955457:11,983,201...12,085,870
Ensembl chrNW_004955457:12,006,306...12,085,799
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Icos
inducible T cell costimulator
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 chrNW_004955457:10,934,390...10,952,318
Ensembl chrNW_004955457:10,934,341...10,952,404
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LOC102029370
cytochrome P450 20A1
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 chrNW_004955457:11,585,851...11,646,764
Ensembl chrNW_004955457:11,584,584...11,647,153
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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 chrNW_004955403:109,353...147,442
Ensembl chrNW_004955403:109,353...147,035
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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 chrNW_004955457:11,671,565...11,839,357
Ensembl chrNW_004955457:11,671,565...11,839,211
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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 chrNW_004955403:477,138...483,122
Ensembl chrNW_004955403:477,144...483,122
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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 chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444
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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 chrNW_004955457:12,481,467...12,511,678
Ensembl chrNW_004955457:12,479,965...12,511,678
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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 chrNW_004955457:11,394,572...11,462,617
G
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 chrNW_004955403:181,120...198,882
Ensembl chrNW_004955403:181,120...198,885
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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 chrNW_004955457:12,538,974...12,565,803
Ensembl chrNW_004955457:12,538,480...12,565,803
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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 chrNW_004955403:148,181...173,350
Ensembl chrNW_004955403:148,183...172,386
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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 chrNW_004955577:930,612...971,698
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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 chrNW_004955403:205,372...261,210
Ensembl chrNW_004955403:206,146...261,326
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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 chrNW_004955457:11,947,816...11,970,066
Ensembl chrNW_004955457:11,947,915...11,971,805
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444
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Psd
pleckstrin and Sec7 domain containing
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
ClinVar
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 More...
NCBI chrNW_004955485:7,979,654...7,994,662
Ensembl chrNW_004955485:7,979,654...7,994,662
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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 chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il21
interleukin 21
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 11
OMIM ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chrNW_004955428:18,057,096...18,065,492
Ensembl chrNW_004955428:18,057,096...18,065,492
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885
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Nfkbid
NFKB inhibitor delta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar
NCBI chrNW_004955468:2,680,934...2,688,797
Ensembl chrNW_004955468:2,680,806...2,689,155
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Arid4b
AT-rich interaction domain 4B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,593,335...4,730,073
Ensembl chrNW_004955492:4,593,335...4,730,073
G
B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531
G
Ggps1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,582,998...4,593,194
Ensembl chrNW_004955492:4,583,633...4,589,144
G
Gng4
G protein subunit gamma 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,380,198...4,432,551
Ensembl chrNW_004955492:4,406,154...4,432,600
G
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 chrNW_004955492:4,889,878...4,895,508
Ensembl chrNW_004955492:4,889,878...4,894,325
G
Kcnk1
potassium two pore domain channel subfamily K member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:5,805,170...5,846,402
Ensembl chrNW_004955492:5,805,170...5,846,402
G
LOC102028200
cytochrome c oxidase assembly factor 6 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:5,316,594...5,324,913
G
Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,161,976...4,371,637
Ensembl chrNW_004955492:4,209,749...4,369,762
G
Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,014,912...4,096,659
Ensembl chrNW_004955492:4,014,912...4,096,829
G
Rbm34
RNA binding motif protein 34
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,732,249...4,754,433
Ensembl chrNW_004955492:4,733,800...4,754,069
G
Slc35f3
solute carrier family 35 member F3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:5,349,445...5,661,186
Ensembl chrNW_004955492:5,348,949...5,441,865
G
Tarbp1
TAR (HIV-1) RNA binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:5,252,949...5,313,008
Ensembl chrNW_004955492:5,252,999...5,312,777
G
Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697
G
Tomm20
translocase of outer mitochondrial membrane 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004955492:4,759,438...4,771,060
Ensembl chrNW_004955492:4,759,611...4,769,847
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ruvbl1
RuvB like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
ClinVar
PMID:28782633
NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713
G
Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
OMIM ClinVar
PMID:25741868 PMID:28782633
NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Decreased circulating antibody concentration
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aldh3a2
aldehyde dehydrogenase 3 family member A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:141,592...162,376
Ensembl chrNW_004955467:140,760...162,742
G
Alkbh5
alkB homolog 5, RNA demethylase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,104,445...11,128,980
Ensembl chrNW_004955478:11,105,920...11,128,222
G
Atpaf2
ATP synthase mitochondrial F1 complex assembly factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,249,073...11,264,249
Ensembl chrNW_004955478:11,248,781...11,267,158
G
B9d1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116
G
Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955493:6,540,160...6,544,077
G
Cops3
COP9 signalosome subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:639,616...664,390
Ensembl chrNW_004955577:638,749...664,390
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 chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564
G
Drg2
developmentally regulated GTP binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,193,245...11,210,917
Ensembl chrNW_004955478:11,193,245...11,210,914
G
Epn2
epsin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:419,342...505,909
Ensembl chrNW_004955467:419,289...506,092
G
Fam83g
family with sequence similarity 83 member G
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:594,921...623,661
Ensembl chrNW_004955467:595,490...623,566
G
Flcn
folliculin
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:672,774...694,140
Ensembl chrNW_004955577:672,410...694,140
G
Flii
FLII actin remodeling protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,061,728...11,075,370
Ensembl chrNW_004955478:11,062,707...11,075,117
G
Gid4
GID complex subunit 4 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,223,083...11,242,986
Ensembl chrNW_004955478:11,226,449...11,243,935
G
Grap
GRB2 related adaptor protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:559,411...581,098
Ensembl chrNW_004955467:559,397...581,098
G
Llgl1
LLGL scribble cell polarity complex component 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,075,399...11,089,818
Ensembl chrNW_004955478:11,075,399...11,089,839
G
Mapk7
mitogen-activated protein kinase 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:381,801...387,078
Ensembl chrNW_004955467:378,156...386,532
G
Med9
mediator complex subunit 9
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:455,879...470,126
Ensembl chrNW_004955577:454,715...470,152
G
Mfap4
microfibril associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:378,389...381,593
Ensembl chrNW_004955467:377,887...381,593
G
Mief2
mitochondrial elongation factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,056,489...11,063,142
Ensembl chrNW_004955478:11,057,462...11,061,852
G
Mprip
myosin phosphatase Rho interacting protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:705,435...838,948
Ensembl chrNW_004955577:705,435...838,948
G
Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378
G
Nt5m
5',3'-nucleotidase, mitochondrial
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:582,206...608,614
G
Pemt
phosphatidylethanolamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:365,031...443,138
Ensembl chrNW_004955577:367,288...443,138
G
Pld6
phospholipase D family member 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:698,741...702,977
G
Prpsap2
phosphoribosyl pyrophosphate synthetase associated protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:676,845...722,175
Ensembl chrNW_004955467:676,195...722,233
G
Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139
G
Rasd1
ras related dexamethasone induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:452,993...454,659
Ensembl chrNW_004955577:452,993...454,713
G
Rnf112
ring finger protein 112
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:349,703...355,922
Ensembl chrNW_004955467:349,256...355,922
G
Shmt1
serine hydroxymethyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
G
Slc5a10
solute carrier family 5 member 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955467:581,120...654,441
Ensembl chrNW_004955467:581,129...654,639
G
Smcr8
SMCR8-C9orf72 complex subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,002,174...11,015,123
Ensembl chrNW_004955478:11,002,174...11,015,123
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046
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:33838017 PMID:33859323 PMID:34093558 PMID:34210994 PMID:34426522 PMID:34441032 PMID:34573280 PMID:34787773 PMID:34975878 PMID:35293001 PMID:35686370 PMID:35753512 PMID:37652172 PMID:37678716 More...
NCBI chrNW_004955577:930,612...971,698
G
Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955413:27,341,977...27,344,009
G
Tom1l2
target of myb1 like 2 membrane trafficking protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955577:93,877...153,381
Ensembl chrNW_004955577:93,480...153,437
G
Top3a
DNA topoisomerase III alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004955478:11,015,378...11,045,717
Ensembl chrNW_004955478:11,015,378...11,045,717
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: CD19-related condition | 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 chrNW_004955493:6,540,160...6,544,077
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
A4galt
alpha 1,4-galactosyltransferase (P1PK blood group)
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:28,018,363...28,038,359
Ensembl chrNW_004955413:28,018,451...28,019,509
G
Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227
G
Ccdc134
coiled-coil domain containing 134
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,248,879...27,265,635
Ensembl chrNW_004955413:27,249,272...27,265,635
G
Cenpm
centromere protein M
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,349,283...27,360,052
Ensembl chrNW_004955413:27,349,283...27,360,052
G
Chadl
chondroadherin like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:26,846,714...26,862,082
Ensembl chrNW_004955413:26,851,420...26,862,081
G
Csdc2
cold shock domain containing C2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,079,280...27,090,082
Ensembl chrNW_004955413:27,079,280...27,090,082
G
Desi1
desumoylating isopeptidase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,115,130...27,135,625
Ensembl chrNW_004955413:27,112,974...27,135,625
G
Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
G
L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:26,831,065...26,847,638
Ensembl chrNW_004955413:26,831,066...26,851,859
G
LOC102012303
NADH-cytochrome b5 reductase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,971,140...27,979,905
Ensembl chrNW_004955413:27,969,949...27,979,909
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 chrNW_004955413:27,188,013...27,247,608
G
Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273
G
Ndufa6
NADH:ubiquinone oxidoreductase subunit A6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,485,678...27,491,757
Ensembl chrNW_004955413:27,485,678...27,491,757
G
Nfam1
NFAT activating protein with ITAM motif 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,865,672...27,893,793
Ensembl chrNW_004955413:27,866,271...27,893,844
G
Pheta2
PH domain containing endocytic trafficking adaptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,475,658...27,480,879
Ensembl chrNW_004955413:27,475,658...27,480,879
G
Phf5a
PHD finger protein 5A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,018,730...27,026,937
G
Pmm1
phosphomannomutase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,090,291...27,097,088
Ensembl chrNW_004955413:27,090,291...27,097,088
G
Poldip3
DNA polymerase delta interacting protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,944,109...27,968,156
Ensembl chrNW_004955413:27,943,520...27,968,156
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,065,785...27,072,432
Ensembl chrNW_004955413:27,065,785...27,072,432
G
Rangap1
Ran GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:26,869,487...26,894,192
Ensembl chrNW_004955413:26,867,812...26,890,284
G
Rbx1
ring-box 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:26,579,759...26,592,980
Ensembl chrNW_004955413:26,579,759...26,592,980
G
Rrp7a
ribosomal RNA processing 7 homolog A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,936,427...27,941,311
Ensembl chrNW_004955413:27,933,775...27,941,334
G
Septin3
septin 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,381,103...27,400,899
G
Shisa8
shisa family member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,328,632...27,330,304
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 chrNW_004955413:27,480,938...27,485,729
Ensembl chrNW_004955413:27,480,938...27,485,729
G
Snu13
small nuclear ribonucleoprotein 13
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:27,160,985...27,172,648
Ensembl chrNW_004955413:27,159,816...27,172,696
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 chrNW_004955413:27,271,717...27,326,655
Ensembl chrNW_004955413:27,271,953...27,326,759
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Tcf20
transcription factor 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:27,677,377...27,726,990
Ensembl chrNW_004955413:27,674,787...27,745,528
G
Tef
TEF transcription factor, PAR bZIP family member
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:26,956,285...26,978,734
Ensembl chrNW_004955413:26,956,285...26,979,045
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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 chrNW_004955413:27,341,977...27,344,009
G
Tob2
transducer of ERBB2, 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004955413:26,999,955...27,010,091
Ensembl chrNW_004955413:26,999,955...27,010,156
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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 chrNW_004955413:27,402,614...27,442,106
Ensembl chrNW_004955413:27,402,545...27,436,906
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Xpnpep3
X-prolyl aminopeptidase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004955413:26,507,860...26,564,105
Ensembl chrNW_004955413:26,507,860...26,566,826
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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 chrNW_004955413:27,135,785...27,158,344
Ensembl chrNW_004955413:27,135,805...27,159,750
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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 chrNW_004955413:26,907,883...26,951,352
Ensembl chrNW_004955413:26,925,943...26,951,040
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ms4a1
membrane spanning 4-domains A1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 | ClinVar Annotator: match by term: MS4A1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955511:5,252,934...5,263,961
Ensembl chrNW_004955511:5,258,341...5,267,113
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd81
CD81 molecule
ISO
ClinVar Annotator: match by term: CD81-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 6
OMIM ClinVar
PMID:20237408 PMID:25741868 PMID:28492532
NCBI chrNW_004955422:14,155,682...14,175,181
Ensembl chrNW_004955422:14,155,682...14,175,181
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
C4bpa
complement component 4 binding protein alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,613,659...42,641,918
Ensembl chrNW_004955406:42,613,607...42,641,670
G
C4bpb
complement component 4 binding protein beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,601,164...42,608,912
G
Cd34
CD34 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:43,116,688...43,130,405
Ensembl chrNW_004955406:43,117,816...43,130,463
G
Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:43,002,817...43,034,555
G
Cd55
CD55 molecule (Cromer blood group)
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,773,368...42,796,205
G
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:24029428 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26325596 PMID:28492532 PMID:28499783 PMID:29148534 PMID:29867916 PMID:30075290 PMID:33046446 PMID:34426522 More...
NCBI chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564
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Fcamr
Fc alpha and mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,484,811...42,518,714
Ensembl chrNW_004955406:42,484,614...42,496,672
G
Fcmr
Fc mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,438,173...42,452,339
Ensembl chrNW_004955406:42,438,783...42,452,163
G
Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,376,102...42,384,902
Ensembl chrNW_004955406:42,376,104...42,384,902
G
Il20
interleukin 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,398,510...42,401,561
Ensembl chrNW_004955406:42,398,782...42,401,490
G
Il24
interleukin 24
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,431,845...42,437,392
Ensembl chrNW_004955406:42,432,795...42,437,016
G
LOC102027268
chromosome unknown open reading frame, human C1orf116
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,537,925...42,573,168
Ensembl chrNW_004955406:42,525,252...42,558,003
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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 chrNW_004955406:42,573,210...42,601,994
Ensembl chrNW_004955406:42,574,450...42,598,109
G
Pigr
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955406:42,456,450...42,474,489
Ensembl chrNW_004955406:42,453,080...42,474,694
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Plxna2
plexin A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004955489:3,914,137...4,116,780
Ensembl chrNW_004955489:3,914,633...4,116,825
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955471:5,052,535...5,649,696
Ensembl chrNW_004955471:5,053,487...5,649,476
G
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 chrNW_004955471:5,296,292...5,298,432
Ensembl chrNW_004955471:5,297,259...5,298,338
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcb1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21325069
NCBI chrNW_004955432:4,911,774...5,085,349
G
Abcg2
ATP binding cassette subfamily G member 2 (JR blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chrNW_004955474:12,365,903...12,408,715
G
Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chrNW_004955469:11,049,373...11,751,235
Ensembl chrNW_004955469:11,047,048...11,548,233
G
B2m
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7688627
NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
G
Bcas2
BCAS2 pre-mRNA processing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004955435:17,830,532...17,857,360
Ensembl chrNW_004955435:17,846,466...17,857,356
G
Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Bcl6
BCL6 transcription repressor
disease_progression
ISO
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region
RGD
PMID:11821949 PMID:15701085
RGD:11530023 RGD:1600111
NCBI chrNW_004955420:19,998,960...20,021,200
Ensembl chrNW_004955420:19,998,742...20,022,259
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chrNW_004955494:2,567,238...2,712,708
G
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 chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
G
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 chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
G
Card11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons:multiple (human)
CTD RGD
PMID:18323416 PMID:25049379 PMID:26192916
RGD:11100036
NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
G
Ccdc86
coiled-coil domain containing 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23828858
NCBI chrNW_004955511:5,533,895...5,535,984
G
Cd22
CD22 molecule
treatment
ISO
RGD
PMID:25708834
RGD:151665133
NCBI chrNW_004955468:4,609,601...4,622,601
Ensembl chrNW_004955468:4,612,044...4,625,882
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Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
G
Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25049379
NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605
G
Cd79b
CD79b molecule
treatment severity
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma DNA:missense mutation:multiple, exon 5 (human)
RGD ClinVar
PMID:11160144 PMID:25708834 PMID:31402495 PMID:31609782
RGD:151665133 RGD:151665203
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
G
Cdk1
cyclin dependent kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chrNW_004955425:14,210,681...14,226,474
Ensembl chrNW_004955425:14,210,680...14,226,474
G
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 chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
G
Cltc
clathrin heavy chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chrNW_004955451:3,380,304...3,445,973
Ensembl chrNW_004955451:3,380,304...3,445,973
G
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 chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
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Dicer1
dicer 1, ribonuclease III
disease_progression
ISO
RGD
PMID:25195038
RGD:149735347
NCBI chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797
G
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 chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
G
Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:35053500
NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20081860 PMID:28438623
RGD:126779596
NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Foxo1
forkhead box O1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:26314988 PMID:29721381 PMID:35079069
NCBI chrNW_004955431:5,797,359...5,890,758
G
Gli1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chrNW_004955458:5,181,761...5,193,500
Ensembl chrNW_004955458:5,185,225...5,193,196
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:SNP: :(rs1695)(human)
RGD
PMID:19338043
RGD:8547939
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
G
Icam1
intercellular adhesion molecule 1
disease_progression
ISO
proteion:increased expression:serum:
RGD
PMID:12598355
RGD:11354982
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
G
Il21r
interleukin 21 receptor
ISO
diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region
RGD
PMID:11821949
RGD:1600111
NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
G
Immp2l
inner mitochondrial membrane peptidase subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004955410:14,567,787...15,420,025
Ensembl chrNW_004955410:14,567,951...15,354,190
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
RGD
PMID:15701085
RGD:11530023
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804550
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
G
Malt1
MALT1 paracaspase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004955402:42,919,480...42,968,873
Ensembl chrNW_004955402:42,911,649...42,972,429
G
Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:20919850
RGD:6483541
NCBI chrNW_004955477:5,847,288...5,875,970
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:17712558
RGD:6893517
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
G
Myd88
MYD88 innate immune signal transduction adaptor
severity
ISO
DNA:missense mutation:L265P (human) ClinVar Annotator: match by term: Diffuse large B cell lymphoma
RGD ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:28492532 PMID:31609782 More...
RGD:151665203
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
G
Nbn
nibrin
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9590180 PMID:16415040 PMID:28492532
NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004955555:1,959,702...1,985,679
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21390130 PMID:22158541 PMID:23292937
NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
G
Nfkbia
NFKB inhibitor alpha
no_association
ISO
SNA:polymorphism(s)
RGD
PMID:15198731
RGD:2298905
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
G
Nom1
nucleolar protein with MIF4G domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chrNW_004955579:27,206...42,137
Ensembl chrNW_004955579:13,844...42,191
G
Pdpk1
3-phosphoinositide dependent protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004955442:14,685,089...14,772,870
Ensembl chrNW_004955442:14,685,153...14,772,870
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
G
Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004955501:251,829...381,255
Ensembl chrNW_004955501:259,645...379,909
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422
G
Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chrNW_004955460:13,762,854...13,791,462
G
Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:22321048
RGD:150530470
NCBI chrNW_004955411:31,434,503...31,455,995
Ensembl chrNW_004955411:31,434,503...31,456,056
G
Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004955431:23,640,775...23,651,738
Ensembl chrNW_004955431:23,638,765...23,652,191
G
Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004955509:4,111,501...4,132,529
Ensembl chrNW_004955509:4,116,379...4,132,529
G
Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31123343
NCBI chrNW_004955409:37,369,507...37,378,034
Ensembl chrNW_004955409:37,369,234...37,378,093
G
Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:10468583 PMID:10698513 PMID:10866302 PMID:10866658 PMID:11035045 PMID:12297295 PMID:17526800 PMID:17526801 PMID:18986487 PMID:19265751 PMID:20533527 PMID:21194675 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 chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
G
Rangap1
Ran GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27150054
NCBI chrNW_004955413:26,869,487...26,894,192
Ensembl chrNW_004955413:26,867,812...26,890,284
G
Rps6kb1
ribosomal protein S6 kinase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chrNW_004955451:3,181,085...3,225,610
G
Sec31a
SEC31 homolog A, COPII coat complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chrNW_004955433:6,830,732...6,891,259
Ensembl chrNW_004955433:6,830,540...6,891,258
G
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 chrNW_004955455:4,579,153...4,601,942
Ensembl chrNW_004955455:4,577,329...4,602,141
G
Skp2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18850583
NCBI chrNW_004955426:20,972,663...20,999,769
Ensembl chrNW_004955426:20,972,663...20,999,769
G
Smurf2
SMAD specific E3 ubiquitin protein ligase 2
ISO
MouseDO
NCBI chrNW_004955478:7,205,266...7,336,390
Ensembl chrNW_004955478:7,270,055...7,336,390
G
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 chrNW_004955442:7,321,337...7,323,109
Ensembl chrNW_004955442:7,321,337...7,323,109
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
G
Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004955480:257,716...263,149
G
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:36228738 PMID:36240433 PMID:36630607 More...
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
G
Syk
spleen associated tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33782605
NCBI chrNW_004955515:1,328,793...1,400,206
Ensembl chrNW_004955515:1,328,630...1,380,581
G
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 chrNW_004955420:6,546,529...6,705,481
Ensembl chrNW_004955420:6,546,529...6,705,487
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
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: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:33300245 PMID:36988593 More...
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
G
Txnip
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004955568:103,801...107,791
Ensembl chrNW_004955568:103,762...107,785
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
DNA:mutations:multiple (human)
RGD
PMID:27600764
RGD:150429643
NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: MALT lymphoma
OMIM ClinVar
PMID:9989495 PMID:10380920 PMID:10408400
NCBI chrNW_004955423:8,710,231...8,720,530
Ensembl chrNW_004955423:8,709,890...8,722,050
G
Birc3
baculoviral IAP repeat containing 3
treatment
ISO
DNA:gene fusion: (human)
RGD
PMID:21465313
RGD:153305955
NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
G
Cxcr4
C-X-C motif chemokine receptor 4
ISO
protein:increased expression: mucosa-associated lymphoid tissue (human)
RGD
PMID:27544389
RGD:152023632
NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Atp6ap1
ATPase H+ transporting accessory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734
G
Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chrNW_004955403:43,860,811...43,886,398
Ensembl chrNW_004955403:43,860,728...43,886,732
G
Bcl10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: Follicular lymphoma
ClinVar
PMID:9989495
NCBI chrNW_004955423:8,710,231...8,720,530
Ensembl chrNW_004955423:8,709,890...8,722,050
G
Bcl2
BCL2 apoptosis regulator
susceptibility
ISO
DNA:translocation: ;t(14;18)(q32;q21) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:3287162 PMID:12855623 PMID:16671111
RGD:1599473 RGD:734639
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
G
Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
G
Cd40lg
CD40 ligand
ISO
human gene in a mouse model
RGD
PMID:25582824
RGD:11344981
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
G
Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
G
Ebf1
EBF transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004955408:12,735,893...13,121,700
Ensembl chrNW_004955408:12,739,083...13,121,699
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235
G
Irf4
interferon regulatory factor 4
severity
ISO
RGD
PMID:17296585
RGD:11530032
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Kdsr
3-ketodihydrosphingosine reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8417785 PMID:25526675
RGD:1598985
NCBI chrNW_004955402:47,092,779...47,130,131
Ensembl chrNW_004955402:47,092,779...47,130,132
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
G
Rarres1
retinoic acid receptor responder 1
ISO
OMIM:151430
MouseDO
NCBI chrNW_004955448:9,437,365...9,466,565
Ensembl chrNW_004955448:9,437,859...9,450,380
G
Rragc
Ras related GTP binding C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chrNW_004955452:16,469,426...16,486,336
Ensembl chrNW_004955452:16,466,453...16,486,336
G
Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469
G
Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
RGD
PMID:26722499
RGD:11553660
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:24372369
RGD:10402806
NCBI chrNW_004955408:4,058,052...4,065,999
G
Mif
macrophage migration inhibitory factor
ISO
associated with Kidney Diseases
RGD
PMID:11126199
RGD:1642009
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
G
Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20679225
RGD:5508736
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tlr9
toll like receptor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19797157
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20979472 PMID:21030459 PMID:22920921
NCBI chrNW_004955469:11,049,373...11,751,235
Ensembl chrNW_004955469:11,047,048...11,548,233
G
Ranbp2
RAN binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21030459
NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8843970
RGD:11353776
NCBI chrNW_004955532:1,298,336...1,298,830
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
RGD
PMID:9613675
RGD:11522762
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
Map2k1
mitogen-activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241536
NCBI chrNW_004955450:9,181,851...9,205,277
Ensembl chrNW_004955450:9,181,851...9,239,648
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
G
Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
G
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 chrNW_004955467:9,340,490...9,343,912
Ensembl chrNW_004955467:9,341,364...9,343,836
G
Cflar
CASP8 and FADD like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659339
NCBI chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17562247
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:28492532 PMID:32934698
NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
G
Fgfr4
fibroblast growth factor receptor 4
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:32934698
NCBI chrNW_004955408:29,370,480...29,383,531
Ensembl chrNW_004955408:29,370,468...29,383,971
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chrNW_004955421:24,448,446...24,477,885
Ensembl chrNW_004955421:24,457,496...24,478,744
G
Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD RGD
PMID:7621881 PMID:7686390 PMID:8656679
RGD:11520780
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:21466366
RGD:11049168
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Il6
interleukin 6
treatment
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:21466366
RGD:11049165 RGD:11049168
NCBI chrNW_004955410:25,079,835...25,084,390
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chrNW_004955464:1,107,598...1,110,326
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chrNW_004955415:31,876,508...31,878,289
Ensembl chrNW_004955415:31,876,793...31,877,836
G
Klhdc8b
kelch domain containing 8B
susceptibility
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma | ClinVar Annotator: match by term: KLHDC8B-related condition
OMIM ClinVar
PMID:19706467 PMID:28492532
NCBI chrNW_004955532:1,158,888...1,162,710
Ensembl chrNW_004955532:1,158,162...1,163,305
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:20147967 PMID:20570890 PMID:25251940 PMID:25741868 PMID:26110767 PMID:26970110 PMID:28492532 PMID:30289595 PMID:30891959 PMID:32934698 More...
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
G
Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7545087
NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:14559814 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 chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
G
Mthfd2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24688052
NCBI chrNW_004955424:11,538,344...11,550,119
Ensembl chrNW_004955424:11,539,399...11,550,220
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:32934698
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
G
Nfkbia
NFKB inhibitor alpha
ISO
DNA:deletion:C-terminally truncated protein CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10340377 PMID:10556199 PMID:19223558
RGD:2298893 RGD:2298894
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
G
Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
mRNA:increased expression:lymphoid tissue (human)
RGD
PMID:26044287
RGD:11060455
NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537
G
Ptpn1
protein tyrosine phosphatase non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chrNW_004955445:7,754,313...7,819,229
Ensembl chrNW_004955445:7,754,319...7,819,275
G
Rel
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chrNW_004955424:22,909,035...22,939,651
Ensembl chrNW_004955424:22,911,541...22,939,651
G
Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:9746758
RGD:9743928
NCBI chrNW_004955469:2,762,696...2,773,697
G
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 chrNW_004955486:1,839,642...1,910,080
G
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 chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737 PMID:24584070
NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Sh3kbp1
SH3 domain containing kinase binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 61 | ClinVar Annotator: match by term: SH3KBP1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29636373
NCBI chrNW_004955509:6,157...344,930
Ensembl chrNW_004955509:4,960...345,012
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:monocyte, neutrophil, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Faslg
Fas ligand
ISO
protein:increased expression:lymphocyte, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
G
Foxp3
forkhead box P3
disease_progression
ISO
RGD
PMID:23628056
RGD:38501103
NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
G
Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33571934
RGD:126790542
NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
G
Sod2
superoxide dismutase 2
ISO
RGD
PMID:7964476
RGD:11035288
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Armcx1
armadillo repeat containing X-linked 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,633,088...7,637,415
Ensembl chrNW_004955503:7,634,140...7,637,403
G
Armcx2
armadillo repeat containing X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,756,032...7,760,573
Ensembl chrNW_004955503:7,756,429...7,758,366
G
Armcx3
armadillo repeat containing X-linked 3
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,705,821...7,709,169
Ensembl chrNW_004955503:7,705,821...7,709,142
G
Armcx4
armadillo repeat containing X-linked 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,603,395...7,613,711
Ensembl chrNW_004955503:7,606,353...7,613,363
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
OMIM ClinVar
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:24869597 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:32492159 PMID:32499645 PMID:32552675 PMID:32581362 PMID:32888943 PMID:33013854 PMID:33042921 PMID:33154951 PMID:33224144 PMID:33225392 PMID:33226337 PMID:33377626 PMID:33584693 PMID:33815962 PMID:34029777 PMID:34177947 PMID:34182127 PMID:34249912 PMID:34262886 PMID:34975878 PMID:35196427 PMID:35382780 PMID:35482138 PMID:36029036 PMID:36790564 More...
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
G
Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,237,080...7,341,702
G
Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:6,949,901...6,971,281
Ensembl chrNW_004955503:6,949,823...6,975,030
G
Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,383,567...7,423,489
Ensembl chrNW_004955503:7,383,567...7,426,124
G
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 chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
G
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 chrNW_004955503:7,535,987...7,541,622
G
Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618
G
Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
G
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 chrNW_004955503:7,520,530...7,523,593
G
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 chrNW_004955503:6,795,793...6,817,779
Ensembl chrNW_004955503:6,795,734...6,821,119
G
Sytl4
synaptotagmin like 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:6,821,263...6,899,983
Ensembl chrNW_004955503:6,821,236...6,899,983
G
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 chrNW_004955503:7,429,876...7,451,051
G
Timm8a
translocase of inner mitochondrial membrane 8A
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 chrNW_004955503:7,480,075...7,483,218
Ensembl chrNW_004955503:7,480,075...7,483,218
G
Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,224,847...7,234,210
Ensembl chrNW_004955503:7,224,814...7,235,527
G
Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:6,732,791...6,750,693
Ensembl chrNW_004955503:6,732,733...6,750,717
G
Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:6,782,264...6,788,533
Ensembl chrNW_004955503:6,779,377...6,789,142
G
Xkrx
XK related X-linked
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004955503:7,037,200...7,066,070
Ensembl chrNW_004955503:7,037,200...7,066,070
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nfatc2
nuclear factor of activated T cells 2
ISO
OMIM
NCBI chrNW_004955445:7,035,876...7,153,199
Ensembl chrNW_004955445:7,035,876...7,153,237
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acss2
acyl-CoA synthetase short chain family member 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004955422:26,450,899...26,500,336
Ensembl chrNW_004955422:26,451,598...26,500,546
G
Cpt1a
carnitine palmitoyltransferase 1A
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004955422:17,105,887...17,159,696
Ensembl chrNW_004955422:17,109,256...17,159,838
G
Esr1
estrogen receptor 1
ISO
RGD
PMID:18285421
RGD:4892300
NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
G
Gls
glutaminase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004955403:8,195,241...8,261,402
Ensembl chrNW_004955403:8,195,255...8,261,402
G
Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chrNW_004955420:14,565,921...14,568,447
Ensembl chrNW_004955420:14,564,283...14,568,447
G
Jag2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chrNW_004955538:3,421,685...3,433,829
Ensembl chrNW_004955538:3,421,685...3,433,842
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum, plasma
RGD
PMID:18760908
RGD:5129697
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
G
Nos3
nitric oxide synthase 3
ISO
protein:increased expression:lung
RGD
PMID:11306434
RGD:4892080
NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
G
Nthl1
nth like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955442:15,210,799...15,223,272
Ensembl chrNW_004955442:15,217,019...15,223,272
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar
PMID:25741868
NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
G
Pkm
pyruvate kinase M1/2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32078667
NCBI chrNW_004955450:4,907,962...4,935,179
Ensembl chrNW_004955450:4,907,788...4,936,199
G
Rictor
RPTOR independent companion of MTOR complex 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004955426:23,468,112...23,582,587
Ensembl chrNW_004955426:23,468,112...23,582,587
G
Slc16a1
solute carrier family 16 member 1
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004955435:16,334,382...16,361,737
Ensembl chrNW_004955435:16,334,793...16,342,552
G
Srf
serum response factor
ISO
RGD
PMID:12654640
RGD:1580753
NCBI chrNW_004955437:9,100,546...9,109,305
Ensembl chrNW_004955437:9,098,968...9,107,057
G
Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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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
OMIM ClinVar
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:32211034 PMID:32313033 PMID:32939031 PMID:33071758 PMID:34573383 PMID:36232477 More...
NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
G
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
OMIM ClinVar
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:15121797 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:31525612 PMID:31586081 PMID:31591157 PMID:31785789 PMID:31875159 PMID:32005694 PMID:32211034 PMID:32313033 PMID:32410215 PMID:32461654 PMID:32461669 PMID:32555378 PMID:32860008 PMID:32917966 PMID:33679864 PMID:34070849 PMID:34252879 PMID:34403804 PMID:34754157 PMID:34849272 PMID:35441217 PMID:35712104 PMID:35918040 PMID:36117189 PMID:36229297 PMID:36232477 PMID:37228977 More...
NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
G
Vegfd
vascular endothelial growth factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chrNW_004955519:2,813,475...2,845,856
Ensembl chrNW_004955519:2,813,438...2,845,915
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Foxo1
forkhead box O1
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chrNW_004955431:5,797,359...5,890,758
G
Foxo3
forkhead box O3
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829
G
Foxo4
forkhead box O4
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chrNW_004955475:10,666,024...10,673,717
Ensembl chrNW_004955475:10,665,987...10,674,110
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl2l1
BCL2 like 1
ISO
RGD
PMID:21998213
RGD:11353857
NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
DNA:hypermethylation:promoter:
RGD
PMID:10602427
RGD:11252194
NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
G
Clptm1l
CLPTM1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chrNW_004955504:677,824...695,660
Ensembl chrNW_004955504:677,772...695,660
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Eng
endoglin
disease_progression
ISO
RGD
PMID:25030442
RGD:11041170
NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chrNW_004955413:8,698,412...8,912,011
Ensembl chrNW_004955413:8,698,415...8,909,299
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Fcgr2b
Fc fragment of IgG receptor IIb
treatment
ISO
RGD
PMID:20705761
RGD:11344969
NCBI chrNW_004955462:14,639,396...14,653,801
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:8569275
RGD:11059504
NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:cds:p.I105V(human)
RGD
PMID:12010828
RGD:10755404
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
G
Ipcef1
interaction protein for cytohesin exchange factors 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chrNW_004955439:7,666,246...7,836,481
Ensembl chrNW_004955439:7,756,126...7,836,542
G
Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17463288
NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527
G
Lyl1
LYL1 basic helix-loop-helix family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3162254
NCBI chrNW_004955415:32,121,808...32,124,730
Ensembl chrNW_004955415:32,121,808...32,124,730
G
Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770046
NCBI chrNW_004955448:18,259,847...18,542,085
Ensembl chrNW_004955448:18,259,083...18,439,646
G
Pot1
protection of telomeres 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502782 PMID:24292274
NCBI chrNW_004955479:6,140,599...6,230,512
Ensembl chrNW_004955479:6,140,501...6,209,031
G
Runx1
RUNX family transcription factor 1
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chrNW_004955407:34,108,653...34,342,657
Ensembl chrNW_004955407:34,104,035...34,342,928
G
Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
MouseDO
NCBI chrNW_004955464:11,304,611...11,317,420
Ensembl chrNW_004955464:11,310,628...11,315,924
G
Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Atm
ATM serine/threonine kinase
ISO
DNA:missense mutation:cds: DNA:deletion:exon:
RGD
PMID:27895165 PMID:28007901
RGD:12879393 RGD:12879399
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
G
Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17941976
NCBI chrNW_004955438:20,562,345...20,637,662
Ensembl chrNW_004955438:20,564,449...20,637,103
G
Ccnb1
cyclin B1
ISO
RGD
PMID:19666607
RGD:2315935
NCBI chrNW_004955446:140,661...149,500
Ensembl chrNW_004955446:140,093...149,500
G
Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28736328
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9488045
NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
G
Chd4
chromodomain helicase DNA binding protein 4
ISO
DNA:missense mutation:CDS p.D140E (rs7479004) (human)
RGD
PMID:25407497
RGD:153323305
NCBI chrNW_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225
G
Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665
G
Ercc6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
ISO
RGD
PMID:11238917
RGD:11567233
NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
G
Hmga1
high mobility group AT-hook 1
ISO
MouseDO
NCBI chrNW_004955437:2,478,414...2,486,809
Ensembl chrNW_004955437:2,478,414...2,486,809
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11980663
NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791
G
Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
G
Mad1l1
mitotic arrest deficient 1 like 1
ISO
RGD
PMID:11423979
RGD:1599865
NCBI chrNW_004955460:9,340,728...9,672,478
Ensembl chrNW_004955460:9,340,681...9,672,134
G
Malt1
MALT1 paracaspase
ISO
RGD
PMID:10523859
RGD:1599913
NCBI chrNW_004955402:42,919,480...42,968,873
Ensembl chrNW_004955402:42,911,649...42,972,429
G
Mlh1
mutL homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15700306
NCBI chrNW_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
G
Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18798262
NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
G
Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:25741868
NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17441966
NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
G
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 chrNW_004955412:18,471,621...18,494,082
Ensembl chrNW_004955412:18,474,199...18,494,082
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22800774
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
G
Ppp1r9b
protein phosphatase 1 regulatory subunit 9B
susceptibility
ISO
RGD
PMID:21670604
RGD:10043812
NCBI chrNW_004955451:11,516,548...11,530,263
Ensembl chrNW_004955451:11,516,548...11,530,830
G
Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:17609424
RGD:6483350
NCBI chrNW_004955437:1,513,425...1,516,164
Ensembl chrNW_004955437:1,513,418...1,516,164
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287727
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
G
Ptger4
prostaglandin E receptor 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19075289
NCBI chrNW_004955426:24,997,811...25,010,822
Ensembl chrNW_004955426:24,997,811...25,010,822
G
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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
G
Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chrNW_004955413:23,697,504...23,710,668
Ensembl chrNW_004955413:23,693,669...23,710,704
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
DNA:point mutation:codon 494:Glu-Asp
RGD
PMID:9047386
RGD:2298891
NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516
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Rpl11
ribosomal protein L11
susceptibility
ISO
RGD
PMID:26489471
RGD:11535971
NCBI chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209
G
Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chrNW_004955402:30,380,346...30,738,869
Ensembl chrNW_004955402:30,380,346...30,734,144
G
Sox4
SRY-box transcription factor 4
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chrNW_004955483:5,076,664...5,077,059
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:9242456 PMID:9546439 PMID:9704930 PMID:10411893 PMID:10797439 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:12826609 PMID:15381368 PMID:15722483 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17606709 PMID:18511570 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:24501221 PMID:24810334 PMID:25612911 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28492532 PMID:28573494 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:33300245 PMID:33372952 PMID:33471991 PMID:36988593 More...
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Twf1
twinfilin actin binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chrNW_004955500:3,050,028...3,070,799
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:9817281
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12176798
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:11157493
RGD:9743929
NCBI chrNW_004955469:2,762,696...2,773,697
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:26325374
RGD:11062098
NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11594583
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109
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Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:bone marrow
RGD
PMID:32763516
RGD:401827827
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Il10
interleukin 10
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080
RGD:11049165
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il6
interleukin 6
no_association
ISO
DNA:SNPs: :multiple DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
RGD
PMID:19573080
RGD:11049165
NCBI chrNW_004955410:25,079,835...25,084,390
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:23355206
RGD:11530052
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic
OMIM ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:28492532
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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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 chrNW_004955408:11,483,891...11,586,628
Ensembl chrNW_004955408:11,462,837...11,588,378
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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 chrNW_004955408:11,540,165...11,544,681
Ensembl chrNW_004955408:11,540,165...11,544,681
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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 chrNW_004955408:11,368,402...11,371,550
Ensembl chrNW_004955408:11,368,359...11,372,369
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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 chrNW_004955408:11,047,679...11,070,492
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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 chrNW_004955408:11,289,920...11,311,216
Ensembl chrNW_004955408:11,291,937...11,311,320
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Itk
IL2 inducible T cell kinase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
OMIM ClinVar
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:24448499 PMID:25339095 PMID:25741868 PMID:26056787 PMID:27454071 PMID:28492532 PMID:31388699 PMID:32150605 PMID:32628964 PMID:32888943 PMID:34170459 More...
NCBI chrNW_004955408:11,387,595...11,447,896
Ensembl chrNW_004955408:11,387,589...11,448,199
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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 chrNW_004955408:11,338,125...11,342,393
Ensembl chrNW_004955408:11,338,125...11,342,393
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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 chrNW_004955408:11,635,724...11,648,359
Ensembl chrNW_004955408:11,635,724...11,650,942
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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 chrNW_004955408:10,273,344...10,820,108
Ensembl chrNW_004955408:10,273,223...10,819,072
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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 chrNW_004955408:10,969,413...10,998,042
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acrbp
acrosin binding protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,251,608...4,262,095
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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 chrNW_004955493:6,023...31,418
Ensembl chrNW_004955493:6,023...31,418
G
Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,411,618...2,432,658
Ensembl chrNW_004955413:2,411,553...2,433,388
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Ano2
anoctamin 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:3,333,275...3,650,255
Ensembl chrNW_004955413:3,333,289...3,668,587
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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 chrNW_004955413:6,471,933...6,480,475
Ensembl chrNW_004955413:6,471,953...6,480,469
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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C1r
complement C1r
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304
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C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,663,643...4,670,454
Ensembl chrNW_004955413:4,662,303...4,670,638
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C1s
complement C1s
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,620,450...4,630,860
Ensembl chrNW_004955413:4,620,450...4,630,860
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C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689
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Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430
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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 chrNW_004955413:4,102,740...4,107,739
Ensembl chrNW_004955413:4,103,126...4,107,420
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Cd4
CD4 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,400,326...4,422,110
Ensembl chrNW_004955413:4,408,390...4,421,535
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Cd9
CD9 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:3,891,874...3,924,065
Ensembl chrNW_004955413:3,891,874...3,928,119
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Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,448,711...4,450,917
Ensembl chrNW_004955413:4,448,917...4,450,553
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Chd4
chromodomain helicase DNA binding protein 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,191,619...4,228,225
Ensembl chrNW_004955413:4,191,619...4,228,225
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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 chrNW_004955413:5,267,548...5,276,969
Ensembl chrNW_004955413:5,267,161...5,277,090
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Clec4e
C-type lectin domain family 4 member E
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:5,256,523...5,261,385
Ensembl chrNW_004955413:5,256,440...5,262,938
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Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,690,637...4,719,929
Ensembl chrNW_004955413:4,690,637...4,719,929
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Cops7a
COP9 signalosome subunit 7A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,337,117...4,343,640
Ensembl chrNW_004955413:4,337,117...4,343,722
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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 chrNW_004955413:2,359,480...2,410,395
Ensembl chrNW_004955413:2,363,882...2,410,720
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809
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Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769
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Ferry3
FERRY endosomal RAB5 effector complex subunit 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,298,514...2,335,308
Ensembl chrNW_004955413:2,298,970...2,335,237
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,182,459...2,192,279
Ensembl chrNW_004955413:2,182,459...2,192,279
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Fgf6
fibroblast growth factor 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,246,965...2,257,883
Ensembl chrNW_004955413:2,246,965...2,257,883
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Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:6,692,343...6,705,760
Ensembl chrNW_004955413:6,686,398...6,703,173
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Galnt8
polypeptide N-acetylgalactosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,510,123...2,566,842
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
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Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:6,493,734...6,516,315
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Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416
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Gpr162
G protein-coupled receptor 162
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,425,609...4,428,901
Ensembl chrNW_004955413:4,425,344...4,428,901
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Iffo1
intermediate filament family orphan 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,167,461...4,180,043
Ensembl chrNW_004955413:4,167,461...4,180,042
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Ing4
inhibitor of growth family member 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,263,647...4,274,476
Ensembl chrNW_004955413:4,263,647...4,274,476
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Kcna1
potassium voltage-gated channel subfamily A member 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,703,030...2,711,612
Ensembl chrNW_004955413:2,703,030...2,711,612
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,835,730...2,838,761
Ensembl chrNW_004955413:2,836,146...2,837,966
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Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,614,685...2,676,292
Ensembl chrNW_004955413:2,614,685...2,676,292
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Lag3
lymphocyte activating 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,379,529...4,385,456
Ensembl chrNW_004955413:4,378,972...4,385,909
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LOC102009926
chromosome unknown open reading frame, human C12orf57
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,524,236...4,525,760
Ensembl chrNW_004955413:4,524,236...4,525,760
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Lpar5
lysophosphatidic acid receptor 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,238,312...4,249,869
Ensembl chrNW_004955413:4,238,319...4,249,869
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Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,571,028...4,605,097
Ensembl chrNW_004955413:4,571,028...4,605,097
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Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,491,443...4,498,283
Ensembl chrNW_004955413:4,491,573...4,498,283
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Ltbr
lymphotoxin beta receptor
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,031,659...4,038,396
Ensembl chrNW_004955413:4,031,754...4,038,992
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Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:6,401,429...6,415,177
Ensembl chrNW_004955413:6,402,293...6,413,992
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Mlf2
myeloid leukemia factor 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,359,936...4,364,284
Ensembl chrNW_004955413:4,359,936...4,364,284
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Mrpl51
mitochondrial ribosomal protein L51
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,135,206...4,136,392
Ensembl chrNW_004955413:4,135,206...4,136,392
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Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:6,561,323...6,565,770
G
Ncapd2
non-SMC condensin I complex subunit D2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,136,492...4,160,550
Ensembl chrNW_004955413:4,137,216...4,160,550
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Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,435,717...2,475,158
Ensembl chrNW_004955413:2,435,775...2,475,331
G
Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:6,737,785...6,751,672
Ensembl chrNW_004955413:6,737,785...6,754,162
G
Nop2
NOP2 nucleolar protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,180,463...4,190,827
Ensembl chrNW_004955413:4,180,573...4,190,490
G
Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:3,207,669...3,273,371
Ensembl chrNW_004955413:3,207,123...3,273,491
G
P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,429,558...4,440,602
Ensembl chrNW_004955413:4,429,633...4,440,256
G
Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766
G
Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,557,969...4,563,697
Ensembl chrNW_004955413:4,558,259...4,563,582
G
Pianp
PILR alpha associated neural protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,309,104...4,314,961
Ensembl chrNW_004955413:4,309,104...4,314,961
G
Plekhg6
pleckstrin homology and RhoGEF domain containing G6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:3,969,459...3,982,348
Ensembl chrNW_004955413:3,970,923...3,982,154
G
Ptms
parathymosin
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,376,955...4,378,253
Ensembl chrNW_004955413:4,376,955...4,377,759
G
Ptpn6
protein tyrosine phosphatase non-receptor type 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,525,954...4,547,177
Ensembl chrNW_004955413:4,525,954...4,547,177
G
Rad51ap1
RAD51 associated protein 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,335,431...2,362,781
Ensembl chrNW_004955413:2,334,911...2,361,806
G
Rbp5
retinol binding protein 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,682,477...4,689,949
Ensembl chrNW_004955413:4,682,477...4,689,949
G
Rimklb
ribosomal modification protein rimK like family member B
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:6,298,833...6,362,812
Ensembl chrNW_004955413:6,306,414...6,346,278
G
Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,000,083...4,023,596
Ensembl chrNW_004955413:3,999,613...4,023,596
G
Tapbpl
TAP binding protein like
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,108,044...4,116,413
Ensembl chrNW_004955413:4,108,052...4,115,760
G
Tigar
TP53 induced glycolysis regulatory phosphatase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:2,129,719...2,153,873
Ensembl chrNW_004955413:2,129,678...2,154,380
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
G
Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,467,615...4,471,594
Ensembl chrNW_004955413:4,467,566...4,471,177
G
Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,451,530...4,466,832
Ensembl chrNW_004955413:4,451,622...4,466,832
G
Vamp1
vesicle associated membrane protein 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,117,367...4,124,149
Ensembl chrNW_004955413:4,117,367...4,124,149
G
Vwf
von Willebrand factor
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:25741868
NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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Znf384
zinc finger protein 384
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004955413:4,277,059...4,302,638
Ensembl chrNW_004955413:4,278,248...4,290,550
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il18
interleukin 18
ISO
associated with Arthritis, Juvenile;protein:increased expression:serum
RGD
PMID:20472718
RGD:8655917
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
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Nlrc4
NLR family CARD domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25217959
NCBI chrNW_004955441:570,853...607,529
Ensembl chrNW_004955441:570,880...603,128
G
Prf1
perforin 1
ISO
associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human)
RGD
PMID:20019066
RGD:6482811
NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ak1
adenylate kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
G
Arhgap29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chrNW_004955423:511,635...570,593
Ensembl chrNW_004955423:500,905...570,593
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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 chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chrNW_004955420:16,884,985...16,948,038
Ensembl chrNW_004955420:16,891,217...16,948,008
G
Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow, peripheral blood (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22383795 PMID:24060591 PMID:26174628
RGD:11352827
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
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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 chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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CUNH11orf65
chromosome unknown C11orf65 homolog
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
G
Eif4e
eukaryotic translation initiation factor 4E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chrNW_004955405:9,122,960...9,159,095
Ensembl chrNW_004955405:9,122,228...9,159,711
G
Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chrNW_004955463:13,702,434...13,720,875
Ensembl chrNW_004955463:13,702,434...13,720,875
G
Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chrNW_004955427:19,489,972...19,671,137
Ensembl chrNW_004955427:19,495,422...19,671,137
G
Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chrNW_004955486:3,813,923...3,837,563
Ensembl chrNW_004955486:3,813,923...3,838,119
G
Prame
PRAME nuclear receptor transcriptional regulator
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537
G
Wnt10a
Wnt family member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chrNW_004955453:14,528,373...14,540,801
Ensembl chrNW_004955453:14,528,153...14,540,818
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl10
BCL10 immune signaling adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004955423:8,710,231...8,720,530
Ensembl chrNW_004955423:8,709,890...8,722,050
G
Gfi1
growth factor independent 1 transcriptional repressor
disease_progression
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chrNW_004955423:2,024,084...2,032,530
Ensembl chrNW_004955423:2,022,417...2,033,149
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
MouseDO
NCBI chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
G
Nefh
neurofilament heavy chain
ISO
associated with Peripheral Nervous System Diseases
RGD
PMID:12536221
RGD:9693726
NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ar
androgen receptor
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
PMID:16804045 PMID:28492532 PMID:36572623
NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
G
Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004955500:4,998,555...5,177,180
Ensembl chrNW_004955500:4,998,555...5,175,776
G
Kmt2b
lysine methyltransferase 2B
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004955468:2,813,183...2,834,326
Ensembl chrNW_004955468:2,813,496...2,834,326
G
Map2k2
mitogen-activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004955495:4,695,239...4,718,380
Ensembl chrNW_004955495:4,695,768...4,722,098
G
Mpeg1
macrophage expressed 1
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004955511:3,783,200...3,787,300
Ensembl chrNW_004955511:3,785,019...3,787,154
G
Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcg2
ATP binding cassette subfamily G member 2 (JR blood group)
treatment
ISO
RGD
PMID:16917002 PMID:26314844
RGD:11081075 RGD:11081144
NCBI chrNW_004955474:12,365,903...12,408,715
G
Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chrNW_004955447:9,327...21,212
G
Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004955478:11,104,445...11,128,980
Ensembl chrNW_004955478:11,105,920...11,128,222
G
Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
G
Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955466:12,017,588...12,087,667
G
Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
G
Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955445:2,831,073...2,853,151
Ensembl chrNW_004955445:2,831,157...2,853,357
G
B2m
beta-2-microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:26619011
NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
G
Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645
G
Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955457:1,187,942...1,258,475
Ensembl chrNW_004955457:1,187,942...1,253,803
G
Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
G
Bcl2l1
BCL2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
G
Bcorl1
BCL6 corepressor like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955473:4,990,974...5,054,829
Ensembl chrNW_004955473:4,989,366...5,054,925
G
Bnip3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172295
NCBI chrNW_004955477:9,621,812...9,630,406
Ensembl chrNW_004955477:9,621,812...9,638,099
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chrNW_004955494:2,567,238...2,712,708
G
Brca2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 PMID:22666503 PMID:23451180 PMID:25741868 PMID:28492532 PMID:30883759 PMID:32398771 PMID:33646313 More...
NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
G
Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chrNW_004955405:29,206,889...29,209,407
Ensembl chrNW_004955405:29,206,889...29,209,407
G
Cbl
Cbl proto-oncogene
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
G
Cbx7
chromobox 7
susceptibility
ISO
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23955597
RGD:11352716
NCBI chrNW_004955413:25,079,627...25,100,039
Ensembl chrNW_004955413:25,086,186...25,100,039
G
Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA,protein:increased expression:bone marrow (human) mRNA, protein:increased expression:bone marrow (human)
RGD
PMID:25061178 PMID:28035364
RGD:329845528 RGD:329845546
NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166
G
Ccnd1
cyclin D1
susceptibility
ISO
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO DNA:snp:exon:c.870G>A (rs603965) (human)
ClinVar RGD OMIM
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 More...
RGD:11353784
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
G
Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chrNW_004955413:2,083,351...2,108,450
Ensembl chrNW_004955413:2,083,351...2,103,430
G
Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chrNW_004955437:8,266,523...8,273,855
Ensembl chrNW_004955437:8,268,118...8,273,855
G
Cd40
CD40 molecule
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
G
Cd40lg
CD40 ligand
treatment disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:15565183 PMID:22403003 PMID:27243341
RGD:11352240 RGD:11352251 RGD:11352268
NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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Cd46
CD46 molecule
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chrNW_004955406:43,002,817...43,034,555
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Cd86
CD86 molecule
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:bone marrow, plasma cell (human)
CTD RGD
PMID:16611307 PMID:22705596
RGD:11354971
NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
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Cdk4
cyclin dependent kinase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
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 chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
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Cdkn2c
cyclin dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955464:8,022,596...8,028,241
Ensembl chrNW_004955464:8,021,887...8,028,241
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
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Crbn
cereblon
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955421:10,166,927...10,190,470
Ensembl chrNW_004955421:10,166,962...10,189,916
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955433:8,788,867...8,845,925
Ensembl chrNW_004955433:8,788,655...8,845,925
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955404:33,897,681...33,924,069
Ensembl chrNW_004955404:33,897,237...33,924,069
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chrNW_004955402:18,826,400...18,876,188
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Eif1ax
eukaryotic translation initiation factor 1A X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955509:577,975...594,028
Ensembl chrNW_004955509:577,975...594,028
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:SNP:exon:rs2234922 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
RGD CTD
PMID:16949155 PMID:19736056 PMID:24521996
RGD:11252116 RGD:11252121 RGD:11252122
NCBI chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665
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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 chrNW_004955555:2,393,510...2,430,180
Ensembl chrNW_004955555:2,393,278...2,406,582
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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:17131345 PMID:22183071
RGD:11252199 RGD:401827277
NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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Erf
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277
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Faslg
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16501574 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18000976 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:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chrNW_004955471:8,786,910...8,794,947
Ensembl chrNW_004955471:8,786,910...8,795,013
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Flt3
fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955497:7,357,533...7,441,215
Ensembl chrNW_004955497:7,357,212...7,461,439
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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 chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chrNW_004955433:11,424,069...11,834,955
Ensembl chrNW_004955433:11,424,176...11,813,771
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chrNW_004955532:1,298,336...1,298,830
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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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:17512053 PMID:18061666 PMID:23953887
RGD:10755413 RGD:10755419 RGD:11075094
NCBI chrNW_004955422:17,914,228...17,916,918
Ensembl chrNW_004955422:17,914,305...17,917,428
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H1-4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955483:870,957...871,724
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.C282Y (human)
RGD
PMID:10383894
RGD:8694350
NCBI chrNW_004955483:933,269...941,070
Ensembl chrNW_004955483:932,352...941,143
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324
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Hras
HRas proto-oncogene, GTPase
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:20301680 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:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chrNW_004955844:8,094...9,565
Ensembl chrNW_004955844:7,790...10,004
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum:
RGD
PMID:7686390 PMID:7834632
RGD:11354981 RGD:11520780
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Igf2r
insulin like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281
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Il10
interleukin 10
disease_progression
ISO
protein:increased expression:serum DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
RGD
PMID:11022130 PMID:11307152
RGD:11041888 RGD:11049458
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human)
RGD
PMID:1777241 PMID:17926179 PMID:25469832
RGD:11049156 RGD:11051973 RGD:11059513
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
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Il1b
interleukin 1 beta
ISO
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)
RGD
PMID:17926179
RGD:11051973
NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:repeats:intron: DNA:snp: :11100C>T (human)
RGD
PMID:10848780 PMID:17926179
RGD:11051973 RGD:11522764
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chrNW_004955493:5,546,340...5,580,745
Ensembl chrNW_004955493:5,545,944...5,582,422
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chrNW_004955410:25,079,835...25,084,390
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577
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Irf4
interferon regulatory factor 4
disease_progression treatment
ISO
DNA:translocation CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574
RGD:11526161 RGD:11530019 RGD:11530055
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955475:243,666...278,064
Ensembl chrNW_004955475:243,666...278,627
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955491:6,245,408...6,420,535
Ensembl chrNW_004955491:6,247,249...6,402,470
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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 chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
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 chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955439:11,559,655...11,611,287
Ensembl chrNW_004955439:11,559,657...11,611,660
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Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis
OMIM ClinVar
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 More...
NCBI chrNW_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193
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LOC102010850
cytochrome P450 1A1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
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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:20301680 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:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
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Maf
MAF bZIP transcription factor
ISO
OMIM:254500
MouseDO
NCBI chrNW_004955522:2,514,313...2,519,694
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chrNW_004955413:238,043...243,317
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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 chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004955428:21,475,981...21,507,730
Ensembl chrNW_004955428:21,475,981...21,507,730
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004955550:2,211,270...2,227,715
Ensembl chrNW_004955550:2,211,270...2,227,715
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Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955532:1,774,726...1,789,662
Ensembl chrNW_004955532:1,775,033...1,787,990
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chrNW_004955545:1,657,728...1,662,112
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Ncor2
nuclear receptor corepressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955482:4,927,482...5,031,848
Ensembl chrNW_004955482:4,942,221...5,031,904
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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Nfkbia
NFKB inhibitor alpha
ISO
DNA:polymorphism
RGD
PMID:12377412 PMID:16540234
RGD:2298895 RGD:2298898
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
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Nono
non-POU domain containing octamer binding
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519
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Notch2
notch receptor 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) DNA:missense mutation:cds:p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16949155 PMID:18061666 PMID:18156703
RGD:10755419 RGD:10769348
NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604
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Nras
NRAS proto-oncogene, GTPase
treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
RGD 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:24335104 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25073507 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:36130886 More...
RGD:11535049
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
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Nuak1
NUAK family kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chrNW_004955405:40,156,316...40,188,144
Ensembl chrNW_004955405:40,153,747...40,188,145
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P2ry8
P2Y receptor family member 8
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955499:1,062,233...1,064,588
G
Parp1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chrNW_004955489:520,875...557,609
Ensembl chrNW_004955489:520,875...557,615
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955524:3,234,111...3,241,445
Ensembl chrNW_004955524:3,234,111...3,241,173
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Pml
PML nuclear body scaffold
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chrNW_004955450:3,654,854...3,692,057
Ensembl chrNW_004955450:3,656,498...3,692,406
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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 chrNW_004955555:2,389,569...2,393,410
Ensembl chrNW_004955555:2,391,106...2,393,369
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Pon1
paraoxonase 1
susceptibility severity treatment
ISO
DNA:missense mutation:cds:p.Q192R (human) protein:decreased activity:serum (human)
RGD
PMID:15136237 PMID:22348216 PMID:25520116
RGD:10450846 RGD:11040544 RGD:11552578
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chrNW_004955455:6,921,420...6,930,453
Ensembl chrNW_004955455:6,921,052...6,930,537
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chrNW_004955409:37,369,507...37,378,034
Ensembl chrNW_004955409:37,369,234...37,378,093
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Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chrNW_004955583:975,037...977,944
Ensembl chrNW_004955583:974,890...976,777
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Pthlh
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335
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Ranbp2
RAN binding protein 2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chrNW_004955470:12,180,426...12,247,737
Ensembl chrNW_004955470:12,180,544...12,249,555
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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 chrNW_004955402:11,245,857...11,331,872
Ensembl chrNW_004955402:11,245,819...11,335,367
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Rbp1
retinol binding protein 1
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chrNW_004955508:6,046,738...6,072,202
Ensembl chrNW_004955508:6,046,316...6,072,288
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chrNW_004955454:3,136,097...3,142,525
Ensembl chrNW_004955454:3,136,216...3,142,422
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053
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Runx1
RUNX family transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chrNW_004955407:34,108,653...34,342,657
Ensembl chrNW_004955407:34,104,035...34,342,928
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955422:24,714,103...24,780,672
Ensembl chrNW_004955422:24,735,161...24,778,830
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955439:2,399,992...2,406,587
Ensembl chrNW_004955439:2,290,035...2,406,587
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955482:8,079,905...8,100,791
Ensembl chrNW_004955482:8,096,160...8,097,765
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15908783
RGD:1581238
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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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 chrNW_004955408:6,100,123...6,122,460
Ensembl chrNW_004955408:6,099,003...6,122,459
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chrNW_004955474:1,914,477...1,922,025
Ensembl chrNW_004955474:1,913,829...1,922,016
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
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Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955424:11,612,124...11,722,130
Ensembl chrNW_004955424:11,617,993...11,714,203
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
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Tgfb1
transforming growth factor beta 1
disease_progression
ISO
protein:decreased expression:serum: DNA:hypermethylation: :
RGD
PMID:22560388 PMID:23699600
RGD:11073605 RGD:11073614
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chrNW_004955577:930,612...971,698
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Tnfrsf17
TNF receptor superfamily member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chrNW_004955442:6,626,434...6,651,193
Ensembl chrNW_004955442:6,626,399...6,629,931
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
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Tp53
tumor protein p53
disease_progression treatment
ISO
protein:increased expression:nucleus: ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis DNA:deletion: : DNA:polymorphism:cds:p.R72P(human)
RGD ClinVar
PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8479749 PMID:8718514 PMID:9047394 PMID:9242456 PMID:9399838 PMID:9482117 PMID:9546439 PMID:9704930 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11904319 PMID:12672316 PMID:12745272 PMID:12826609 PMID:14743206 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22261445 PMID:22666503 PMID:22811390 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:23612969 PMID:24501221 PMID:24611901 PMID:24677579 PMID:24810334 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28573494 PMID:28873162 PMID:28975465 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31212162 PMID:31559875 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 More...
RGD:11073716 RGD:11073728 RGD:11075073
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955421:10,192,065...10,211,527
Ensembl chrNW_004955421:10,189,469...10,211,434
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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 chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
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Ulk4
unc-51 like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chrNW_004955420:28,633,011...29,031,161
Ensembl chrNW_004955420:28,633,726...29,028,025
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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 chrNW_004955437:9,527,445...9,541,908
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Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chrNW_004955437:9,351,045...9,392,396
Ensembl chrNW_004955437:9,351,045...9,392,396
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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 chrNW_004955538:2,499,297...2,511,898
Ensembl chrNW_004955538:2,501,607...2,509,778
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chrNW_004955418:27,174,510...27,426,245
Ensembl chrNW_004955418:27,173,659...27,426,264
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Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNP:3'-UTR (human)
RGD
PMID:17901044
RGD:8698655
NCBI chrNW_004955453:16,967,453...17,054,634
Ensembl chrNW_004955453:16,967,453...17,054,634
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408
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Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004955528:935,182...951,722
Ensembl chrNW_004955528:935,182...951,722
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Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004955438:21,341,374...21,377,674
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Clu
clusterin
disease_progression
ISO
RGD
PMID:23702390
RGD:8923490
NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis, dermis (human)
RGD
PMID:24127318
RGD:8695934
NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
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Sod2
superoxide dismutase 2
ISO
protein:increased expression:skin:
RGD
PMID:20833513
RGD:8547521
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcb1
ATP binding cassette subfamily B member 1
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chrNW_004955432:4,911,774...5,085,349
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Cd274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
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Cflar
CASP8 and FADD like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chrNW_004955403:415,092...442,214
Ensembl chrNW_004955403:412,632...434,741
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Fas
Fas cell surface death receptor
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chrNW_004955408:2,622,162...2,629,088
Ensembl chrNW_004955408:2,622,741...2,629,032
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chrNW_004955411:31,434,503...31,455,995
Ensembl chrNW_004955411:31,434,503...31,456,056
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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 chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932
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Axl
AXL receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955555:189,445...218,509
Ensembl chrNW_004955555:189,174...218,565
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
PMID:28492532
NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369
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Cul3
cullin 3
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955453:9,546,554...9,629,976
Ensembl chrNW_004955453:9,564,522...9,629,976
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955457:3,177,905...4,236,152
Ensembl chrNW_004955457:3,177,991...4,228,558
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Igf1r
insulin like growth factor 1 receptor
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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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 chrNW_004955501:251,829...381,255
Ensembl chrNW_004955501:259,645...379,909
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Ptprs
protein tyrosine phosphatase receptor type S
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955495:3,943,075...3,991,361
Ensembl chrNW_004955495:3,943,170...3,990,927
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Runx1t1
RUNX1 partner transcriptional co-repressor 1
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955417:8,580,355...8,714,267
Ensembl chrNW_004955417:8,580,363...8,721,416
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Anxa7
annexin A7
ISO
protein:decreased expression:lymph node
RGD
PMID:17708571
RGD:2292654
NCBI chrNW_004955437:18,394,371...18,421,779
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B2m
beta-2-microglobulin
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:22693999
NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
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Bcl10
BCL10 immune signaling adaptor
ISO
OMIM
NCBI chrNW_004955423:8,710,231...8,720,530
Ensembl chrNW_004955423:8,709,890...8,722,050
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Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3287162 PMID:26239085
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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Bcl6
BCL6 transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25543051
NCBI chrNW_004955420:19,998,960...20,021,200
Ensembl chrNW_004955420:19,998,742...20,022,259
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Bhmt
betaine--homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004955425:21,992,219...22,009,389
Ensembl chrNW_004955425:21,991,665...22,009,855
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:12068308 PMID:12960123 PMID:14612909 PMID:14688025 PMID:17603483 PMID:19206169 PMID:23352452 PMID:24033266 PMID:24303953 PMID:24446311 PMID:24920063 PMID:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29595366 More...
NCBI chrNW_004955494:2,567,238...2,712,708
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Cbs
cystathionine beta-synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
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Ccnd1
cyclin D1
susceptibility
ISO
DNA:snp:exon:c.870G>A (human)
RGD
PMID:25169547
RGD:11353786
NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:19636010
RGD:11522746
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:19633198
RGD:151665149
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26506619
NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:11486401 PMID:11732872
NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11911406
NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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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 chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
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Ephx1
epoxide hydrolase 1
ISO
DNA:polymorphism CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11406608
RGD:1601063
NCBI chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665
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Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004955419:853,891...871,729
Ensembl chrNW_004955419:851,152...871,522
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:25016003
RGD:11352765
NCBI chrNW_004955532:1,298,336...1,298,830
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
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Igf2r
insulin like growth factor 2 receptor
ISO
protein:increased expression:serum:
RGD
PMID:29940770
RGD:14985218
NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281
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Kmt2a
lysine methyltransferase 2A
ISO
DNA:rearrangements
RGD
PMID:8361504
RGD:1625285
NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527
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LOC102026028
cytochrome P450 2E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chrNW_004955507:6,293,162...6,303,255
Ensembl chrNW_004955507:6,289,576...6,304,193
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Lrrc41
leucine rich repeat containing 41
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
NCBI chrNW_004955464:11,976,259...11,996,588
Ensembl chrNW_004955464:11,976,259...11,996,588
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Malt1
MALT1 paracaspase
ISO
RGD
PMID:12560219
RGD:1599912
NCBI chrNW_004955402:42,919,480...42,968,873
Ensembl chrNW_004955402:42,911,649...42,972,429
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488658
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:15159311
RGD:11531140
NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645
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Mtss1
MTSS I-BAR domain containing 1
ISO
OMIM:605027
MouseDO
NCBI chrNW_004955540:3,204,357...3,346,026
Ensembl chrNW_004955540:3,204,367...3,346,026
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:12139735
RGD:11553822
NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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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
OMIM ClinVar
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:29239076 PMID:31395954 PMID:32542393 PMID:33570715 PMID:34083498 PMID:35835228 PMID:36706356 More...
NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929
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Rad54b
RAD54 homolog B
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
OMIM ClinVar
PMID:10362364 PMID:28492532
NCBI chrNW_004955417:10,598,295...10,685,999
Ensembl chrNW_004955417:10,597,450...10,686,005
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Rad54l
RAD54 like
ISO
ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
OMIM ClinVar
PMID:10362365 PMID:25741868
NCBI chrNW_004955464:11,996,512...12,033,525
Ensembl chrNW_004955464:11,996,512...12,033,490
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S1pr2
sphingosine-1-phosphate receptor 2
ISO
OMIM:605027
MouseDO
NCBI chrNW_004955495:1,528,963...1,530,527
Ensembl chrNW_004955495:1,529,428...1,530,486
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Shmt1
serine hydroxymethyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
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Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chrNW_004955466:10,543,331...10,600,990
Ensembl chrNW_004955466:10,543,331...10,600,990
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:1565144 PMID:10629033 PMID:12826609 PMID:16007150 PMID:17606709 PMID:20128691 PMID:21343334 PMID:25741868 PMID:28492532 PMID:29955864 PMID:29979965 PMID:30224644 PMID:32191290 More...
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16365025
NCBI chrNW_004955402:9,295,862...9,304,952
Ensembl chrNW_004955402:9,296,321...9,306,631
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
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Cdc42
cell division cycle 42
ISO
ClinVar Annotator: match by term: Noonan-like syndrome
ClinVar
PMID:25741868 PMID:29394990
NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042
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Erf
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder
ClinVar
PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30758909 PMID:32370745 PMID:35852485 More...
NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277
G
Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
DNA:missense mutations:cds:p.D106A, p.F285L (human)
RGD
PMID:15996221
RGD:11064737
NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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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:20133694 PMID:20186801 PMID:20301303 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:22253195 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:22589294 PMID:23452850 PMID:23487764 PMID:23673306 PMID:23756559 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24124081 PMID:24270602 PMID:24451042 PMID:24458522 PMID:24522193 PMID:24803665 PMID:24896146 PMID:24939586 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:29554876 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:33318624 PMID:33771761 PMID:33848766 PMID:34008892 PMID:34136918 PMID:34163525 PMID:34358384 PMID:34411415 PMID:34434697 PMID:35506549 PMID:35904599 PMID:35982160 PMID:36110220 PMID:36413997 More...
NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028
G
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 chrNW_004955417:16,047,263...16,070,506
Ensembl chrNW_004955417:16,047,263...16,072,854
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Shoc2
SHOC2 leucine rich repeat scaffold protein
ISO
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:33673806 PMID:34008892 PMID:35348676 PMID:38259611 More...
NCBI chrNW_004955485:430,493...517,767
Ensembl chrNW_004955485:430,493...517,126
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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
OMIM ClinVar
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:38259611 More...
NCBI chrNW_004955485:430,493...517,767
Ensembl chrNW_004955485:430,493...517,126
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955469:10,657,029...10,682,398
Ensembl chrNW_004955469:10,662,032...10,682,398
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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:20619389 PMID:20694012 PMID:20951944 PMID:20955399 PMID:21828135 PMID:21901340 PMID:22190897 PMID:22246246 PMID:22733026 PMID:22817890 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24458550 PMID:24463883 PMID:24493670 PMID:24728327 PMID:24801577 PMID:24803665 PMID:24896146 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25426838 PMID:25533962 PMID:25731833 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26580448 PMID:26676746 PMID:26847329 PMID:27069254 PMID:27609087 PMID:27784745 PMID:27941868 PMID:28343148 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29177441 PMID:29296819 PMID:31101757 PMID:31333075 PMID:31568572 PMID:31664448 PMID:31935506 PMID:31970404 PMID:32533790 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33550024 PMID:33627783 PMID:38613168 More...
NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
G
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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
G
B2m
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chrNW_004955416:11,205,503...11,211,325
Ensembl chrNW_004955416:11,204,849...11,215,568
G
Cd28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
G
Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chrNW_004955411:36,403,156...36,597,660
Ensembl chrNW_004955411:36,401,842...36,512,054
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
G
Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28659334
NCBI chrNW_004955555:1,959,702...1,985,679
G
Rc3h1
ring finger and CCCH-type domains 1
ISO
MouseDO
NCBI chrNW_004955406:14,053,122...14,123,023
Ensembl chrNW_004955406:14,053,122...14,123,029
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
G
Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl2l1
BCL2 like 1
severity
ISO
RGD
PMID:15725478
RGD:11353872
NCBI chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
G
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:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chrNW_004955494:2,567,238...2,712,708
G
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:10696568 PMID:11055896 PMID:11241532 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16501574 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18000976 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:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
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 chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:15696205 PMID:25741868
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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 chrNW_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8479749 PMID:9047394 PMID:9242456 PMID:9399838 PMID:9482117 PMID:9546439 PMID:9704930 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11904319 PMID:12672316 PMID:12826609 PMID:14743206 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22666503 PMID:22811390 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:23612969 PMID:24501221 PMID:24677579 PMID:24810334 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28573494 PMID:28873162 PMID:28975465 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31212162 PMID:31559875 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:36988593 More...
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bcl2
BCL2 apoptosis regulator
susceptibility
ISO
human gene in a mouse model
RGD
PMID:14695177
RGD:11526108
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
G
Il10
interleukin 10
ISO
RGD
PMID:26140236
RGD:11049175
NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
G
Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:2022919
RGD:10449448
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
G
Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955494:2,567,238...2,712,708
G
Card11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041
G
Ccl20
C-C motif chemokine ligand 20
disease_progression
ISO
mRNA, protein:increased expression:skin, serum
RGD
PMID:22048239
RGD:7483601
NCBI chrNW_004955453:6,846,625...6,850,007
Ensembl chrNW_004955453:6,846,549...6,850,031
G
Ccl26
C-C motif chemokine ligand 26
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:20505746
RGD:11087556
NCBI chrNW_004955456:14,554,583...14,558,967
G
Ccr6
C-C motif chemokine receptor 6
ISO
mRNA, protein:increased expression:skin
RGD
PMID:22048239
RGD:7483601
NCBI chrNW_004955439:14,921,524...14,949,493
Ensembl chrNW_004955439:14,920,601...14,924,191
G
Cd28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:26258847
NCBI chrNW_004955457:11,159,769...11,253,099
Ensembl chrNW_004955457:11,162,282...11,192,991
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion (human)
RGD
PMID:20118908
RGD:8552306
NCBI chrNW_004955472:12,275,613...12,280,141
Ensembl chrNW_004955472:12,275,544...12,280,528
G
Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955484:9,041,226...9,092,924
Ensembl chrNW_004955484:9,042,524...9,064,927
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
G
Il18
interleukin 18
ISO
protein:increased expression:plasma
RGD
PMID:16428475
RGD:8655925
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
G
Il4
interleukin 4
ISO
mRNA:increased expression:skin
RGD
PMID:7963654
RGD:7829823
NCBI chrNW_004955408:4,058,052...4,065,999
G
Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955465:12,497,534...12,512,529
Ensembl chrNW_004955465:12,497,462...12,513,106
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chrNW_004955413:238,043...243,317
G
Nfkb2
nuclear factor kappa B subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955485:7,994,730...8,001,776
Ensembl chrNW_004955485:7,994,874...8,000,444
G
Plcg1
phospholipase C gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955445:15,787,496...15,823,859
Ensembl chrNW_004955445:15,787,496...15,823,859
G
Prkcq
protein kinase C theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955421:23,072,607...23,151,591
Ensembl chrNW_004955421:23,070,955...23,175,699
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
G
Tnfaip3
TNF alpha induced protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955436:21,566,591...21,581,551
Ensembl chrNW_004955436:21,566,423...21,578,469
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004955429:23,011,627...23,198,188
Ensembl chrNW_004955429:23,010,790...23,198,250
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ada
adenosine deaminase
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10410539
RGD:5128856
NCBI chrNW_004955445:12,696,096...12,717,488
Ensembl chrNW_004955445:12,696,096...12,717,488
G
Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:16315781
RGD:4891110
NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
G
C3
complement C3
ISO
protein:altered expression:lung
RGD
PMID:18069416
RGD:5129502
NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
G
Ccl19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chrNW_004955472:1,444,598...1,446,488
Ensembl chrNW_004955472:1,444,316...1,446,490
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD
PMID:10384061
RGD:4891436
NCBI chrNW_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143
G
Ccr7
C-C motif chemokine receptor 7
ISO
mRNA:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chrNW_004955451:15,086,119...15,101,862
Ensembl chrNW_004955451:15,086,119...15,095,561
G
Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations:whole blood :
RGD
PMID:20722470
RGD:4139905
NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:15763444
RGD:4892634
NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9834133 PMID:17550373
RGD:5135438 RGD:5135492
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
G
Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:serum
RGD
PMID:17550373
RGD:5135438
NCBI chrNW_004955433:769,449...771,137
Ensembl chrNW_004955433:766,272...771,231
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum, respiratory system fluid/secretion
RGD
PMID:17550373
RGD:5135438
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, T cell
RGD
PMID:9834133
RGD:5135492
NCBI chrNW_004955475:11,148,928...11,152,313
Ensembl chrNW_004955475:11,148,879...11,152,596
G
Egr1
early growth response 1
ISO
protein:increased expression:lung (human)
RGD
PMID:16933469
RGD:5131899
NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
G
Hmox1
heme oxygenase 1
ISO
protein:increased activity:sputum
RGD
PMID:19453654
RGD:4145349
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
G
Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chrNW_004955471:1,496,352...1,583,919
Ensembl chrNW_004955471:1,497,483...1,511,469
G
Il18
interleukin 18
ISO
protein:increased expression:bronchoalveolar lavage fluid protein:increased expression:serum
RGD
PMID:11174201 PMID:16734560
RGD:4889823 RGD:4889863
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
G
Il18r1
interleukin 18 receptor 1
severity
ISO
RGD
PMID:14641797
RGD:5024944
NCBI chrNW_004955470:7,854,995...7,887,810
Ensembl chrNW_004955470:7,854,988...7,887,883
G
Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:8239179
RGD:4143198
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
G
LOC102004444
beta-defensin 1-like
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chrNW_004955403:53,643,328...53,644,361
Ensembl chrNW_004955403:53,643,300...53,644,505
G
LOC102004641
cytochrome b-245 light chain
no_association
ISO
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118
G
Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:15713215
RGD:4143248
NCBI chrNW_004955437:114,216...116,003
Ensembl chrNW_004955437:114,640...115,529
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:14665489
RGD:5131177
NCBI chrNW_004955545:1,657,728...1,662,112
G
Ngf
nerve growth factor
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 RGD:5144061
NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
G
Nod2
nucleotide binding oligomerization domain containing 2
disease_progression
ISO
DNA:polymorphism:exon:2104C>T (human)
RGD
PMID:19679608
RGD:4892066
NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
G
Nos2
nitric oxide synthase 2
ISO
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
G
Nr3c1
nuclear receptor subfamily 3 group C member 1
ISO
protein:increased expression:lung
RGD
PMID:2255800
RGD:4892566
NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
G
Ntf3
neurotrophin 3
disease_progression
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 RGD:5144061
NCBI chrNW_004955413:3,207,669...3,273,371
Ensembl chrNW_004955413:3,207,123...3,273,491
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression: :
RGD
PMID:16315781
RGD:4891110
NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579
G
Tgfb1
transforming growth factor beta 1
severity
ISO
DNA:polymorphisms: :-509C>T (human)
RGD
PMID:17785866
RGD:4145294
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
G
Tlr2
toll like receptor 2
ISO
mRNA:decreased expression:alveolar macrophage
RGD
PMID:20813038 PMID:23668840
RGD:4145301 RGD:8553184
NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
G
Tnc
tenascin C
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9780295
RGD:4889595
NCBI chrNW_004955419:12,569,620...12,662,897
Ensembl chrNW_004955419:12,569,547...12,662,958
G
Tnf
tumor necrosis factor
ISO
DNA:polymorphism:promoter
RGD
PMID:15653992 PMID:20070603
RGD:4143236 RGD:4143466
NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (human)
RGD
PMID:21508170
RGD:5131275
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
G
Vip
vasoactive intestinal peptide
ISO
RGD
PMID:20442436
RGD:5685623
NCBI chrNW_004955439:9,021,923...9,031,783
Ensembl chrNW_004955439:9,021,904...9,031,792
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Pyogenic granuloma
ClinVar
PMID:25741868
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:blood vessel
RGD
PMID:18700251
RGD:8694308
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccl1
C-C motif chemokine ligand 1
ISO
associated with Schistosomiasis mansoni
RGD
PMID:12600821
RGD:4145441
NCBI chrNW_004955481:9,085,943...9,089,147
G
Ccl17
C-C motif chemokine ligand 17
ISO
RGD
PMID:15466387
RGD:4145515
NCBI chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
G
Ccl22
C-C motif chemokine ligand 22
ISO
associated with Schistosomiasis mansoni associated with Mycobacterium Infections
RGD
PMID:12600821 PMID:15466387
RGD:4145441 RGD:4145515
NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21273392
RGD:5683877
NCBI chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21273392
RGD:5683877
NCBI chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
G
Il13
interleukin 13
treatment
ISO
RGD
PMID:10857756
RGD:8549624
NCBI chrNW_004955408:4,046,406...4,049,795
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
G
Tlr3
toll like receptor 3
ISO
RGD
PMID:19009529
RGD:5129133
NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
G
Tlr9
toll like receptor 9
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17853411 PMID:19797157
RGD:5130186
NCBI chrNW_004955532:3,828,645...3,832,699
Ensembl chrNW_004955532:3,828,775...3,832,582
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Agtr1
angiotensin II receptor type 1
no_association
ISO
DNA:polymorphism: :1166A>C (human)
RGD
PMID:20560294 PMID:21319597
RGD:5129164 RGD:5129165
NCBI chrNW_004955474:8,733,942...8,781,305
Ensembl chrNW_004955474:8,733,942...8,781,255
G
Anxa11
annexin A11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19165924
NCBI chrNW_004955437:13,119,782...13,161,196
Ensembl chrNW_004955437:13,119,782...13,161,536
G
Btnl2
butyrophilin like 2
susceptibility
ISO
ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2
OMIM ClinVar
PMID:15735647
NCBI chrNW_004955437:1,084,330...1,101,751
Ensembl chrNW_004955437:1,083,745...1,101,730
G
Ccl17
C-C motif chemokine ligand 17
ISO
protein:increased expression:serum
RGD
PMID:17949965
RGD:4145494
NCBI chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:18513341
RGD:4144898
NCBI chrNW_004955420:25,641,184...25,664,413
G
Cd14
CD14 molecule
susceptibility
ISO
protein:increased expression:serum DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:20430603
RGD:4144780
NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
mRNA:increased expression:skin:
RGD
PMID:12885947
RGD:8662819
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:polymorphism:exon (human)
RGD
PMID:14620161
RGD:4891520
NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
G
Il18
interleukin 18
disease_progression
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16100009 PMID:17015003
RGD:4889815
NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
G
Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human)
RGD
PMID:21846945
RGD:8549545
NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904
G
LOC102026469
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8909942 PMID:14508706 PMID:17956852
NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042
G
Prdx5
peroxiredoxin 5
ISO
protein:increased expression:alveolus of lung (human)
RGD
PMID:22837380
RGD:41404683
NCBI chrNW_004955422:20,763,822...20,766,976
Ensembl chrNW_004955422:20,761,495...20,766,976
G
Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
protein:decreased expression:lung: DNA:SNP: :8473 T > C (human)
RGD
PMID:14511257 PMID:19042116
RGD:5135505 RGD:5135507
NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
G
Sftpd
surfactant protein D
ISO
associated with Uveitis;protein:increased expression:serum
RGD
PMID:20151281
RGD:4143491
NCBI chrNW_004955510:213,468...226,096
Ensembl chrNW_004955510:213,438...225,896
G
Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism DNA:repeat, SNP:promoter, intron (human)
CTD RGD
PMID:16597321 PMID:22160516
RGD:5684925
NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
G
Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785866
NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:1831824
RGD:7794711
NCBI chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:16096327
RGD:11522758
NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
G
Bcl10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: Sezary syndrome
ClinVar
PMID:9989495
NCBI chrNW_004955423:8,710,231...8,720,530
Ensembl chrNW_004955423:8,709,890...8,722,050
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955494:2,567,238...2,712,708
G
Brd9
bromodomain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955504:416,145...434,132
Ensembl chrNW_004955504:415,904...434,142
G
Card11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041
G
Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004955421:205,297...210,944
Ensembl chrNW_004955421:205,297...210,944
G
Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955413:9,615,542...9,620,542
Ensembl chrNW_004955413:9,615,542...9,620,542
G
Chd3
chromodomain helicase DNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955467:9,024,112...9,050,062
Ensembl chrNW_004955467:9,029,265...9,050,718
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
G
Il2rg
interleukin 2 receptor subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517
G
Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955491:6,245,408...6,420,535
Ensembl chrNW_004955491:6,247,249...6,402,470
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
G
Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
G
Plcg1
phospholipase C gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004955445:15,787,496...15,823,859
Ensembl chrNW_004955445:15,787,496...15,823,859
G
Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955425:6,176,335...7,335,867
Ensembl chrNW_004955425:6,176,432...7,331,446
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
G
Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
G
Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004955452:5,905,561...5,938,096
Ensembl chrNW_004955452:5,904,762...5,939,091
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16403914
RGD:8661723
NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004955496:3,885,684...3,963,056
Ensembl chrNW_004955496:3,885,035...3,926,106
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004955429:23,011,627...23,198,188
Ensembl chrNW_004955429:23,010,790...23,198,250
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd79b
CD79b molecule
ISO
protein:decreased expression:blood, B cell (human)
RGD
PMID:10329919
RGD:11531139
NCBI chrNW_004955478:7,909,353...7,912,814
Ensembl chrNW_004955478:7,909,153...7,913,166
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Havcr2
hepatitis A virus cellular receptor 2
ISO
ClinVar Annotator: match by term: HAVCR2-related condition | ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30374066 PMID:30429576 PMID:30792187 PMID:32005988 PMID:34398459 PMID:34398505 PMID:34426522 PMID:36171125 PMID:36212426 PMID:37062931 More...
NCBI chrNW_004955408:11,289,920...11,311,216
Ensembl chrNW_004955408:11,291,937...11,311,320
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcg2
ATP binding cassette subfamily G member 2 (JR blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20019844
NCBI chrNW_004955474:12,365,903...12,408,715
G
Bax
BCL2 associated X, apoptosis regulator
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9531611
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
G
Bcl10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9989495
NCBI chrNW_004955423:8,710,231...8,720,530
Ensembl chrNW_004955423:8,709,890...8,722,050
G
Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chrNW_004955438:20,562,345...20,637,662
Ensembl chrNW_004955438:20,564,449...20,637,103
G
Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
G
Card11
caspase recruitment domain family member 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25384343
RGD:11100039
NCBI chrNW_004955460:12,368,987...12,487,675
Ensembl chrNW_004955460:12,368,918...12,490,041
G
Ccnd3
cyclin D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004955437:8,266,523...8,273,855
Ensembl chrNW_004955437:8,268,118...8,273,855
G
Cnot3
CCR4-NOT transcription complex subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chrNW_004955604:109,522...122,001
Ensembl chrNW_004955604:109,340...122,001
G
Csf3r
colony stimulating factor 3 receptor
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:23604229 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 chrNW_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187
G
Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004955484:9,041,226...9,092,924
Ensembl chrNW_004955484:9,042,524...9,064,927
G
Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:26931577
RGD:11352292
NCBI chrNW_004955440:3,456,165...3,460,024
Ensembl chrNW_004955440:3,455,153...3,460,109
G
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)
RGD ClinVar
PMID:23341344 PMID:26072070
RGD:11041131 RGD:9589073
NCBI chrNW_004955469:7,264,431...7,367,059
Ensembl chrNW_004955469:7,269,952...7,367,059
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:22431509
RGD:10755340
NCBI chrNW_004955491:4,215,353...4,292,229
Ensembl chrNW_004955491:4,215,298...4,292,235
G
Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chrNW_004955471:6,852,459...7,026,590
Ensembl chrNW_004955471:6,848,101...6,955,881
G
Hmga1
high mobility group AT-hook 1
ISO
MouseDO
NCBI chrNW_004955437:2,478,414...2,486,809
Ensembl chrNW_004955437:2,478,414...2,486,809
G
Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892159
NCBI chrNW_004955426:20,785,896...20,818,512
Ensembl chrNW_004955426:20,787,471...20,818,577
G
Jak1
Janus kinase 1
ISO
DNA:missense mutation: :c.1972G>T (p.V658F) (human)
RGD
PMID:18559588
RGD:18936996
NCBI chrNW_004955423:25,501,989...25,581,826
Ensembl chrNW_004955423:25,524,075...25,580,604
G
Jak3
Janus kinase 3
ISO
RGD
PMID:25193870
RGD:11531122
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
G
Kras
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:23673656
RGD:11060136
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
G
Lmo1
LIM domain only 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:3259177 PMID:19246562
NCBI chrNW_004955414:24,021,275...24,072,098
Ensembl chrNW_004955414:24,021,218...24,061,183
G
Lmo2
LIM domain only 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:19246562 PMID:24394663
NCBI chrNW_004955422:12,354,865...12,362,026
Ensembl chrNW_004955422:12,354,845...12,362,470
G
Lyl1
LYL1 basic helix-loop-helix family member
ISO
OMIM
NCBI chrNW_004955415:32,121,808...32,124,730
Ensembl chrNW_004955415:32,121,808...32,124,730
G
Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
G
Myb
MYB proto-oncogene, transcription factor
ISO
ClinVar Annotator: match by term: MYB-related condition
ClinVar
PMID:28492532
NCBI chrNW_004955439:1,523,516...1,560,185
Ensembl chrNW_004955439:1,521,292...1,560,220
G
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818
G
Nbn
nibrin
ISO
MouseDO
NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133
G
Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
G
Nup98
nucleoporin 98 and 96 precursor
ISO
DNA:translocation:cds: (human)
RGD
PMID:10477737
RGD:9693698
NCBI chrNW_004955414:19,499,577...19,607,075
Ensembl chrNW_004955414:19,499,406...19,607,075
G
Pdgfra
platelet derived growth factor receptor alpha
ISO
RGD
PMID:24486648
RGD:11075087
NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
G
Phf6
PHD finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20228800
NCBI chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
G
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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
G
Ptpn2
protein tyrosine phosphatase non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20473312
NCBI chrNW_004955402:771,410...846,671
G
Rpl10
ribosomal protein L10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439
G
Rpl11
ribosomal protein L11
ISO
DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human)
RGD
PMID:23377281
RGD:11535972
NCBI chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209
G
Rpl5
ribosomal protein L5
ISO
DNA:snps, insertion, deletion:cds:multiple (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23263491
RGD:11535135
NCBI chrNW_004955423:1,748,809...1,758,622
Ensembl chrNW_004955423:1,748,809...1,758,622
G
Runx1
RUNX family transcription factor 1
disease_progression
ISO
RGD
PMID:21828118
RGD:11251708
NCBI chrNW_004955407:34,108,653...34,342,657
Ensembl chrNW_004955407:34,104,035...34,342,928
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397
G
Spi1
Spi-1 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671687
NCBI chrNW_004955422:873,735...886,560
Ensembl chrNW_004955422:873,735...886,560
G
Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
G
Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chrNW_004955464:11,304,611...11,317,420
Ensembl chrNW_004955464:11,310,628...11,315,924
G
Tcl1a
TCL1 family AKT coactivator A
ISO
mRNA:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:10077617
RGD:1599360
NCBI chrNW_004955438:16,934,650...16,952,926
G
Tlx1
T cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chrNW_004955485:9,070,601...9,076,063
G
Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chrNW_004955495:1,618,099...1,637,996
Ensembl chrNW_004955495:1,617,999...1,636,068
G
Zfp36l2
ZFP36 ring finger protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004955441:10,467,608...10,469,885
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cntn2
contactin 2
ISO
MouseDO
NCBI chrNW_004955406:40,831,897...40,862,445
Ensembl chrNW_004955406:40,831,850...40,858,569
G
Zeb2
zinc finger E-box binding homeobox 2
ISO
MouseDO
NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:29200404
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tcl1a
TCL1 family AKT coactivator A
ISO
OMIM
NCBI chrNW_004955438:16,934,650...16,952,926
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25658812
NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
G
Asxl3
ASXL transcriptional regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955402:20,571,209...20,704,480
Ensembl chrNW_004955402:20,605,804...20,702,054
G
Bcl6
BCL6 transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15375218
NCBI chrNW_004955420:19,998,960...20,021,200
Ensembl chrNW_004955420:19,998,742...20,022,259
G
Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chrNW_004955413:25,079,627...25,100,039
Ensembl chrNW_004955413:25,086,186...25,100,039
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
RGD
PMID:16462758 PMID:20369488
RGD:8547768 RGD:8662844
NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479
G
Ddx3x
DEAD-box helicase 3 X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955565:1,387,043...1,403,624
Ensembl chrNW_004955565:1,386,973...1,404,220
G
Egr1
early growth response 1
ISO
RGD
PMID:17420284
RGD:5131859
NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
G
Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933
G
Fgfr1
fibroblast growth factor receptor 1
ISO
RGD
PMID:19506298
RGD:11352666
NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
G
Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
G
Ier3
immediate early response 3
ISO
human gene in a mouse model
RGD
PMID:14534530
RGD:1331843
NCBI chrNW_004955583:730,353...731,301
Ensembl chrNW_004955583:730,289...731,260
G
Il13
interleukin 13
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chrNW_004955408:4,046,406...4,049,795
G
Il13ra2
interleukin 13 receptor subunit alpha 2
treatment
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chrNW_004955490:708,144...758,195
Ensembl chrNW_004955490:709,446...758,272
G
Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chrNW_004955497:1,499,700...1,506,557
G
Jak3
Janus kinase 3
treatment
ISO
RGD
PMID:24153015
RGD:11531129
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
G
Kdm1a
lysine demethylase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chrNW_004955452:3,044,042...3,104,650
Ensembl chrNW_004955452:3,044,264...3,104,418
G
Kdm2b
lysine demethylase 2B
ISO
DNA:insertions:promoter:multiple (rat)
RGD
PMID:18250326
RGD:9588252
NCBI chrNW_004955482:6,774,021...6,885,113
Ensembl chrNW_004955482:6,774,059...6,887,171
G
Kdm4c
lysine demethylase 4C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chrNW_004955434:10,646,524...11,000,589
Ensembl chrNW_004955434:10,685,704...11,000,644
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
G
Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955416:8,416,236...8,566,371
Ensembl chrNW_004955416:8,471,134...8,563,842
G
Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255338
NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24584070
NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
G
Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
G
Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chrNW_004955466:10,543,331...10,600,990
Ensembl chrNW_004955466:10,543,331...10,600,990
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20369488 PMID:26192917 PMID:29438700
RGD:8547768
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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CUNH11orf65
chromosome unknown C11orf65 homolog
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 chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
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Jak3
Janus kinase 3
ISO
DNA:missense mutations:exon:pM511I, p.R657Q (human)
RGD
PMID:24446122
RGD:11531125
NCBI chrNW_004955524:3,399,895...3,412,018
Ensembl chrNW_004955524:3,401,642...3,411,643
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chrNW_004955451:16,253,645...16,295,337
Ensembl chrNW_004955451:16,255,398...16,272,214
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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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 chrNW_004955427:25,553,589...25,557,654
Ensembl chrNW_004955427:25,553,589...25,559,138
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Btk
Bruton tyrosine kinase
ameliorates
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia Human gene in mouse model human gene in a mouse model
ClinVar RGD OMIM
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:15142874 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:20574453 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 More...
RGD:124713551 RGD:124715475
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
OMIM:300310 | OMIM:300755
MouseDO
NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
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Timm8a
translocase of inner mitochondrial membrane 8A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia
ClinVar
PMID:25741868
NCBI chrNW_004955503:7,480,075...7,483,218
Ensembl chrNW_004955503:7,480,075...7,483,218
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked
ClinVar
PMID:8758136
NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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 chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
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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 chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
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LOC102020494
cytochrome c oxidase subunit 7B, mitochondrial
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:24550228 PMID:28492532
NCBI chrNW_004955557:1,341,934...1,348,610
Ensembl chrNW_004955557:1,341,934...1,348,610
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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 chrNW_004955557:1,294,408...1,336,164
Ensembl chrNW_004955557:1,290,615...1,336,198
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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 chrNW_004955557:1,566,534...1,584,799
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked
ClinVar
PMID:25741868
NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579
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Sh2d1a
SH2 domain containing 1A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition
OMIM ClinVar
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 chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
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Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked
ClinVar
PMID:25741868
NCBI chrNW_004955545:2,881,954...2,891,021
Ensembl chrNW_004955545:2,881,563...2,891,509
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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 chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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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 chrNW_004955473:11,283,642...11,574,836
Ensembl chrNW_004955473:11,281,379...11,574,907
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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 chrNW_004955473:10,345,407...10,370,535
Ensembl chrNW_004955473:10,346,943...10,370,575
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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 chrNW_004955473:10,620,264...10,765,806
Ensembl chrNW_004955473:10,626,626...10,709,167
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Thoc2
THO complex 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 chrNW_004955473:11,029,860...11,143,493
Ensembl chrNW_004955473:11,029,714...11,144,880
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Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked
OMIM ClinVar
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:30697212 PMID:30755392 PMID:31754776 PMID:32542393 More...
NCBI chrNW_004955473:10,823,795...10,878,256
Ensembl chrNW_004955473:10,827,435...10,840,604
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