RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: lymphatic system disease
Accession: DOID:75
browse the term
Definition: An immune system disease that is located_in the lymphatic system. (DO)
Synonyms: exact_synonym: disease of lympoid system; disorder of lymph node and lymphatics; disorder of lymphatic system; disorder of lymphoid system; lymphangiopathy; lymphatic disease; lymphatic diseases; lymphatic disorder; lymphatism; lympoid system disease; status lymphaticus
primary_id: MESH:D008206
xref: EFO:0007352
For additional species annotation, visit the
Alliance of Genome Resources .
GViewer not supported for the selected species.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Lgmn
legumain
ISO
MouseDO
NCBI chrNW_004624734:9,207,496...9,240,026
Ensembl chrNW_004624734:9,204,790...9,240,309
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12223415
NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
G
Six1
SIX homeobox 1
ISO
RGD
PMID:21364285
RGD:11561941
NCBI chrNW_004624734:40,453,445...40,457,551
Ensembl chrNW_004624734:40,453,420...40,459,671
G
Tbx1
T-box transcription factor 1
ISO
RGD
PMID:16452092
RGD:155663362
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Unc45a
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624768:17,300,913...17,315,848
Ensembl chrNW_004624768:17,301,277...17,314,353
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_004624828:6,648,403...6,697,617
Ensembl chrNW_004624828:6,650,762...6,697,879
G
Rnf20
ring finger protein 20
disease_progression
ISO
RGD
PMID:23412334
RGD:9831405
NCBI chrNW_004624758:9,759,535...9,783,235
Ensembl chrNW_004624758:9,758,101...9,783,411
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_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abcc2
ATP binding cassette subfamily C member 2
treatment
ISO
DNA:SNP:5'UTR:rs717620(human) DNA:SNPs: :rs717620(human)
RGD
PMID:24404132 PMID:25007187
RGD:11080959 RGD:11080979
NCBI chrNW_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11984797 PMID:21898527
NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491
G
Aicda
activation induced cytidine deaminase
treatment
ISO
RGD
PMID:19759560
RGD:11039451
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684603 PMID:19684604
NCBI chrNW_004624791:1,610,169...1,785,512
Ensembl chrNW_004624791:1,610,169...1,785,477
G
Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chrNW_004624772:18,949,221...19,016,672
Ensembl chrNW_004624772:18,949,108...19,015,504
G
Bax
BCL2 associated X, apoptosis regulator
ISO
OMIM
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
G
Bcl2
BCL2 apoptosis regulator
severity
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:25982455
RGD:11076595
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
G
Bcr
BCR activator of RhoGEF and GTPase
ISO
OMIM
NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131
G
Casp8
caspase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22010212
NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
G
Cast
calpastatin
ISO
protein:increased expresssion:B cell
RGD
PMID:11264179
RGD:5509822
NCBI chrNW_004624743:15,265,930...15,405,904
Ensembl chrNW_004624743:15,346,837...15,403,150
G
Ccnd1
cyclin D1
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:22391157
RGD:11352824
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:9292526
RGD:11352271
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Cd46
CD46 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:16353080
RGD:11352810
NCBI chrNW_004624807:4,040,639...4,074,631
G
Cd79b
CD79b molecule
ISO
protein:decreased expression:bone marrow, mononuclear cell (human)
RGD
PMID:21487112
RGD:11250414
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)
RGD
PMID:24283754
RGD:11354967
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
G
Cdk6
cyclin dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24736461
NCBI chrNW_004624809:349,453...588,986
Ensembl chrNW_004624809:349,404...579,599
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440
G
Cebpe
CCAAT enhancer binding protein epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19684604
NCBI chrNW_004624820:9,423,725...9,425,338
Ensembl chrNW_004624820:9,423,725...9,425,338
G
Cfb
complement factor B
ISO
DNA:missense mutation:p.R32Q b(human)
RGD
PMID:6958349
RGD:11041155
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
G
Crebbp
CREB binding protein
disease_progression
ISO
DNA:mutations:multiple
RGD
PMID:25917266
RGD:11060149
NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
G
Crlf2
cytokine receptor like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chrNW_004624834:596,067...610,333
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:9250830
RGD:11039038
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
G
Cspg4
chondroitin sulfate proteoglycan 4
severity
ISO
RGD
PMID:8562939
RGD:734840
NCBI chrNW_004624894:564,252...595,048
Ensembl chrNW_004624894:561,683...594,878
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_004624743:1,446,643...1,462,319
Ensembl chrNW_004624743:1,446,643...1,461,863
G
Dnmt3a
DNA methyltransferase 3 alpha
treatment
ISO
DNA:mutations:exon, intron:p.R882(human)
RGD
PMID:25242092
RGD:11041125
NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
G
Dntt
DNA nucleotidylexotransferase
ISO
protein:increased activity:peripheral blood,bone marrow:
RGD
PMID:7020399
RGD:8694149
NCBI chrNW_004624737:7,714,577...7,755,798
Ensembl chrNW_004624737:7,714,577...7,755,605
G
Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780
G
Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32889036
NCBI chrNW_004624754:24,354,271...24,368,319
Ensembl chrNW_004624754:24,354,284...24,368,638
G
Eng
endoglin
disease_progression
ISO
RGD
PMID:17572488
RGD:11041565
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
G
Ephx1
epoxide hydrolase 1
susceptibility no_association
ISO
DNA:missense mutation, haplotype:exon:p.Y113H (human) DNA:missense mutation, haplotype:exon:p.H139R (human) DNA:polymorphisms:exon DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568
RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114
NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714
G
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_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
no_association
ISO
DNA:missense mutations: :p.D312N, p.K751Q (human) DNA:haplotype
RGD
PMID:19101034 PMID:21987080
RGD:11252192 RGD:11340201
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
G
Erg
ETS transcription factor ERG
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:27993330
NCBI chrNW_004624745:25,239,356...25,457,533
Ensembl chrNW_004624745:25,294,832...25,459,683
G
Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Acute lymphoid leukemia
ClinVar
PMID:26102509
NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196
G
F3
coagulation factor III, tissue factor
ISO
RGD
PMID:8429686
RGD:11340211
NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301
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_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Fga
fibrinogen alpha chain
ISO
protein:increased expression:serum (human)
RGD
PMID:25317080
RGD:11040558
NCBI chrNW_004624858:5,848,817...5,856,448
G
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:14604974 PMID:14670924 PMID:15256420 PMID:16857985 PMID:17606455 PMID:17889720 PMID:19657110 PMID:20733134 PMID:22368270 PMID:22504183 PMID:22504184 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:24046014 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066
G
Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25013492
NCBI chrNW_004624760:7,735,606...7,754,750
Ensembl chrNW_004624760:7,735,613...7,754,994
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35115686
NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392
G
Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chrNW_004624760:3,446,028...3,454,818
Ensembl chrNW_004624760:3,446,028...3,454,818
G
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_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433
G
Gpi
glucose-6-phosphate isomerase
ISO
RGD
PMID:6589021
RGD:11051848
NCBI chrNW_004624794:8,826,281...8,851,614
Ensembl chrNW_004624794:8,823,449...8,851,625
G
Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:17317918 PMID:24698347
RGD:11352774 RGD:11352812
NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626
G
Gsr
glutathione-disulfide reductase
ISO
RGD
PMID:24191316
RGD:11059506
NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535
G
Hck
HCK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17344919
NCBI chrNW_004624741:456,186...494,207
Ensembl chrNW_004624741:455,696...493,821
G
Hdac1
histone deacetylase 1
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025
G
Hdac2
histone deacetylase 2
disease_progression
ISO
mRNA:increased expression:bone marrow,blood:
RGD
PMID:23948281
RGD:9681454
NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592
G
Hdac4
histone deacetylase 4
treatment
ISO
RGD
PMID:23948281
RGD:9681454
NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487
G
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_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376
G
Hk1
hexokinase 1
ISO
protein:decreased activity:platelet
RGD
PMID:21921332
RGD:11353881
NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760
G
Hlf
HLF transcription factor, PAR bZIP family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chrNW_004624795:10,520,106...10,573,206
Ensembl chrNW_004624795:10,520,044...10,573,328
G
Hoxd4
homeobox D4
ISO
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
ClinVar
PMID:15776434
NCBI chrNW_004624787:13,290,250...13,296,315
Ensembl chrNW_004624787:13,290,703...13,296,311
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chrNW_004624765:7,806,560...7,825,520
G
Ifng
interferon gamma
susceptibility
ISO
DNA:SNP: :rs2069727(human)
RGD
PMID:21067287
RGD:10755691
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
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_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841
G
Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004624765:3,016,569...3,171,443
Ensembl chrNW_004624765:3,017,571...3,164,136
G
Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004624795:3,222,170...3,347,079
Ensembl chrNW_004624795:3,290,078...3,345,533
G
Il10
interleukin 10
treatment
ISO
protein:decreased expression:blood
RGD
PMID:15860861 PMID:21653647
RGD:11049158 RGD:11049169
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Irf4
interferon regulatory factor 4
ISO
DNA:SNP:intron:rs12203592 (human)
RGD
PMID:19897031
RGD:11526162
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
G
Itpa
inosine triphosphatase
no_association treatment
ISO
DNA:SNP:intron DNA:SNPs:exon:94C>A, 138G>A (human)
RGD
PMID:22009189
RGD:10766474
NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825
G
Kdm2b
lysine demethylase 2B
ISO
mRNA:increased expression:bone marrow (human)
RGD
PMID:21310926
RGD:9588255
NCBI chrNW_004624747:21,922,249...22,047,246
G
Kdm3b
lysine demethylase 3B
ISO
protein:increased expression:bone marrow, mononuclear cell (human)
RGD
PMID:22615488
RGD:9586728
NCBI chrNW_004624743:31,148,051...31,224,896
Ensembl chrNW_004624743:31,148,098...31,225,992
G
Kdm6a
lysine demethylase 6A
severity
ISO
DNA:mutations:cds:multiple (human)
RGD
PMID:22377896
RGD:9684944
NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186
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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_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:17910045 PMID:25917266
RGD:11060148 RGD:11060149
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Lmo2
LIM domain only 2
ISO
OMIM:247640 | OMIM:613065
MouseDO
NCBI chrNW_004624767:13,245,783...13,257,322
Ensembl chrNW_004624767:13,245,984...13,257,440
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LOC101701066
cytochrome P450 1B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22674224
NCBI chrNW_004624738:19,639,215...19,647,807
Ensembl chrNW_004624738:19,638,456...19,647,497
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms, haplotypes:cds:multiple DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)
RGD
PMID:9744491 PMID:22434102
RGD:11041749 RGD:11041762
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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LOC101707509
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_004627988:7...1,323
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LOC101717043
cytochrome b-245 light chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell:
RGD
PMID:19222940
RGD:11040545
NCBI chrNW_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362
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LOC101722366
cytochrome P450 2E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11774269
NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514
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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_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678
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Mthfr
methylenetetrahydrofolate reductase
treatment disease_progression
ISO
DNA:missense mutation:cds:677C>T (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
RGD CTD
PMID:16706930 PMID:19923983 PMID:21644011
RGD:10449398 RGD:10449407
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility no_association disease_progression
ISO
DNA:polymorphism: :2756A>G(human) DNA:polymorphism: :66A>G(human) DNA:SNP::rs10925235(human)
RGD
PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150
RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141
NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human) DNA:haplotype:cds:
CTD RGD
PMID:17136115 PMID:23940529
RGD:11531133 RGD:11531135
NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:25784651
RGD:11532748
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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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
OMIM ClinVar
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_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708
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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_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
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Notch3
notch receptor 3
ISO
OMIM:247640 | OMIM:613065
MouseDO
NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
DNA:mutation: :609C>T (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
RGD CTD
PMID:11774269 PMID:17332311 PMID:18444911
RGD:10769347 RGD:10769359
NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:missense mutation:cds:
RGD
PMID:25204082
RGD:11535045
NCBI chrNW_004624772:10,358,554...10,369,371
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24076604
NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204
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Nt5c2
5'-nucleotidase, cytosolic II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23377183
NCBI chrNW_004624831:2,374,341...2,468,819
Ensembl chrNW_004624831:2,371,804...2,529,726
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Nup214
nucleoporin 214
ISO
OMIM
NCBI chrNW_004624760:4,655,347...4,738,811
Ensembl chrNW_004624760:4,655,247...4,739,298
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P2ry8
P2Y receptor family member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19838194
NCBI chrNW_004624834:686,801...708,251
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Pag1
phosphoprotein membrane anchor with glycosphingolipid microdomains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004624744:10,286,013...10,431,383
Ensembl chrNW_004624744:10,361,284...10,424,207
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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_004624930:491,220...660,476
Ensembl chrNW_004624930:491,892...667,530
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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_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
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Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
mRNA:increased expression:blood (human)
RGD
PMID:27275197
RGD:11535025
NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222
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Prdm14
PR/SET domain 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19043588
NCBI chrNW_004624744:21,092,091...21,121,313
Ensembl chrNW_004624744:21,104,798...21,120,591
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Pten
phosphatase and tensin homolog
ISO
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
MouseDO
NCBI chrNW_004624791:13,975,235...14,056,900
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255265
NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944
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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_004624807:7,079,944...7,086,973
Ensembl chrNW_004624807:7,079,090...7,087,215
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
OMIM
NCBI chrNW_004624859:5,586,489...5,601,225
Ensembl chrNW_004624859:5,586,977...5,601,460
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Tal2
TAL bHLH transcription factor 2
ISO
OMIM
NCBI chrNW_004624758:5,750,458...5,755,861
Ensembl chrNW_004624758:5,747,765...5,863,612
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214592
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
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Tcn2
transcobalamin 2
ISO
protein:altered activity:plasma:
RGD
PMID:8754152
RGD:11059889
NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440
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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_004624751:624,569...647,198
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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_004624793:11,515,047...11,644,073
Ensembl chrNW_004624793:11,511,446...11,579,008
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334668
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Tpmt
thiopurine S-methyltransferase
treatment no_association
ISO
DNA:SNPs:multiple DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs: :multiple
RGD
PMID:17164697 PMID:22009189 PMID:24499706
RGD:10766474 RGD:11038720 RGD:11038723
NCBI chrNW_004624756:8,511,275...8,532,100
Ensembl chrNW_004624756:8,511,315...8,531,745
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Ttc12
tetratricopeptide repeat domain 12
ISO
DNA:hypermethylation:5'end:CpG dinucleotide
RGD
PMID:17657212
RGD:405866376
NCBI chrNW_004624784:8,655,543...8,751,307
Ensembl chrNW_004624784:8,655,408...8,752,397
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Tyms
thymidylate synthetase
treatment
ISO
DNA:repeats: : rs347430033(human)
RGD
PMID:25007187
RGD:11080979
NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600
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Xrcc1
X-ray repair cross complementing 1
susceptibility no_association
ISO
DNA:missense mutation, haplotype: :p.R399Q (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.R194W (human) DNA:missense mutation: :p.R399Q (human)
RGD CTD
PMID:19101034 PMID:21983886
RGD:11252110 RGD:11252192
NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:18615627 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:25157968 PMID:25686603 PMID:25741868 PMID:36063163 More...
NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491
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Crlf2
cytokine receptor like factor 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272
NCBI chrNW_004624834:596,067...610,333
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Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156
NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:22897847 PMID:22955920
NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859
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Insl6
insulin like 6
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chrNW_004624736:9,838,781...9,848,514
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 PMID:21436584 PMID:21680795 PMID:22955920 PMID:25352124 PMID:28111307 More...
NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: LYMPHOMATOUS ALL
ClinVar
PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 PMID:21599579 PMID:21821710 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aqp1
aquaporin 1 (Colton blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535
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Arid4b
AT-rich interaction domain 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624775:15,152,840...15,300,160
Ensembl chrNW_004624775:15,152,950...15,301,078
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624791:1,610,169...1,785,512
Ensembl chrNW_004624791:1,610,169...1,785,477
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Aspm
assembly factor for spindle microtubules
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624798:3,164,145...3,223,810
Ensembl chrNW_004624798:3,165,393...3,225,181
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Atr
ATR serine/threonine kinase
treatment
ISO
RGD
PMID:32001675
RGD:150340693
NCBI chrNW_004624730:19,022,012...19,145,474
Ensembl chrNW_004624730:19,022,070...19,145,306
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532
NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400
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Bcor
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873
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Bcorl1
BCL6 corepressor like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624797:9,211,625...9,283,435
Ensembl chrNW_004624797:9,240,209...9,282,020
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Brca1
BRCA1 DNA repair associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
G
Brd1
bromodomain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624752:811,457...853,702
Ensembl chrNW_004624752:811,451...854,039
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581
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Cmtr2
cap methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624746:13,475,463...13,484,063
Ensembl chrNW_004624746:13,475,816...13,484,046
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Cntn6
contactin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624773:11,059,466...11,417,825
Ensembl chrNW_004624773:11,059,333...11,417,733
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624809:9,585,426...9,794,582
Ensembl chrNW_004624809:9,586,225...9,793,208
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Dtl
denticleless E3 ubiquitin protein ligase homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624771:17,612,264...17,660,772
Ensembl chrNW_004624771:17,612,284...17,662,405
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Dtx4
deltex E3 ubiquitin ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624864:1,475,383...1,502,047
Ensembl chrNW_004624864:1,478,059...1,498,066
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Efhd1
EF-hand domain family member D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624843:5,346,767...5,377,596
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En1
engrailed homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624732:26,333,642...26,338,450
Ensembl chrNW_004624732:26,333,653...26,337,904
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Erbin
erbb2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624815:3,765,261...3,901,309
Ensembl chrNW_004624815:3,768,207...3,852,815
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Espl1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624904:1,305,040...1,330,505
Ensembl chrNW_004624904:1,305,000...1,330,761
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Fanca
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624746:206,069...253,473
Ensembl chrNW_004624746:215,193...252,569
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624769:17,801,796...17,924,685
Ensembl chrNW_004624769:17,801,894...17,925,191
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:26619011
NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336
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Fgf16
fibroblast growth factor 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624836:3,521,170...3,541,844
Ensembl chrNW_004624836:3,521,243...3,541,824
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:26619011
NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529
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Fgfr4
fibroblast growth factor receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624733:12,964,893...12,979,198
Ensembl chrNW_004624733:12,964,746...12,976,732
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374
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Foxp2
forkhead box P2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624827:4,813,203...5,086,326
Ensembl chrNW_004624827:4,817,092...5,086,488
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Gas2
growth arrest specific 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624766:13,610,229...13,741,604
Ensembl chrNW_004624766:13,612,702...13,741,606
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Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624793:385,846...410,934
Ensembl chrNW_004624793:385,812...410,934
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Gins2
GINS complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624746:2,109,655...2,116,957
Ensembl chrNW_004624746:2,109,667...2,116,925
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624848:2,522,935...2,588,758
Ensembl chrNW_004624848:2,525,153...2,560,025
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H1-4
H1.4 linker histone, cluster member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624756:771,688...772,950
Ensembl chrNW_004624756:772,241...772,903
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Homer3
homer scaffold protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624908:1,970,739...1,977,750
Ensembl chrNW_004624908:1,971,064...1,976,152
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chrNW_004624765:7,806,560...7,825,520
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Igfbp2
insulin like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624823:8,460,968...8,486,495
Ensembl chrNW_004624823:8,460,553...8,486,495
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Il17rd
interleukin 17 receptor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624822:150,955...219,939
Ensembl chrNW_004624822:150,992...214,107
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Insrr
insulin receptor related receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231
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Irx4
iroquois homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624751:913,127...916,583
Ensembl chrNW_004624751:913,691...916,842
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Isyna1
inositol-3-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624908:1,658,512...1,661,507
Ensembl chrNW_004624908:1,658,512...1,661,640
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Itgb4
integrin subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624801:5,613,752...5,646,046
Ensembl chrNW_004624801:5,613,861...5,650,214
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Jag1
jagged canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:14615376 PMID:16843266 PMID:17252020 PMID:17433830 PMID:22237106 PMID:22425895 PMID:23832011 PMID:24446122 PMID:25595890 PMID:28492532 PMID:33040328 PMID:35482138 More...
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
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Jmjd1c
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624791:306,827...589,134
Ensembl chrNW_004624791:365,726...588,870
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Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624849:2,129,154...2,317,640
Ensembl chrNW_004624849:2,129,357...2,319,538
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Kat6a
lysine acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072
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Kdm6a
lysine demethylase 6A
exacerbates
ISO
CTD Direct Evidence: marker/mechanism DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human) DNA:mutations:multiple: (human)
CTD RGD
PMID:23685749 PMID:31483290
RGD:150429732 RGD:150429736
NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186
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Kdm6b
lysine demethylase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624786:10,413,670...10,435,118
Ensembl chrNW_004624786:10,425,816...10,433,806
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Kmt2c
lysine methyltransferase 2C
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23685749 PMID:31483290
RGD:150429736
NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 PMID:26242988 PMID:28492532 More...
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624904:655,192...681,046
Ensembl chrNW_004624904:655,080...681,112
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
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Magi1
membrane associated guanylate kinase, WW and PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624888:46,089...686,823
Ensembl chrNW_004624888:46,214...687,291
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624739:27,132,533...28,430,765
Ensembl chrNW_004624739:27,134,993...28,430,686
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Maml3
mastermind like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624777:19,928,442...20,353,784
Ensembl chrNW_004624777:19,927,024...20,093,002
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Map2k2
mitogen-activated protein kinase kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624856:4,966,545...4,970,226
Ensembl chrNW_004624856:4,967,732...4,969,754
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Mark2
microtubule affinity regulating kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624767:22,346,467...22,419,325
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chrNW_004624730:47,104,929...47,693,885
Ensembl chrNW_004624730:47,104,319...47,284,839
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868
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Mier2
MIER family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624828:8,030,391...8,054,349
Ensembl chrNW_004624828:8,036,450...8,052,151
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Mlc1
modulator of VRAC current 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624752:653,224...675,875
Ensembl chrNW_004624752:654,076...675,863
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Morf4l1
mortality factor 4 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624941:50,651...71,380
Ensembl chrNW_004624941:50,840...70,767
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749 PMID:26829750
NCBI chrNW_004624886:2,455,704...2,489,593
G
Mybl1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624744:24,736,813...24,775,427
Ensembl chrNW_004624744:24,736,861...24,770,884
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Mycbp
MYC binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624764:21,478,838...21,486,545
G
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624865:780,163...785,776
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Neto2
neuropilin and tolloid like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624914:636,348...690,708
Ensembl chrNW_004624914:636,417...690,694
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Nfib
nuclear factor I B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624736:18,372,418...18,586,390
Ensembl chrNW_004624736:18,377,624...18,586,424
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624733:12,781,693...12,929,861
Ensembl chrNW_004624733:12,786,347...12,927,980
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Ntrk3
neurotrophic receptor tyrosine kinase 3
treatment
ISO
RGD
PMID:23027130
RGD:150519921
NCBI chrNW_004624768:15,239,111...15,619,979
Ensembl chrNW_004624768:15,252,354...15,619,601
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624893:632,514...636,656
Ensembl chrNW_004624893:632,930...636,664
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Pdzk1
PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624772:17,023,837...17,057,160
Ensembl chrNW_004624772:17,022,967...17,057,447
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:29446767 PMID:34008892 More...
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624735:7,534,483...7,702,079
Ensembl chrNW_004624735:7,534,506...7,700,305
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624791:13,975,235...14,056,900
G
Pygb
glycogen phosphorylase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624939:273,448...302,604
Ensembl chrNW_004624939:270,652...302,608
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Rbfox2
RNA binding fox-1 homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624752:11,766,033...12,027,804
Ensembl chrNW_004624752:11,765,679...12,022,320
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Serpinf1
serpin family F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
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Sf3b1
splicing factor 3b subunit 1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chrNW_004624889:2,796,351...2,835,592
G
Slc24a3
solute carrier family 24 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624741:19,808,186...20,298,772
Ensembl chrNW_004624741:19,808,255...20,297,056
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Slc3a2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chrNW_004624926:1,301,866...1,314,598
Ensembl chrNW_004624926:1,301,584...1,315,707
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chrNW_004624746:1,325,368...1,349,616
G
Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809
G
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719
G
Smarce1
SWI/SNF related BAF chromatin remodeling complex subunit E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961
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Smc1a
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624909:617,015...668,513
Ensembl chrNW_004624909:630,062...668,512
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Son
SON DNA and RNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624745:21,762,273...21,798,587
Ensembl chrNW_004624745:21,763,010...21,797,817
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Sox11
SRY-box transcription factor 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624846:4,043,010...4,046,660
Ensembl chrNW_004624846:4,044,893...4,046,248
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Sox4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624756:5,128,848...5,156,174
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Srcap
Snf2 related CREBBP activator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624782:13,818,019...13,862,379
Ensembl chrNW_004624782:13,817,999...13,862,046
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St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624812:503,703...551,907
Ensembl chrNW_004624812:509,841...553,894
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Tlk1
tousled like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624787:8,489,175...8,651,626
Ensembl chrNW_004624787:8,489,175...8,651,614
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Tp53
tumor protein p53
disease_progression
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
RGD ClinVar
PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 PMID:7885831 PMID:8023157 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:10871862 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:14559903 PMID:16249115 PMID:16322298 PMID:16494995 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18818522 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23259501 PMID:23625637 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25293557 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:27276561 PMID:27463065 PMID:27489289 PMID:27533082 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29076966 PMID:29324801 PMID:29470806 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30630526 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31775759 PMID:32019277 PMID:33300245 PMID:33332384 PMID:33372952 PMID:34805717 More...
RGD:8547828
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Uhrf1
ubiquitin like with PHD and ring finger domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chrNW_004624828:4,898,786...4,929,136
Ensembl chrNW_004624828:4,898,677...4,929,872
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Vcan
versican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624743:3,635,086...3,743,332
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Wnt5b
Wnt family member 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624735:11,222,339...11,326,480
Ensembl chrNW_004624735:11,223,227...11,236,609
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Xrn2
5'-3' exoribonuclease 2
ISO
DNA:hypermethylation:3' utr: (human)
RGD
PMID:21692051
RGD:11041796
NCBI chrNW_004624741:21,691,099...21,768,267
Ensembl chrNW_004624741:21,691,199...21,767,790
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Zim2
zinc finger imprinted 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chrNW_004624832:1,233,119...1,237,814
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Hnf1a
HNF1 homeobox A
ISO
RGD
PMID:10489374
RGD:150540314
NCBI chrNW_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ada
adenosine deaminase
ISO
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_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883
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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_004624790:9,744,127...9,755,685
Ensembl chrNW_004624790:9,744,078...9,755,375
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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_004624826:5,504,676...5,574,037
Ensembl chrNW_004624826:5,505,569...5,573,783
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Cd3e
CD3e molecule
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624784:13,714,667...13,726,881
Ensembl chrNW_004624784:13,712,920...13,726,950
G
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_004624784:13,738,424...13,748,311
Ensembl chrNW_004624784:13,738,686...13,748,415
G
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_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
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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_004624790:8,369,972...8,437,595
Ensembl chrNW_004624790:8,369,964...8,438,683
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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_004624790:8,686,027...8,692,119
Ensembl chrNW_004624790:8,686,027...8,691,898
G
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_004624790:9,091,461...9,095,889
Ensembl chrNW_004624790:9,091,461...9,095,722
G
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_004624790:8,761,077...8,789,728
Ensembl chrNW_004624790:8,761,075...8,789,711
G
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_004624790:8,228,234...8,266,585
Ensembl chrNW_004624790:8,228,259...8,267,179
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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_004624790:10,150,070...10,156,194
Ensembl chrNW_004624790:10,149,601...10,153,411
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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_004624790:10,164,395...10,188,812
Ensembl chrNW_004624790:10,164,395...10,188,801
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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_004624790:10,620,586...10,621,394
G
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_004624790:10,039,344...10,065,167
Ensembl chrNW_004624790:10,038,999...10,100,649
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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_004624790:10,674,002...10,726,292
Ensembl chrNW_004624790:10,678,911...10,726,265
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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_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
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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_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110
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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_004624790:9,721,178...9,727,005
Ensembl chrNW_004624790:9,721,364...9,726,830
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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_004624790:9,399,267...9,405,503
Ensembl chrNW_004624790:9,399,965...9,407,376
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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_004624790:9,182,374...9,194,235
Ensembl chrNW_004624790:9,182,847...9,194,384
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency
ClinVar
PMID:20566584 PMID:22187299 PMID:24033266 PMID:25326637 PMID:25637381 PMID:25741868 PMID:28492532 PMID:30820182 PMID:32901291 More...
NCBI chrNW_004624767:21,579,084...21,585,380
Ensembl chrNW_004624767:21,579,103...21,585,373
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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_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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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_004624790:10,629,771...10,665,187
Ensembl chrNW_004624790:10,630,158...10,664,982
G
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_004624790:8,503,605...8,538,243
Ensembl chrNW_004624790:8,503,611...8,538,238
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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_004624790:8,692,232...8,694,648
Ensembl chrNW_004624790:8,692,235...8,694,648
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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_004624790:8,110,491...8,116,657
G
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_004624790:10,228,671...10,244,275
G
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_004624790:9,545,719...9,572,447
Ensembl chrNW_004624790:9,545,145...9,570,872
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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_004624790:8,647,292...8,660,138
Ensembl chrNW_004624790:8,647,317...8,660,080
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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_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959
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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_004624790:9,829,686...9,936,336
Ensembl chrNW_004624790:9,829,686...9,871,564
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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_004624790:8,673,212...8,686,094
Ensembl chrNW_004624790:8,673,089...8,685,942
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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_004624790:10,104,966...10,116,118
Ensembl chrNW_004624790:10,102,516...10,115,267
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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_004624767:10,694,867...10,698,041
Ensembl chrNW_004624767:10,694,867...10,698,001
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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_004624767:10,678,547...10,680,130
Ensembl chrNW_004624767:10,678,359...10,680,132
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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_004624790:9,173,059...9,185,271
Ensembl chrNW_004624790:9,173,653...9,184,378
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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_004624790:9,654,266...9,720,522
Ensembl chrNW_004624790:9,658,850...9,721,084
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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_004624790:9,146,371...9,166,729
Ensembl chrNW_004624790:9,145,745...9,169,526
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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_004624790:9,951,067...9,983,251
Ensembl chrNW_004624790:9,951,233...9,980,234
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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_004624790:8,539,103...8,576,877
Ensembl chrNW_004624790:8,537,185...8,576,861
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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_004624790:8,028,054...8,104,123
Ensembl chrNW_004624790:8,028,103...8,105,871
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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_004624790:7,967,398...7,982,312
Ensembl chrNW_004624790:7,966,694...7,982,367
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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_004624790:8,268,219...8,281,085
Ensembl chrNW_004624790:8,268,220...8,281,912
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Slpi
secretory leukocyte peptidase inhibitor
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chrNW_004624790:9,235,830...9,238,562
Ensembl chrNW_004624790:9,235,650...9,239,231
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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_004624790:8,722,730...8,745,770
Ensembl chrNW_004624790:8,737,721...8,745,860
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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_004624790:8,695,832...8,697,063
Ensembl chrNW_004624790:8,695,898...8,697,323
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Spint4
serine peptidase inhibitor, Kunitz type 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chrNW_004624790:8,812,003...8,818,205
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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_004624790:9,415,172...9,521,103
Ensembl chrNW_004624790:9,415,177...9,521,051
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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_004624790:9,121,986...9,127,485
Ensembl chrNW_004624790:9,120,280...9,127,567
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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_004624790:9,523,612...9,542,475
Ensembl chrNW_004624790:9,523,111...9,543,154
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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_004624790:10,339,928...10,467,855
Ensembl chrNW_004624790:10,339,858...10,467,837
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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_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639
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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_004624790:9,084,921...9,115,285
Ensembl chrNW_004624790:9,110,692...9,116,287
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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_004624790:9,986,075...9,999,838
Ensembl chrNW_004624790:9,989,546...10,004,122
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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_004624790:8,756,758...8,760,078
Ensembl chrNW_004624790:8,751,662...8,760,057
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Wfdc10a
WAP four-disulfide core domain 10A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chrNW_004624790:8,832,808...8,836,126
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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_004624790:8,928,002...8,934,503
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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_004624790:8,789,875...8,800,843
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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_004624790:9,386,787...9,393,060
Ensembl chrNW_004624790:9,387,902...9,393,179
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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_004624790:8,859,310...8,868,261
Ensembl chrNW_004624790:8,860,940...8,868,261
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Wfdc9
WAP four-disulfide core domain 9
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:26255240 PMID:26376800 PMID:28492532
NCBI chrNW_004624790:8,844,701...8,846,216
Ensembl chrNW_004624790:8,844,701...8,846,594
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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_004624790:9,574,003...9,593,821
Ensembl chrNW_004624790:9,574,027...9,593,825
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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_004624790:8,624,316...8,646,712
Ensembl chrNW_004624790:8,625,150...8,647,441
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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_004624790:8,698,022...8,702,316
Ensembl chrNW_004624790:8,698,522...8,702,186
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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_004624790:8,703,660...8,720,300
Ensembl chrNW_004624790:8,703,675...8,720,270
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Birc5
baculoviral IAP repeat containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16497974
NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18688853
NCBI chrNW_004624756:17,742,822...17,894,931
Ensembl chrNW_004624756:17,743,834...17,894,753
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Card11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180
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Ccr7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897
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Cd163
CD163 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
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Cd274
CD274 molecule
disease_progression
ISO
RGD
PMID:27418641
RGD:41412177
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
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Cd28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624765:12,650,092...12,667,168
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Cd68
CD68 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chrNW_004624786:10,195,337...10,197,963
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Cd80
CD80 molecule
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chrNW_004624731:28,630,540...28,655,297
Ensembl chrNW_004624731:28,630,446...28,651,994
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Cd86
CD86 molecule
ISO
RGD
PMID:10590132
RGD:6902938
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
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Csnk1a1
casein kinase 1 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624774:8,815,021...8,862,657
Ensembl chrNW_004624774:8,815,023...8,862,878
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Csnk2a1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624741:1,566,380...1,635,365
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Csnk2b
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624754:24,533,134...24,538,233
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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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_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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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_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624933:248,298...456,933
Ensembl chrNW_004624933:389,627...456,520
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392
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Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624739:4,343,164...4,353,123
Ensembl chrNW_004624739:4,343,246...4,352,066
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Icos
inducible T cell costimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861
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Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8800741 PMID:23962110
RGD:10755707
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624765:3,016,569...3,171,443
Ensembl chrNW_004624765:3,017,571...3,164,136
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8704212 PMID:23962110
RGD:11049460
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chrNW_004624733:39,412,800...39,420,079
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Il5
interleukin 5
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16425276
RGD:11354942
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
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Il6
interleukin 6
ISO
protein:increased expression:serum (human)
RGD
PMID:10374863
RGD:11060275
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
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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_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
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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_004624886:2,455,704...2,489,593
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Notch1
notch receptor 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:16707600
RGD:1580759
NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chrNW_004624772:10,358,554...10,369,371
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Plcg1
phospholipase C gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624919:1,766,533...1,800,130
Ensembl chrNW_004624919:1,766,149...1,803,097
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Prkcb
protein kinase C beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624782:8,974,995...9,287,609
Ensembl chrNW_004624782:8,974,765...9,287,702
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24090995
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Tal2
TAL bHLH transcription factor 2
ISO
RGD
PMID:1763056
RGD:1599285
NCBI chrNW_004624758:5,750,458...5,755,861
Ensembl chrNW_004624758:5,747,765...5,863,612
G
Terf2
telomeric repeat binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17643074
NCBI chrNW_004624746:16,992,049...17,020,809
Ensembl chrNW_004624746:16,992,110...17,019,857
G
Tlx1
T cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:1683261 PMID:1717256
RGD:1599439
NCBI chrNW_004624831:710,787...717,367
Ensembl chrNW_004624831:710,389...717,339
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
G
Tp73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
G
Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chrNW_004624828:3,838,464...3,896,698
Ensembl chrNW_004624828:3,838,706...3,897,080
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_004624737:7,565,169...7,681,102
G
Btk
Bruton tyrosine kinase
susceptibility
ISO
ClinVar Annotator: match by term: Agammaglobulinemia DNA:insertions, point mutations
ClinVar RGD
PMID:8162018 PMID:10352268
RGD:1600526
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576
G
Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897
G
Cd79b
CD79b molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14660746
RGD:1599837
NCBI chrNW_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897
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_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406
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_004624747:10,411,933...10,413,969
Ensembl chrNW_004624747:10,412,012...10,413,969
G
CUNH22orf15
chromosome unknown C22orf15 homolog
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,413,941...10,416,539
G
Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,357,560...10,359,779
Ensembl chrNW_004624747:10,357,627...10,359,779
G
Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821
G
Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,398,167...10,408,397
Ensembl chrNW_004624747:10,398,130...10,408,376
G
Slc2a11
solute carrier family 2 member 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,314,718...10,357,501
Ensembl chrNW_004624747:10,315,205...10,344,045
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_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719
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_004624747:10,422,747...10,425,633
Ensembl chrNW_004624747:10,424,262...10,425,438
G
Znf70
zinc finger protein 70
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624747:10,426,982...10,431,945
Ensembl chrNW_004624747:10,426,991...10,432,859
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_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897
G
Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624907:811,069...818,218
Ensembl chrNW_004624907:810,984...818,614
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_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488
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
OMIM ClinVar
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24582315 PMID:25741868 PMID:28492532 PMID:30619340 More...
NCBI chrNW_004624737:7,565,169...7,681,102
G
Cc2d2b
coiled-coil and C2 domain containing 2B
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624737:7,298,646...7,417,751
Ensembl chrNW_004624737:7,300,871...7,418,559
G
Ccnj
cyclin J
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624737:7,431,033...7,448,609
Ensembl chrNW_004624737:7,431,051...7,449,346
G
Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624737:7,011,792...7,193,903
Ensembl chrNW_004624737:7,084,818...7,191,918
G
Tctn3
tectonic family member 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chrNW_004624737:6,980,716...7,011,681
Ensembl chrNW_004624737:6,984,234...7,012,142
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_004624737:7,519,340...7,544,529
Ensembl chrNW_004624737:7,537,816...7,542,267
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_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076
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_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
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_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610
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_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
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
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:33905048 PMID:34618307 PMID:35101336 PMID:37277074 More...
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
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_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
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_004624754:23,602,940...23,606,903
Ensembl chrNW_004624754:23,603,141...23,640,406
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_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17157164
NCBI chrNW_004624734:2,233,932...2,239,687
Ensembl chrNW_004624734:2,233,547...2,241,436
G
Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chrNW_004624901:402,969...404,741
Ensembl chrNW_004624901:403,235...404,269
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17261581
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10908157 PMID:17261581
NCBI chrNW_004624818:957,597...996,565
G
Twist1
twist family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22155737
NCBI chrNW_004624739:11,352,040...11,354,019
Ensembl chrNW_004624739:11,352,141...11,352,809
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_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc29a3
solute carrier family 29 member 3
ISO
ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome
ClinVar
PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 PMID:22875837 PMID:23530176 PMID:25741868 PMID:27143505 PMID:27364927 PMID:28492532 PMID:29041934 PMID:29751792 PMID:29808591 PMID:31464584 More...
NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778
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_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508
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_004624791:15,119,267...15,154,722
Ensembl chrNW_004624791:15,119,731...15,154,507
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_004624771:8,137,031...8,172,876
Ensembl chrNW_004624771:8,136,965...8,172,951
G
Casp10
caspase 10
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:11973654 PMID:25741868 PMID:27577878 PMID:27872624 PMID:28492532 PMID:34329798 PMID:38704374 More...
NCBI chrNW_004624889:31,132...63,774
G
Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
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_004624771:8,034,225...8,051,451
Ensembl chrNW_004624771:8,036,701...8,051,998
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_004624737:39,649...41,241
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_004624771:9,195,036...9,228,238
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_004624771:8,003,208...8,033,981
Ensembl chrNW_004624771:8,003,295...8,034,043
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_004624771:9,247,463...9,838,276
Ensembl chrNW_004624771:9,247,218...9,838,254
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_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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Faslg
Fas ligand
susceptibility
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_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
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Ifit2
interferon induced protein with tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chrNW_004624737:123,044...129,222
Ensembl chrNW_004624737:119,458...131,567
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Ifit3
interferon induced protein with tetratricopeptide repeats 3
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chrNW_004624737:137,866...160,377
Ensembl chrNW_004624737:137,779...160,525
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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_004624737:297,012...303,449
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Itk
IL2 inducible T cell kinase
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:25741868
NCBI chrNW_004624733:32,125,005...32,198,901
Ensembl chrNW_004624733:32,127,388...32,198,869
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Klhl20
kelch like family member 20
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004624771:8,068,522...8,117,329
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chrNW_004624737:49,471...82,981
Ensembl chrNW_004624737:49,371...83,514
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Lipf
lipase F, gastric type
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:28492532
NCBI chrNW_004624791:14,961,554...14,972,310
Ensembl chrNW_004624791:14,961,557...14,972,238
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Lipm
lipase family member M
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chrNW_004624791:15,097,263...15,119,135
Ensembl chrNW_004624791:15,097,419...15,117,158
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Lipn
lipase family member N
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
ClinVar
PMID:10875918 PMID:22237435 PMID:28492532
NCBI chrNW_004624791:15,050,707...15,066,223
Ensembl chrNW_004624791:15,055,126...15,065,876
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Mettl13
methyltransferase 13, eEF1A N-terminus and K55
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004624771:9,842,545...9,901,846
Ensembl chrNW_004624771:9,887,876...9,901,799
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Mmp9
matrix metallopeptidase 9
disease_progression
ISO
RGD
PMID:21376533
RGD:13204846
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Myoc
myocilin
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004624771:10,066,170...10,080,257
Ensembl chrNW_004624771:10,065,788...10,080,680
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517660
NCBI chrNW_004624772:10,358,554...10,369,371
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Pigc
phosphatidylinositol glycan anchor biosynthesis class C
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004624771:9,234,218...9,236,991
Ensembl chrNW_004624771:9,234,242...9,236,987
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Prdx6
peroxiredoxin 6
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004624771:8,282,622...8,293,799
Ensembl chrNW_004624771:8,282,062...8,294,340
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Rc3h1
ring finger and CCCH-type domains 1
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
PMID:22857792 PMID:25451160 PMID:28492532
NCBI chrNW_004624771:7,837,547...7,948,217
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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_004624791:14,542,625...14,873,393
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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_004624771:7,955,778...7,966,637
Ensembl chrNW_004624771:7,955,739...7,966,637
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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_004624737:312,039...405,432
Ensembl chrNW_004624737:312,039...365,915
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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_004624771:8,175,164...8,268,303
Ensembl chrNW_004624771:8,187,118...8,268,333
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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_004624791:15,185,185...15,231,854
Ensembl chrNW_004624791:15,186,030...15,234,162
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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_004624771:9,094,893...9,168,989
Ensembl chrNW_004624771:9,096,453...9,168,731
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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_004624771:8,711,093...8,722,518
Ensembl chrNW_004624771:8,711,017...8,722,539
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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_004624771:8,580,489...8,599,735
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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_004624771:9,986,835...10,034,112
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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_004624771:7,958,343...7,995,351
Ensembl chrNW_004624771:7,980,922...7,995,017
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Casp10
caspase 10
ISO
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A
OMIM ClinVar
PMID:9536098 PMID:10412980 PMID:11973654 PMID:16199547 PMID:16446975 PMID:17576681 PMID:17999750 PMID:21382177 PMID:22995991 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27535533 PMID:27577878 PMID:27799292 PMID:27872624 PMID:28492532 PMID:34329798 PMID:38704374 More...
NCBI chrNW_004624889:31,132...63,774
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_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370
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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_004624899:74,080...170,565
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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_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683
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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_004624782:14,519,283...14,654,514
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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_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969
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Casp10
caspase 10
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_004624889:31,132...63,774
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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_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
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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_004624765:12,650,092...12,667,168
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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_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545
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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_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989
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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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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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_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952
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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_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603
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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_004624765:14,399,143...14,402,970
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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_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250
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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_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861
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LOC101700295
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_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574
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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_004624899:175,920...205,398
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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_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292
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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_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915
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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_004624765:14,139,815...14,172,413
G
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_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363
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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_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235
G
Sumo1
small ubiquitin like modifier 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864
G
Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737
G
Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392
G
Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200
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_004624822:4,035,819...4,062,907
Ensembl chrNW_004624822:4,033,130...4,059,555
G
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_004624822:4,081,012...4,140,702
Ensembl chrNW_004624822:4,091,523...4,130,083
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:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:20978259 PMID:21062266 PMID:21063026 PMID:21079152 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22282465 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22734028 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24703799 PMID:24720724 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26242988 PMID:26521233 PMID:26623049 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_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
G
Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder
OMIM ClinVar
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 PMID:8120410 PMID:12460918 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17332249 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21305640 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:23414587 PMID:23431193 PMID:23515407 PMID:24284627 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:33681212 PMID:36130886 More...
NCBI chrNW_004624772:10,358,554...10,369,371
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_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
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_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370
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_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683
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_004624782:14,519,283...14,654,514
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_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969
G
Casp10
caspase 10
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_004624889:31,132...63,774
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_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
G
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_004624765:12,650,092...12,667,168
G
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_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545
G
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_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
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_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952
G
Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603
G
Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:14,399,143...14,402,970
G
Ica1l
islet cell autoantigen 1 like
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250
G
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_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861
G
LOC101700295
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_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574
G
Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624899:175,920...205,398
G
Nbeal1
neurobeachin like 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915
G
Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:14,139,815...14,172,413
G
Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363
G
Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235
G
Sumo1
small ubiquitin like modifier 1
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864
G
Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737
G
Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392
G
Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ripk1
receptor interacting serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 PMID:32181283 PMID:36466854 More...
NCBI chrNW_004624756:21,806,570...21,837,351
Ensembl chrNW_004624756:21,805,599...21,830,699
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_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424
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_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia
ClinVar
PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532
NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acoxl
acyl-CoA oxidase like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004624749:1,130,192...1,487,040
G
Aicda
activation induced cytidine deaminase
disease_progression
ISO
RGD
PMID:21133730
RGD:11039455
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
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Apoe
apolipoprotein E
disease_progression
ISO
RGD
PMID:18784741
RGD:11040549
NCBI chrNW_004624907:1,752,322...1,755,308
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17968022
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Bcl11a
BCL11 transcription factor A
ISO
DNA:translocation:5' utr: (human)
RGD
PMID:11719382
RGD:11100004
NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400
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Bcl2
BCL2 apoptosis regulator
severity no_association treatment
ISO
protein:increased expression:B cell (human) CTD Direct Evidence: marker/mechanism DNA:snp:promoter:g.-938C>A (human)
RGD CTD
PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 PMID:23770605 More...
RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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Bmf
Bcl2 modifying factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004624804:7,420,003...7,440,012
Ensembl chrNW_004624804:7,423,547...7,440,014
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19376813 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21062266 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
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Btk
Bruton tyrosine kinase
treatment
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
RGD ClinVar
PMID:23045577 PMID:24869597 PMID:24869598 PMID:25189416 PMID:25741868 PMID:28492532 PMID:32492159 PMID:33226337 PMID:34177947 PMID:34249912 PMID:35196427 More...
RGD:11040699
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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Cbl
Cbl proto-oncogene
severity
ISO
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell:
RGD
PMID:17804547
RGD:11038803
NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
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Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chrNW_004624730:65,877,175...65,949,099
Ensembl chrNW_004624730:65,882,486...65,949,464
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
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Cd40lg
CD40 ligand
ISO
mouse-human chimeric gene in human
RGD
PMID:20882050
RGD:11352235
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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Cd5
CD5 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004624926:373,694...381,596
Ensembl chrNW_004624926:374,819...380,943
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Cd79b
CD79b molecule
ISO
protein:decreased expression:B lymphocyte, cell surface (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) DNA:polymorphism:multiple (human)
RGD
PMID:9269755 PMID:10090943 PMID:10552962
RGD:11250403 RGD:151665190 RGD:151665202
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25179679
RGD:11354969
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chrNW_004624768:18,386,415...18,468,879
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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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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Dkc1
dyskerin pseudouridine synthase 1
ISO
RGD
PMID:18077792
RGD:11251735
NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207
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Dnmt3b
DNA methyltransferase 3 beta
ISO
mRNA:decreased expression: B cell
RGD
PMID:15467427
RGD:9589146
NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785
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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_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
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Farp2
FERM, ARH/RhoGEF and pleckstrin domain protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062064
NCBI chrNW_004624847:5,385,718...5,511,408
Ensembl chrNW_004624847:5,385,764...5,511,227
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:12901972
RGD:11049461
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:25741868 PMID:26619011
NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336
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Fcgr3a
Fc fragment of IgG receptor IIIa
no_association
ISO
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:14563637
RGD:11352260
NCBI chrNW_004624826:51,387...59,117
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Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human)
RGD
PMID:17020971
RGD:1601379
NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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Icam1
intercellular adhesion molecule 1
severity
ISO
RGD
PMID:7658704
RGD:11354983
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Ifng
interferon gamma
susceptibility
ISO
DNA:polymorphism: :847A>T(human)
RGD
PMID:19757192
RGD:10755703
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Il10
interleukin 10
disease_progression no_association
ISO
protein:increased expression:serum DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) DNA:SNPs: :multiple
RGD
PMID:10638947 PMID:19573080 PMID:22945689
RGD:11041895 RGD:11049165 RGD:11049174
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il19
interleukin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:19074885
RGD:11051968
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
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Il1b
interleukin 1 beta
severity
ISO
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma:
RGD
PMID:10870116 PMID:18271063
RGD:11051967 RGD:11522755
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:decreased expression:plasma:
RGD
PMID:10870116
RGD:11522755
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Il6
interleukin 6
ISO
protein:increased expression:plasma: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10870116 PMID:18006695
RGD:11522755
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Irf4
interferon regulatory factor 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12079517 PMID:12393648 PMID:18758461
RGD:11526160 RGD:11530024
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
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Itga4
integrin subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21093051
NCBI chrNW_004624844:3,264,794...3,353,355
Ensembl chrNW_004624844:3,265,110...3,354,087
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004624830:1,320,034...1,422,774
Ensembl chrNW_004624830:1,321,387...1,424,389
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16706930
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chrNW_004624772:10,358,554...10,369,371
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P2rx7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11003599
NCBI chrNW_004624747:21,725,813...21,768,123
Ensembl chrNW_004624747:21,725,395...21,759,453
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Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:B cell (human)
RGD
PMID:12673718
RGD:11541127
NCBI chrNW_004624870:33,293...122,536
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Plcg2
phospholipase C gamma 2
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia
ClinVar
PMID:24869598 PMID:28492532
NCBI chrNW_004624746:5,678,057...5,824,663
Ensembl chrNW_004624746:5,682,666...5,821,855
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Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004624792:5,330,289...5,338,067
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Polb
DNA polymerase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004624780:884,896...941,587
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Ppp2r5c
protein phosphatase 2 regulatory subunit B'gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chrNW_004624734:2,337,649...2,471,319
Ensembl chrNW_004624734:2,335,243...2,470,811
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Prame
PRAME nuclear receptor transcriptional regulator
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222
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Prkd2
protein kinase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18758461
NCBI chrNW_004624832:6,885,627...6,915,316
Ensembl chrNW_004624832:6,886,327...6,915,179
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16314473
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15928039 PMID:16358218 PMID:17177198 PMID:17972951 PMID:18759865 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27069254 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 More...
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
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Qpct
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770605
NCBI chrNW_004624738:18,945,954...18,984,016
Ensembl chrNW_004624738:18,945,969...18,984,016
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Rbl2
RB transcriptional corepressor like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16038780
NCBI chrNW_004624757:3,295,471...3,351,539
Ensembl chrNW_004624757:3,295,479...3,351,928
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Sf3b1
splicing factor 3b subunit 1
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:23634996 PMID:25741868 PMID:26619011
NCBI chrNW_004624889:2,796,351...2,835,592
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Sf3b2
splicing factor 3b subunit 2
ISO
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164
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Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17344921
RGD:11038662
NCBI chrNW_004624751:624,569...647,198
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550
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Thbd
thrombomodulin
ISO
RGD
PMID:21812019
RGD:5685033
NCBI chrNW_004624741:22,880,481...22,883,962
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:bone marrow, blood, lymphocyte
RGD
PMID:12010662 PMID:22945689
RGD:10449463 RGD:11041895
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfrsf11a
TNF receptor superfamily member 11a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16270354
NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405
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Tnfsf13
TNF superfamily member 13
ISO
protein:increased expression:serum
RGD
PMID:15488762
RGD:1549466
NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Topbp1
DNA topoisomerase II binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18006695
NCBI chrNW_004624730:9,916,717...9,994,666
Ensembl chrNW_004624730:9,914,140...9,994,775
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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:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2531845 PMID:2554494 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10867151 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27050224 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30709875 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32126783 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32658383 PMID:32817165 PMID:32906206 PMID:32959997 PMID:33245408 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35820297 PMID:36168441 PMID:36988593 More...
RGD:11075074
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Vdr
vitamin D receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12446453
NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514
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Xpo1
exportin 1
ISO
ClinVar Annotator: match by term: Leukemia, B-cell, chronic
ClinVar
PMID:26619011
NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499
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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_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Aicda
activation induced cytidine deaminase
ISO
RGD
PMID:17251349
RGD:11039449
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
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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_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062
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Btk
Bruton tyrosine kinase
treatment
ISO
human cell in a mouse model
RGD
PMID:25662332 PMID:28348046
RGD:11040764 RGD:124713554
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
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Csf2
colony stimulating factor 2
treatment
ISO
RGD
PMID:8469286
RGD:10450244
NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11042651
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
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Eaf2
ELL associated factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20564326
NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553
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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_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196
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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_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24837469
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
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Kat5
lysine acetyltransferase 5
severity
ISO
RGD
PMID:17728759
RGD:9588481
NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164
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Lgals1
galectin 1
ISO
protein:increased expression:primary tumor (rat)
RGD
PMID:16733672
RGD:2316550
NCBI chrNW_004624752:10,220,115...10,223,434
Ensembl chrNW_004624752:10,219,872...10,223,317
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14633661
NCBI chrNW_004624772:10,358,554...10,369,371
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14654083
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Ptpn1
protein tyrosine phosphatase non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chrNW_004624790:5,070,537...5,135,243
Ensembl chrNW_004624790:5,073,476...5,135,181
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Tnfsf9
TNF superfamily member 9
ISO
RGD
PMID:10202049
RGD:2317349
NCBI chrNW_004624828:3,615,860...3,623,377
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21481795
RGD:11038814
NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973
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Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chrNW_004624752:23,469,237...23,605,803
Ensembl chrNW_004624752:23,470,201...23,573,648
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Bcl2l1
BCL2 like 1
severity
ISO
RGD
PMID:18216295
RGD:11531108
NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
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Bcr
BCR activator of RhoGEF and GTPase
ISO
BCR/ABL fusion
RGD
PMID:9310467
RGD:41404633
NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131
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Brd2
bromodomain containing 2
ISO
RGD
PMID:14563639
RGD:9586345
NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062
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Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24154679
NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833
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Ccnd1
cyclin D1
ISO
mRNA:increased expression:B cell (mouse)
RGD
PMID:23169640
RGD:11353783
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Crlf2
cytokine receptor like factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chrNW_004624834:596,067...610,333
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Etv6
ETS variant transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15217836 PMID:24413735 PMID:25807284
NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164
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F13a1
coagulation factor XIII A chain
ISO
protein:increased expression:B lymphoblast:
RGD
PMID:16894461
RGD:11041855
NCBI chrNW_004624756:19,103,064...19,259,632
Ensembl chrNW_004624756:19,103,327...19,259,964
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066
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Flt3
fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:bone marrow:
RGD
PMID:8562934
RGD:11049466
NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24141364
NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392
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Ido1
indoleamine 2,3-dioxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
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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_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841
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Il5
interleukin 5
ISO
RGD
PMID:15368290
RGD:7241068
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:20585039 PMID:21818355 PMID:25006123
RGD:11526159 RGD:11530020 RGD:11530030
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
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Irf8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455
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Isx
intestine specific homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004624750:460,058...483,303
Ensembl chrNW_004624750:468,316...482,716
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413735
NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868
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Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:cds:
RGD
PMID:21853052
RGD:11532669
NCBI chrNW_004624886:2,455,704...2,489,593
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
RGD
PMID:22120021
RGD:7207416
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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Pax5
paired box 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24013638 PMID:30643249
NCBI chrNW_004624930:491,220...660,476
Ensembl chrNW_004624930:491,892...667,530
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Pdgfra
platelet derived growth factor receptor alpha
treatment
ISO
RGD
PMID:22447844
RGD:11075097
NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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Runx1
RUNX family transcription factor 1
onset
ISO
DNA:amplification
RGD
PMID:21822204
RGD:6482828
NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532
NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624831:1,882,114...2,012,341
Ensembl chrNW_004624831:1,882,077...2,012,341
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
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Tdo2
tryptophan 2,3-dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35687267
NCBI chrNW_004624848:2,380,827...2,395,807
Ensembl chrNW_004624848:2,380,670...2,396,314
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Tfpi
tissue factor pathway inhibitor
treatment
ISO
RGD
PMID:19874310
RGD:11341694
NCBI chrNW_004624899:2,401,861...2,473,762
Ensembl chrNW_004624899:2,406,282...2,473,883
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Tnfsf13
TNF superfamily member 13
ISO
RGD
PMID:15488762
RGD:1549466
NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Tp53
tumor protein p53
disease_progression
ISO
DNA:mutations: :
RGD
PMID:22699455
RGD:11075072
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 More...
NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202
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_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202
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_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792
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_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397
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_004624782:8,752,510...8,780,972
Ensembl chrNW_004624782:8,751,866...8,780,884
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_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637
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_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
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_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447
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_004624757:5,895,912...5,953,485
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:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snp:cds:p.E383G (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_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
G
Sall1
spalt like transcription factor 1
ISO
ClinVar Annotator: match by term: Blau syndrome
ClinVar
PMID:28492532
NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617
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_004624752:6,127,296...6,150,474
Ensembl chrNW_004624752:6,144,720...6,145,781
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
G
Bbc3
BCL2 binding component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18573879
NCBI chrNW_004624832:6,467,716...6,476,754
Ensembl chrNW_004624832:6,470,475...6,476,754
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_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
G
Btk
Bruton tyrosine kinase
ameliorates treatment
ISO
Human cell line in a mouse model mRNA:increased expression:multiple (human)
RGD
PMID:28474336 PMID:30546948
RGD:124713565 RGD:124715474
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Calr
calreticulin
treatment
ISO
human cell line and recombinant protein in a mouse model human cells and recombinant protein in a mouse model
RGD
PMID:9858521 PMID:10961892
RGD:150521687 RGD:150521702
NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757
G
Cd40
CD40 molecule
treatment
ISO
human cell line in a mouse model
RGD
PMID:9192773
RGD:11520790
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Ftcd
formimidoyltransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624745:31,279,868...31,288,600
Ensembl chrNW_004624745:31,276,314...31,289,063
G
Gna13
G protein subunit alpha 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624870:3,278,870...3,323,015
Ensembl chrNW_004624870:3,278,898...3,323,153
G
Id3
inhibitor of DNA binding 3, HLH protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143595 PMID:23143597
NCBI chrNW_004624764:8,175,841...8,177,444
Ensembl chrNW_004624764:8,175,372...8,177,451
G
Mllt11
MLLT11 transcription factor 7 cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31587870
NCBI chrNW_004624772:18,762,099...18,768,629
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:25157968 PMID:25741868 PMID:27993330 PMID:32934698
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
G
Pbx1
PBX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chrNW_004624826:2,944,272...3,250,957
Ensembl chrNW_004624826:2,945,004...3,215,110
G
Pc
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610
G
Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281
G
Sall3
spalt like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624806:1,432,771...1,454,794
Ensembl chrNW_004624806:1,435,617...1,454,779
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
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_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar OMIM
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 More...
NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
G
Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
ClinVar
PMID:25741868 PMID:35235341
NCBI chrNW_004624827:4,499,655...4,586,301
Ensembl chrNW_004624827:4,499,287...4,585,771
G
Slc12a9
solute carrier family 12 member 9
ISO
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624740:16,297,332...16,307,888
Ensembl chrNW_004624740:16,297,217...16,307,988
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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Cd79b
CD79b molecule
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082G>A (human)
RGD
PMID:22628023
RGD:7364831
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Myd88
MYD88 innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
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_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ptpn14
protein tyrosine phosphatase non-receptor type 14
ISO
ClinVar Annotator: match by term: Choanal atresia and lymphedema | ClinVar Annotator: match by term: PTPN14-related condition
OMIM ClinVar
PMID:20826270 PMID:25741868 PMID:28492532
NCBI chrNW_004624771:19,489,069...19,625,328
Ensembl chrNW_004624771:19,495,821...19,573,568
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abca3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:28492532
NCBI chrNW_004624824:85,369...144,053
Ensembl chrNW_004624824:84,430...144,062
G
Aifm3
AIF family member 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621
G
Arvcf
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988
G
Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131
G
Ccdc116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,183,749...1,190,645
G
Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:756,298...759,056
G
Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417
G
Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
G
Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168
G
CUNH22orf39
chromosome unknown C22orf39 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341
G
Dgcr6l
DiGeorge syndrome critical region gene 6 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:905,239...910,562
G
Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040
G
Gnaz
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chrNW_004624747:9,425,720...9,479,571
Ensembl chrNW_004624747:9,425,775...9,480,162
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170
G
Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191
G
Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chrNW_004624747:1,065,864...1,096,164
Ensembl chrNW_004624747:1,067,927...1,092,757
G
Klhl22
kelch like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975
G
LOC101713307
protein HIRA
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:9...95,643
G
Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
G
Mapk1
mitogen-activated protein kinase 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:488,396...562,084
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684
G
Ppil2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,221,703...1,248,398
Ensembl chrNW_004624747:1,221,631...1,248,391
G
Ppm1f
protein phosphatase, Mg2+/Mn2+ dependent 1F
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,417,004...1,446,211
Ensembl chrNW_004624747:1,420,835...1,446,143
G
Prame
PRAME nuclear receptor transcriptional regulator
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222
G
Rab36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chrNW_004624747:9,504,525...9,521,315
Ensembl chrNW_004624747:9,506,138...9,519,176
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043
G
Rimbp3c
RIMS binding protein 3C
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,110,596...1,115,995
G
Rsph14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:25741868 PMID:38177409
NCBI chrNW_004624747:9,416,411...9,504,561
Ensembl chrNW_004624747:9,416,373...9,502,716
G
Rtl10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:484,995...486,791
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991
G
Scarf2
scavenger receptor class F member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958
G
Sdf2l1
stromal cell derived factor 2 like 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,195,043...1,197,105
Ensembl chrNW_004624747:1,195,055...1,197,105
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561
G
Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667
G
Slc7a4
solute carrier family 7 member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:647,571...686,870
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
G
Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480
G
Top3b
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,450,236...1,473,467
Ensembl chrNW_004624747:1,446,412...1,473,600
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154
G
Ube2l3
ubiquitin conjugating enzyme E2 L3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,125,009...1,178,595
Ensembl chrNW_004624747:1,125,022...1,177,524
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097
G
Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,181,617...1,183,581
Ensembl chrNW_004624747:1,181,956...1,183,485
G
Ypel1
yippee like 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:1,248,026...1,274,909
Ensembl chrNW_004624747:1,248,026...1,274,869
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989
G
Znf280a
zinc finger protein 280A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:8,841,993...8,848,484
G
Znf280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409
NCBI chrNW_004624747:8,816,707...8,835,136
Ensembl chrNW_004624747:8,819,889...8,821,529
G
Znf74
zinc finger protein 74
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal
ClinVar
PMID:31690835
NCBI chrNW_004624945:356,794...367,202
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aifm3
AIF family member 3
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621
G
Arvcf
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988
G
Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:756,298...759,056
G
Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417
G
Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
G
Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168
G
CUNH22orf39
chromosome unknown C22orf39 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341
G
Dgcr6l
DiGeorge syndrome critical region gene 6 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:905,239...910,562
G
Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170
G
Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191
G
Klhl22
kelch like family member 22
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975
G
LOC101713307
protein HIRA
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:9...95,643
G
Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
G
Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:488,396...562,084
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684
G
Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043
G
Rtl10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:484,995...486,791
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991
G
Scarf2
scavenger receptor class F member 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561
G
Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667
G
Slc7a4
solute carrier family 7 member 4
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:647,571...686,870
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
G
Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989
G
Znf74
zinc finger protein 74
ISO
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome
ClinVar
PMID:25741868 PMID:31690835
NCBI chrNW_004624945:356,794...367,202
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_004624736:9,428,736...9,494,645
G
Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:increased expression: (human)
RGD
PMID:36595475
RGD:401901275
NCBI chrNW_004624877:662,595...851,762
Ensembl chrNW_004624877:661,998...850,431
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12068308 PMID:12198537 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19206169 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:24033266 PMID:24451042 PMID:25157968 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29453417 PMID:29595366 More...
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:serum (human)
RGD
PMID:9450802
RGD:11522717
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Cd79b
CD79b molecule
ISO
protein:decreased expression:peripheral blood cells (human) protein:decreased expression:blood, B cell (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) protein:decreased expression:blood cells (human)
RGD
PMID:10090943 PMID:10329919 PMID:10516749 PMID:10753858
RGD:11531139 RGD:151665125 RGD:151665152 RGD:151665190
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Cd86
CD86 molecule
ISO
DNA:hypermethylation (human)
RGD
PMID:23154584
RGD:11354975
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
G
Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:25741868 PMID:26619011
NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:21911837
RGD:11354912
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
Irf4
interferon regulatory factor 4
disease_progression
ISO
DNA:SNP: :rs872071 (human) DNA:SNPs:3' utr:multiple DNA:missense mutation:exon:p.L116R (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_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
G
Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:20956327
RGD:11340590
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
G
Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chrNW_004624772:10,358,554...10,369,371
G
Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26254371
RGD:11073982
NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
G
Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:27069254 PMID:28098151 PMID:30868567 More...
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
G
Ptpn22
protein tyrosine phosphatase non-receptor type 22
susceptibility
ISO
protein:increased expression:B cell (human) DNA:snp:cds:p.R620W (rs2476601) (human)
RGD
PMID:22569400 PMID:23287625
RGD:11533998 RGD:11535006
NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990
G
Sf3b1
splicing factor 3b subunit 1
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chrNW_004624889:2,796,351...2,835,592
G
Sf3b2
splicing factor 3b subunit 2
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:29658610
RGD:21081544
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1683921 PMID:1978757 PMID:2046748 PMID:7478555 PMID:7651740 PMID:7732013 PMID:7737263 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8825920 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18685109 PMID:18937320 PMID:19101993 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22484423 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23028800 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27050224 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31300551 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32371905 PMID:32658383 PMID:32817165 PMID:32906206 PMID:33245408 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35820297 PMID:36168441 PMID:36988593 More...
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Xpo1
exportin 1
ISO
ClinVar Annotator: match by term: Chronic lymphatic leukemia
ClinVar
PMID:26619011
NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723
G
Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chrNW_004624737:30,325,962...30,526,311
Ensembl chrNW_004624737:30,324,515...30,526,486
G
Il5
interleukin 5
severity
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
G
Vtn
vitronectin
ISO
RGD
PMID:12126637
RGD:1580817
NCBI chrNW_004624786:970,288...973,344
Ensembl chrNW_004624786:966,452...973,337
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
OMIM ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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_004624786:9,838,102...9,843,506
Ensembl chrNW_004624786:9,838,227...9,843,332
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_004624786:9,955,883...9,972,391
Ensembl chrNW_004624786:9,958,351...9,972,326
G
Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,542,966...9,555,235
Ensembl chrNW_004624786:9,542,970...9,555,214
G
Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,647,450...10,659,301
Ensembl chrNW_004624786:10,647,175...10,659,337
G
Aloxe3
arachidonate epidermal lipoxygenase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,666,255...10,689,204
Ensembl chrNW_004624786:10,666,423...10,688,376
G
Asgr2
asialoglycoprotein receptor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,728,949...9,753,438
Ensembl chrNW_004624786:9,728,336...9,753,434
G
Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,254,979...10,261,508
Ensembl chrNW_004624786:10,234,492...10,262,367
G
Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,769,797...10,775,142
Ensembl chrNW_004624786:10,765,610...10,775,112
G
Bacc1
BPTF associated chromatin complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,559,130...9,561,847
Ensembl chrNW_004624786:9,557,766...9,562,800
G
Bcl6b
BCL6B transcription repressor
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,566,742...9,573,513
Ensembl chrNW_004624786:9,566,867...9,573,513
G
Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,755,776...10,758,103
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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Cd68
CD68 molecule
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,195,337...10,197,963
G
Cd81
CD81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624767:15,192,446...15,210,923
Ensembl chrNW_004624767:15,192,452...15,210,922
G
Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,056,458...10,065,768
Ensembl chrNW_004624786:10,056,478...10,065,735
G
Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,873,555...9,875,743
Ensembl chrNW_004624786:9,873,555...9,875,817
G
Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,514,593...10,532,661
Ensembl chrNW_004624786:10,514,609...10,532,563
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Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,795,848...10,819,029
Ensembl chrNW_004624786:10,795,193...10,819,613
G
Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,857,370...9,867,299
Ensembl chrNW_004624786:9,860,758...9,867,293
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_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250
G
Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,811,201...9,835,660
Ensembl chrNW_004624786:9,811,780...9,837,100
G
Dnah2
dynein axonemal heavy chain 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,311,183...10,413,236
Ensembl chrNW_004624786:10,311,214...10,413,037
G
Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,843,580...9,851,538
Ensembl chrNW_004624786:9,844,157...9,851,301
G
Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,297,795...10,304,363
Ensembl chrNW_004624786:10,297,807...10,304,473
G
Eif4a1
eukaryotic translation initiation factor 4A1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,188,326...10,194,466
Ensembl chrNW_004624786:10,188,406...10,194,464
G
Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,933,325...9,938,178
G
Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,866,689...9,873,242
Ensembl chrNW_004624786:9,867,704...9,874,886
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Fbxo39
F-box protein 39
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:7,263,219...7,269,847
Ensembl chrNW_004624786:7,262,539...7,269,946
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Fcgr2a
Fc fragment of IgG receptor IIa
ISO
protein:decreased expression:blood, monocyte
RGD
PMID:17900300
RGD:5147988
NCBI chrNW_004624826:23,930...34,735
G
Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,049,954...10,056,376
Ensembl chrNW_004624786:10,050,002...10,056,390
G
Fxr2
FMR1 autosomal homolog 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,205,830...10,226,973
Ensembl chrNW_004624786:10,205,835...10,226,513
G
Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,857,370...9,859,675
Ensembl chrNW_004624786:9,857,370...9,860,063
G
Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,938,384...9,941,210
Ensembl chrNW_004624786:9,938,384...9,941,235
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Gucy2d
guanylate cyclase 2D, retinal
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,574,252...10,589,303
Ensembl chrNW_004624786:10,574,968...10,588,540
G
Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,692,329...10,699,346
Ensembl chrNW_004624786:10,692,329...10,695,132
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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_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861
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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_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841
G
Il21
interleukin 21
ISO
ClinVar Annotator: match by term: IL21 DEFICIENCY
ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
G
Il21r
interleukin 21 receptor
ISO
DNA:SNPs:exons:
RGD
PMID:18254984
RGD:6892941
NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650
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_004624786:10,504,135...10,512,383
Ensembl chrNW_004624786:10,504,147...10,511,695
G
Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,972,773...9,975,819
Ensembl chrNW_004624786:9,973,841...9,974,539
G
Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,413,670...10,435,118
Ensembl chrNW_004624786:10,425,816...10,433,806
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms (human)
RGD
PMID:10361244
RGD:5147864
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
Manba
mannosidase beta
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chrNW_004624830:5,254,545...5,329,627
Ensembl chrNW_004624830:5,254,495...5,330,611
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_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Mpdu1
mannose-P-dolichol utilization defect 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,199,320...10,202,997
Ensembl chrNW_004624786:10,199,141...10,202,984
G
Naa38
N-alpha-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,436,970...10,437,882
Ensembl chrNW_004624786:10,436,970...10,437,890
G
Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,941,300...9,953,026
Ensembl chrNW_004624786:9,941,296...9,953,011
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_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
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_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187
G
Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,019,307...10,034,624
Ensembl chrNW_004624786:10,022,717...10,034,624
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:T cell (human)
RGD
PMID:22697005
RGD:6771226
NCBI chrNW_004624870:33,293...122,536
G
Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,706,495...10,722,110
Ensembl chrNW_004624786:10,707,075...10,719,859
G
Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,852,151...9,856,541
Ensembl chrNW_004624786:9,852,366...9,856,524
G
Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,003,626...10,008,457
Ensembl chrNW_004624786:10,003,626...10,008,879
G
Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,098,133...10,122,783
Ensembl chrNW_004624786:10,097,294...10,122,893
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_004624831:1,810,372...1,823,708
Ensembl chrNW_004624831:1,809,518...1,823,318
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_004624767:10,678,547...10,680,130
Ensembl chrNW_004624767:10,678,359...10,680,132
G
Rnasek
ribonuclease K
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,556,891...9,558,946
Ensembl chrNW_004624786:9,556,874...9,558,946
G
Sat2
spermidine/spermine N1-acetyltransferase family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,232,078...10,233,602
Ensembl chrNW_004624786:10,227,937...10,233,723
G
Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,179,604...10,187,416
Ensembl chrNW_004624786:10,179,557...10,187,416
G
Shbg
sex hormone binding globulin
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,234,484...10,239,034
G
Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:7,321,622...7,357,270
Ensembl chrNW_004624786:7,322,188...7,357,220
G
Slc16a11
solute carrier family 16 member 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,579,714...9,582,464
Ensembl chrNW_004624786:9,578,614...9,583,715
G
Slc16a13
solute carrier family 16 member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,575,407...9,579,052
Ensembl chrNW_004624786:9,574,583...9,579,048
G
Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,903,176...9,908,953
Ensembl chrNW_004624786:9,902,509...9,909,684
G
Slc35g6
solute carrier family 35 member G6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,085,388...10,096,246
G
Sox15
SRY-box transcription factor 15
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,202,988...10,204,808
Ensembl chrNW_004624786:10,202,988...10,204,358
G
Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,034,794...10,038,171
Ensembl chrNW_004624786:10,034,685...10,036,388
G
Tekt1
tektin 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:7,218,533...7,248,593
Ensembl chrNW_004624786:7,218,590...7,249,538
G
Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,047,087...10,049,324
Ensembl chrNW_004624786:10,046,666...10,052,108
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359
G
Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,017,349...10,018,658
Ensembl chrNW_004624786:10,017,352...10,018,582
G
Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,435,352...10,436,385
Ensembl chrNW_004624786:10,435,363...10,436,374
G
Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,975,903...9,978,343
Ensembl chrNW_004624786:9,976,052...9,977,825
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:35686370 PMID:37652172 PMID:37678716 More...
NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593
G
Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097
G
Tnfsf12
TNF superfamily member 12
ISO
ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532
NCBI chrNW_004624786:10,165,694...10,176,042
Ensembl chrNW_004624786:10,166,168...10,175,433
G
Tnfsf13
TNF superfamily member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233
G
Tnk1
tyrosine kinase non receptor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,995,167...10,003,298
Ensembl chrNW_004624786:9,997,089...10,003,553
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,512,569...10,514,504
Ensembl chrNW_004624786:10,512,587...10,514,213
G
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_004624738:28,355,161...28,472,733
Ensembl chrNW_004624738:28,355,121...28,472,733
G
Vamp2
vesicle associated membrane protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,723,791...10,727,654
Ensembl chrNW_004624786:10,724,964...10,727,649
G
Wrap53
WD repeat containing antisense to TP53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:10,283,721...10,296,568
Ensembl chrNW_004624786:10,283,984...10,296,729
G
Xaf1
XIAP associated factor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:7,270,601...7,286,431
Ensembl chrNW_004624786:7,269,986...7,286,640
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Ybx2
Y-box binding protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chrNW_004624786:9,909,464...9,915,335
Ensembl chrNW_004624786:9,909,761...9,915,280
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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_004624786:10,067,503...10,085,500
Ensembl chrNW_004624786:10,066,801...10,085,482
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_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370
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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_004624899:74,080...170,565
G
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_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683
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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_004624782:14,519,283...14,654,514
G
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_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969
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Casp10
caspase 10
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_004624889:31,132...63,774
G
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_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087
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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_004624765:12,650,092...12,667,168
G
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_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545
G
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_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989
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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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
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_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952
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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_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603
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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_004624765:14,399,143...14,402,970
G
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_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250
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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_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861
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LOC101700295
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_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574
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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_004624899:175,920...205,398
G
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_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292
G
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_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915
G
Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:24140114 PMID:28492532
NCBI chrNW_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187
G
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_004624765:14,139,815...14,172,413
G
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_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363
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_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235
G
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_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864
G
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_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737
G
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_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593
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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_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392
G
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_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200
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
ClinVar OMIM
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_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187
G
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_004624831:1,810,372...1,823,708
Ensembl chrNW_004624831:1,809,518...1,823,318
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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_004624817:5,291,111...5,522,732
Ensembl chrNW_004624817:5,291,717...5,522,864
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_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
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_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
G
Nfkbid
NFKB inhibitor delta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar
NCBI chrNW_004624794:10,172,789...10,180,693
Ensembl chrNW_004624794:10,168,792...10,179,510
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_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841
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_004624775:15,152,840...15,300,160
Ensembl chrNW_004624775:15,152,950...15,301,078
G
B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:14,992,189...15,066,787
Ensembl chrNW_004624775:14,992,335...15,065,970
G
Ggps1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:15,141,131...15,149,187
G
Gng4
G protein subunit gamma 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:14,916,047...14,962,661
Ensembl chrNW_004624775:14,916,063...14,962,667
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_004624775:15,479,808...15,484,855
Ensembl chrNW_004624775:15,482,630...15,484,824
G
Kcnk1
potassium two pore domain channel subfamily K member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:16,494,054...16,538,089
Ensembl chrNW_004624775:16,493,949...16,538,025
G
LOC101702099
cytochrome c oxidase assembly factor 6 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:15,942,940...15,945,964
G
Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:14,670,498...14,900,501
Ensembl chrNW_004624775:14,705,693...14,898,660
G
Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:14,486,357...14,563,341
Ensembl chrNW_004624775:14,486,145...14,563,447
G
Rbm34
RNA binding motif protein 34
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:15,293,143...15,325,344
Ensembl chrNW_004624775:15,304,205...15,325,344
G
Slc35f3
solute carrier family 35 member F3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:15,998,318...16,330,835
Ensembl chrNW_004624775:15,996,602...16,084,601
G
Tarbp1
TAR (HIV-1) RNA binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:15,874,543...15,939,275
Ensembl chrNW_004624775:15,874,551...15,939,272
G
Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008
G
Tomm20
translocase of outer mitochondrial membrane 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chrNW_004624775:15,331,214...15,355,206
Ensembl chrNW_004624775:15,331,047...15,355,206
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_004624961:427,836...460,887
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_004624961:466,234...477,880
Ensembl chrNW_004624961:467,656...477,884
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Decreased circulating antibody concentration
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624751:624,569...647,198
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_004624849:5,911,711...5,941,706
Ensembl chrNW_004624849:5,912,273...5,938,007
G
Alkbh5
alkB homolog 5, RNA demethylase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245
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_004624849:3,409,108...3,429,780
Ensembl chrNW_004624849:3,409,121...3,429,780
G
B9d1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221
G
Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576
G
Cops3
COP9 signalosome subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:4,125,188...4,150,933
Ensembl chrNW_004624849:4,124,586...4,150,933
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_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211
G
Drc3
dynein regulatory complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,429,932...3,466,172
Ensembl chrNW_004624849:3,429,932...3,466,481
G
Drg2
developmentally regulated GTP binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,352,124...3,370,288
Ensembl chrNW_004624849:3,351,963...3,370,229
G
Epn2
epsin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,520,279...5,632,152
Ensembl chrNW_004624849:5,577,679...5,633,008
G
Fam83g
family with sequence similarity 83 member G
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,396,223...5,428,272
Ensembl chrNW_004624849:5,398,579...5,428,309
G
Flcn
folliculin
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:4,157,683...4,179,724
G
Flii
FLII actin remodeling protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,213,988...3,227,734
Ensembl chrNW_004624849:3,214,042...3,227,476
G
Gid4
GID complex subunit 4 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,385,312...3,408,842
Ensembl chrNW_004624849:3,386,101...3,408,924
G
Grap
GRB2 related adaptor protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,441,806...5,468,300
Ensembl chrNW_004624849:5,441,749...5,468,276
G
Llgl1
LLGL scribble cell polarity complex component 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,227,518...3,245,137
Ensembl chrNW_004624849:3,227,758...3,245,118
G
Mapk7
mitogen-activated protein kinase 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,655,631...5,661,779
Ensembl chrNW_004624849:5,656,515...5,664,721
G
Med9
mediator complex subunit 9
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,920,046...3,934,748
Ensembl chrNW_004624849:3,920,268...3,934,777
G
Mfap4
microfibril associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,661,916...5,665,290
Ensembl chrNW_004624849:5,661,920...5,664,970
G
Mief2
mitochondrial elongation factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,207,698...3,213,121
Ensembl chrNW_004624849:3,207,606...3,212,671
G
Mprip
myosin phosphatase Rho interacting protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:4,231,802...4,368,355
Ensembl chrNW_004624849:4,237,118...4,368,355
G
Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759
G
Nt5m
5',3'-nucleotidase, mitochondrial
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:4,031,421...4,098,326
Ensembl chrNW_004624849:4,052,050...4,098,149
G
Pemt
phosphatidylethanolamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,818,115...3,907,250
Ensembl chrNW_004624849:3,817,915...3,908,888
G
Pld6
phospholipase D family member 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:4,202,398...4,245,217
Ensembl chrNW_004624849:4,224,986...4,227,755
G
Prpsap2
phosphoribosyl pyrophosphate synthetase associated protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,298,389...5,334,161
Ensembl chrNW_004624849:5,298,410...5,334,161
G
Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,624,436...3,749,276
Ensembl chrNW_004624849:3,625,882...3,640,671
G
Rasd1
ras related dexamethasone induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,916,898...3,918,904
Ensembl chrNW_004624849:3,916,907...3,920,212
G
Rnf112
ring finger protein 112
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,698,937...5,706,316
Ensembl chrNW_004624849:5,699,839...5,706,826
G
Shmt1
serine hydroxymethyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,108,875...3,146,669
Ensembl chrNW_004624849:3,114,876...3,146,248
G
Slc47a1
solute carrier family 47 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,775,925...5,831,941
Ensembl chrNW_004624849:5,776,180...5,830,871
G
Slc5a10
solute carrier family 5 member 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:5,364,527...5,441,805
Ensembl chrNW_004624849:5,368,343...5,441,797
G
Smcr8
SMCR8-C9orf72 complex subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,147,251...3,159,358
Ensembl chrNW_004624849:3,149,121...3,159,273
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,602,103...3,623,922
Ensembl chrNW_004624849:3,602,261...3,623,465
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:35686370 PMID:37652172 PMID:37678716 More...
NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593
G
Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097
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_004624849:3,466,572...3,594,397
Ensembl chrNW_004624849:3,466,520...3,594,738
G
Top3a
DNA topoisomerase III alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624849:3,159,432...3,196,235
Ensembl chrNW_004624849:3,159,810...3,194,860
G
Tvp23b
trans-golgi network vesicle protein 23 homolog B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chrNW_004624877:3,536,540...3,631,960
Ensembl chrNW_004624877:3,516,159...3,631,561
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_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576
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_004624752:6,127,296...6,150,474
Ensembl chrNW_004624752:6,144,720...6,145,781
G
Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,074,148...7,113,773
Ensembl chrNW_004624752:7,074,153...7,113,773
G
Ccdc134
coiled-coil domain containing 134
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,872,192...6,885,435
Ensembl chrNW_004624752:6,871,911...6,885,396
G
Cenpm
centromere protein M
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,781,504...6,790,520
Ensembl chrNW_004624752:6,781,529...6,790,518
G
Chadl
chondroadherin like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:7,284,344...7,293,815
Ensembl chrNW_004624752:7,283,639...7,289,531
G
Csdc2
cold shock domain containing C2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,047,262...7,058,818
Ensembl chrNW_004624752:7,047,271...7,058,830
G
Desi1
desumoylating isopeptidase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,010,941...7,031,125
Ensembl chrNW_004624752:7,010,963...7,031,125
G
L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:7,291,888...7,309,379
Ensembl chrNW_004624752:7,292,852...7,309,856
G
LOC101718541
NADH-cytochrome b5 reductase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,182,156...6,198,395
Ensembl chrNW_004624752:6,182,129...6,198,400
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_004624752:6,885,606...6,958,109
G
Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,682,272...6,689,491
Ensembl chrNW_004624752:6,675,255...6,692,231
G
Ndufa6
NADH:ubiquinone oxidoreductase subunit A6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,658,807...6,663,830
Ensembl chrNW_004624752:6,658,824...6,663,830
G
Nfam1
NFAT activating protein with ITAM motif 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,298,251...6,356,562
Ensembl chrNW_004624752:6,324,181...6,357,066
G
Pheta2
PH domain containing endocytic trafficking adaptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,665,433...6,675,776
Ensembl chrNW_004624752:6,669,159...6,673,747
G
Phf5a
PHD finger protein 5A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,114,239...7,123,706
Ensembl chrNW_004624752:7,114,274...7,123,706
G
Pmm1
phosphomannomutase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,039,781...7,047,069
Ensembl chrNW_004624752:7,039,789...7,047,069
G
Poldip3
DNA polymerase delta interacting protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,200,864...6,228,472
Ensembl chrNW_004624752:6,200,888...6,228,471
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,066,057...7,074,251
Ensembl chrNW_004624752:7,066,073...7,074,251
G
Rangap1
Ran GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,246,161...7,277,702
Ensembl chrNW_004624752:7,246,193...7,277,701
G
Rbx1
ring-box 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:7,547,702...7,560,605
Ensembl chrNW_004624752:7,546,959...7,560,668
G
Rrp7a
ribosomal RNA processing 7 homolog A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,229,962...6,236,699
Ensembl chrNW_004624752:6,230,009...6,235,373
G
Septin3
septin 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,737,704...6,757,920
G
Shisa8
shisa family member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,808,295...6,813,039
Ensembl chrNW_004624752:6,808,295...6,813,216
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_004624752:6,665,433...6,668,956
Ensembl chrNW_004624752:6,665,433...6,669,045
G
Snu13
small nuclear ribonucleoprotein 13
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,972,557...6,985,033
Ensembl chrNW_004624752:6,972,618...6,985,033
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_004624752:6,815,075...6,871,674
Ensembl chrNW_004624752:6,816,468...6,871,567
G
Tcf20
transcription factor 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:6,446,414...6,537,238
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_004624752:7,159,791...7,186,043
Ensembl chrNW_004624752:7,159,362...7,186,022
G
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_004624752:6,797,453...6,799,437
Ensembl chrNW_004624752:6,797,983...6,799,097
G
Tob2
transducer of ERBB2, 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,129,464...7,190,718
Ensembl chrNW_004624752:7,129,550...7,140,668
G
Wbp2nl
WBP2 N-terminal like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,689,501...6,736,053
Ensembl chrNW_004624752:6,711,843...6,736,018
G
Xpnpep3
X-prolyl aminopeptidase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chrNW_004624752:7,573,399...7,634,875
Ensembl chrNW_004624752:7,574,920...7,634,838
G
Xrcc6
X-ray repair cross complementing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:6,987,456...7,010,834
Ensembl chrNW_004624752:6,979,271...7,010,787
G
Zc3h7b
zinc finger CCCH-type containing 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chrNW_004624752:7,191,287...7,233,982
Ensembl chrNW_004624752:7,193,846...7,216,469
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_004624767:15,192,446...15,210,923
Ensembl chrNW_004624767:15,192,452...15,210,922
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
C4bpb
complement component 4 binding protein beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,407,008...4,416,313
Ensembl chrNW_004624807:4,406,766...4,415,248
G
Cd34
CD34 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:3,936,043...3,958,274
Ensembl chrNW_004624807:3,936,028...3,957,249
G
Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,040,639...4,074,631
G
Cd55
CD55 molecule (Cromer blood group)
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,252,676...4,274,828
G
Cr2
complement C3d receptor 2
susceptibility
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26325596 PMID:28492532 PMID:28499783 PMID:29148534 PMID:29867916 PMID:30075290 PMID:33046446 PMID:34426522 More...
NCBI chrNW_004624807:4,149,472...4,179,269
Ensembl chrNW_004624807:4,152,230...4,179,211
G
CUNH1orf116
chromosome unknown C1orf116 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,462,329...4,474,382
Ensembl chrNW_004624807:4,462,447...4,474,792
G
Fcamr
Fc alpha and mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,508,910...4,534,263
G
Fcmr
Fc mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,567,240...4,581,406
G
Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022
G
Il20
interleukin 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,618,378...4,620,844
Ensembl chrNW_004624807:4,617,738...4,620,843
G
Il24
interleukin 24
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,581,805...4,586,808
Ensembl chrNW_004624807:4,581,731...4,585,010
G
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_004624807:4,420,577...4,442,842
Ensembl chrNW_004624807:4,420,047...4,443,370
G
Pigr
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,545,508...4,562,976
Ensembl chrNW_004624807:4,545,481...4,563,357
G
Plxna2
plexin A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:3,643,283...3,829,817
Ensembl chrNW_004624807:3,643,255...3,834,128
G
Yod1
YOD1 deubiquitinase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chrNW_004624807:4,443,653...4,448,759
Ensembl chrNW_004624807:4,443,650...4,446,373
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_004624858:1,797,123...2,471,017
Ensembl chrNW_004624858:1,797,123...2,471,867
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_004624858:2,074,510...2,077,282
Ensembl chrNW_004624858:2,075,456...2,076,535
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,732,068...10,837,678
Ensembl chrNW_004624808:10,738,181...10,851,641
G
Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,320,388...10,464,081
Ensembl chrNW_004624808:10,319,793...10,465,514
G
Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,652,817...10,658,434
Ensembl chrNW_004624808:10,652,776...10,658,498
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164
G
Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:9,950,331...9,960,019
Ensembl chrNW_004624808:9,951,202...9,953,971
G
Htatsf1
HIV-1 Tat specific factor 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,634,919...10,648,734
Ensembl chrNW_004624808:10,634,597...10,648,892
G
Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,887,555...10,921,217
G
Rbmx
RNA binding motif protein X-linked
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,176,695...10,185,847
Ensembl chrNW_004624808:10,176,293...10,182,079
G
Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:11,107,125...11,157,913
G
Vgll1
vestigial like family member 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chrNW_004624808:10,590,328...10,611,775
G
Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia
OMIM ClinVar
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:15319456 PMID:15358621 PMID:16019685 PMID:17295247 PMID:17764085 PMID:18342287 PMID:18716025 PMID:21465648 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26014430 PMID:26294094 PMID:27406248 PMID:28492532 PMID:30622330 PMID:32753700 PMID:39275801 More...
NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
PMID:25741868 PMID:26531781
NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714
G
Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
PMID:25741868 PMID:30532227
NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080
G
Rai2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chrNW_004624829:2,568,865...2,634,268
Ensembl chrNW_004624829:2,568,763...2,633,780
G
Rock2
Rho associated coiled-coil containing protein kinase 2
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chrNW_004624865:4,461,200...4,591,309
Ensembl chrNW_004624865:4,461,215...4,588,836
G
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823
G
Zfyve16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Dextrocardia
ClinVar
NCBI chrNW_004624743:1,339,650...1,383,883
G
Zic3
Zic family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17127413
NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093
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:22474449
NCBI chrNW_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891
G
B2m
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7688627
NCBI chrNW_004624804:11,514,728...11,521,625
G
Bcas2
BCAS2 pre-mRNA processing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004624772:10,210,505...10,224,705
Ensembl chrNW_004624772:10,214,000...10,224,712
G
Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
G
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_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
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_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993
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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981
G
Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
G
Ccdc86
coiled-coil domain containing 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23828858
NCBI chrNW_004624926:259,458...263,362
Ensembl chrNW_004624926:259,372...263,577
G
Cd22
CD22 molecule
treatment
ISO
RGD
PMID:25708834
RGD:151665133
NCBI chrNW_004624794:8,211,232...8,224,020
Ensembl chrNW_004624794:8,211,094...8,221,866
G
Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25049379
NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897
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_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Cdk1
cyclin dependent kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chrNW_004624791:2,891,239...2,915,001
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_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
G
Cltc
clathrin heavy chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chrNW_004624871:1,439,975...1,507,514
Ensembl chrNW_004624871:1,439,838...1,510,911
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_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
G
Dicer1
dicer 1, ribonuclease III
disease_progression
ISO
RGD
PMID:25195038
RGD:149735347
NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819
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_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
G
Etv6
ETS variant transcription factor 6
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:35053500
NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164
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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_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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Fcgr2a
Fc fragment of IgG receptor IIa
disease_progression
ISO
DNA:SNP: :rs1801274 (human)
RGD
PMID:27282998
RGD:11344967
NCBI chrNW_004624826:23,930...34,735
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Foxo1
forkhead box O1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:26314988 PMID:29721381 PMID:35079069
NCBI chrNW_004624748:1,413,754...1,529,646
Ensembl chrNW_004624748:1,413,983...1,529,992
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Gli1
GLI family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625222
NCBI chrNW_004624802:10,483,279...10,494,539
Ensembl chrNW_004624802:10,483,219...10,498,609
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Icam1
intercellular adhesion molecule 1
disease_progression
ISO
proteion:increased expression:serum:
RGD
PMID:12598355
RGD:11354982
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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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_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650
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Immp2l
inner mitochondrial membrane peptidase subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004624739:18,264,690...19,194,634
Ensembl chrNW_004624739:18,323,816...19,194,466
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Irf4
interferon regulatory factor 4
disease_progression
ISO
RGD
PMID:15701085
RGD:11530023
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
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Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804550
NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
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Malt1
MALT1 paracaspase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004624792:4,148,258...4,223,431
Ensembl chrNW_004624792:4,148,453...4,217,548
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Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:20919850
RGD:6483541
NCBI chrNW_004624737:18,935,686...18,963,907
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:17712558
RGD:6893517
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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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:26619011 PMID:28492532 PMID:31609782 More...
RGD:151665203
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9590180 PMID:16415040 PMID:28492532
NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27356265
NCBI chrNW_004624907:1,713,786...1,739,158
Ensembl chrNW_004624907:1,713,443...1,740,627
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21390130 PMID:22158541 PMID:23292937
NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576
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Nfkbia
NFKB inhibitor alpha
no_association
ISO
SNA:polymorphism(s)
RGD
PMID:15198731
RGD:2298905
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
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Nom1
nucleolar protein with MIF4G domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chrNW_004624800:1,441,929...1,461,958
Ensembl chrNW_004624800:1,441,827...1,461,686
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Pdpk1
3-phosphoinositide dependent protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004624824:279,893...383,220
Ensembl chrNW_004624824:293,374...383,156
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004624730:15,226,786...15,399,097
Ensembl chrNW_004624730:15,226,379...15,355,857
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21173233
NCBI chrNW_004624739:22,737,376...22,772,696
Ensembl chrNW_004624739:22,737,270...22,772,589
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
NCBI chrNW_004624740:31,315,121...31,345,137
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Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:22321048
RGD:150530470
NCBI chrNW_004624780:16,205,056...16,227,382
Ensembl chrNW_004624780:16,204,838...16,227,390
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004624737:27,625,120...27,635,221
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Prdx4
peroxiredoxin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004624897:92,977...112,920
Ensembl chrNW_004624897:95,521...112,920
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31123343
NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 PMID:11035045 PMID:11504908 PMID:12297295 PMID:15016963 PMID:15254419 PMID:15647370 PMID:17526800 PMID:17526801 PMID:18725974 PMID:18986487 PMID:19265751 PMID:19366826 PMID:19903786 PMID:20085938 PMID:20453058 PMID:20533527 PMID:20619739 PMID:21194675 PMID:22162582 PMID:22162589 PMID:22628360 PMID:23335809 PMID:24778394 PMID:24905788 PMID:25157968 PMID:25336918 PMID:25448482 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29874181 More...
NCBI chrNW_004624791:13,975,235...14,056,900
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Rangap1
Ran GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27150054
NCBI chrNW_004624752:7,246,161...7,277,702
Ensembl chrNW_004624752:7,246,193...7,277,701
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Rps6kb1
ribosomal protein S6 kinase B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223503
NCBI chrNW_004624871:1,667,292...1,705,550
Ensembl chrNW_004624871:1,667,291...1,702,783
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Sec31a
SEC31 homolog A, COPII coat complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22474449
NCBI chrNW_004624757:8,040,894...8,122,785
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Sf3a1
splicing factor 3a subunit 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:22037554 PMID:26498691 PMID:33563892
NCBI chrNW_004624747:6,654,656...6,679,525
Ensembl chrNW_004624747:6,655,037...6,679,640
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Skp2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18850583
NCBI chrNW_004624759:18,796,055...18,858,692
Ensembl chrNW_004624759:18,830,323...18,858,712
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Smurf2
SMAD specific E3 ubiquitin protein ligase 2
ISO
MouseDO
NCBI chrNW_004624870:243,381...365,543
Ensembl chrNW_004624870:246,260...366,033
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Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055
NCBI chrNW_004624824:8,444,877...8,446,628
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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Sod3
superoxide dismutase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004624755:7,535,044...7,541,298
Ensembl chrNW_004624755:7,535,044...7,541,221
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 PMID:26702067 PMID:28492532 PMID:29162862 PMID:29180260 PMID:30940614 PMID:31737384 PMID:31770611 PMID:31771617 PMID:32231398 PMID:36228738 PMID:36240433 PMID:36630607 More...
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Syk
spleen associated tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33782605
NCBI chrNW_004624868:1,654,079...1,738,648
Ensembl chrNW_004624868:1,653,997...1,701,391
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Tbl1xr1
TBL1X/Y related 1
ISO
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
ClinVar
PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 PMID:26769062 PMID:28492532 PMID:28562391 PMID:32619424 PMID:32932517 PMID:35165208 More...
NCBI chrNW_004624730:54,835,624...55,013,474
Ensembl chrNW_004624730:54,835,624...54,884,835
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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:16489069 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28985567 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:33300245 PMID:36988593 More...
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Txnip
thioredoxin interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081686
NCBI chrNW_004624772:17,341,918...17,345,964
Ensembl chrNW_004624772:17,341,630...17,345,960
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Aifm3
AIF family member 3
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621
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Aldh1a2
aldehyde dehydrogenase 1 family member A2
ISO
OMIM:188400
RGD MouseDO
PMID:12563036
RGD:734550
NCBI chrNW_004624781:13,756,469...13,845,253
Ensembl chrNW_004624781:13,756,390...13,845,479
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Arvcf
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988
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Bcr
BCR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131
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Ccdc116
coiled-coil domain containing 116
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,183,749...1,190,645
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Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chrNW_004624747:756,298...759,056
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553
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Chrd
chordin
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624730:72,201,239...72,209,843
Ensembl chrNW_004624730:72,201,644...72,209,843
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
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Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168
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CUNH22orf39
chromosome unknown C22orf39 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341
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Dgcr6l
DiGeorge syndrome critical region gene 6 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:905,239...910,562
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266
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Dicer1
dicer 1, ribonuclease III
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819
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Dock1
dedicator of cytokinesis 1
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624737:19,575,012...20,105,406
Ensembl chrNW_004624737:19,574,948...20,105,265
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Dvl1
dishevelled segment polarity protein 1
ISO
RGD
PMID:8644734
RGD:1580898
NCBI chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725
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Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism OMIM:188400
CTD MouseDO
PMID:16399080
NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
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Foxn1
forkhead box N1
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624786:1,114,305...1,127,787
Ensembl chrNW_004624786:1,114,305...1,127,683
G
Gnaz
G protein subunit alpha z
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:9,425,720...9,479,571
Ensembl chrNW_004624747:9,425,775...9,480,162
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191
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Hic2
HIC ZBTB transcriptional repressor 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,065,864...1,096,164
Ensembl chrNW_004624747:1,067,927...1,092,757
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10754480 PMID:11058894 PMID:11315851 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:14747304 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:21051477 PMID:21628466 PMID:23348805 PMID:23551881 PMID:23607861 PMID:25174781 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28862987 PMID:29417725 PMID:30814848 PMID:32741144 PMID:34373539 More...
NCBI chrNW_004624747:12,717,713...12,746,040
Ensembl chrNW_004624747:12,717,707...12,746,724
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Hoxa3
homeobox A3
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624739:3,453,358...3,498,061
Ensembl chrNW_004624739:3,478,406...3,498,333
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Kat6a
lysine acetyltransferase 6A
ISO
OMIM:188400
RGD MouseDO
PMID:22921202
RGD:9590333
NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072
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Klhl22
kelch like family member 22
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975
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LOC101713307
protein HIRA
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:9...95,643
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Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome
ClinVar
NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
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Mapk1
mitogen-activated protein kinase 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:488,396...562,084
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Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624735:9,332,637...9,545,164
Ensembl chrNW_004624735:9,332,682...9,545,157
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309
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P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624735:9,248,065...9,262,975
Ensembl chrNW_004624735:9,251,046...9,263,199
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Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684
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Plxnd1
plexin D1
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624872:542,776...571,019
Ensembl chrNW_004624872:543,553...571,019
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Ppil2
peptidylprolyl isomerase like 2
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,221,703...1,248,398
Ensembl chrNW_004624747:1,221,631...1,248,391
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Ppm1f
protein phosphatase, Mg2+/Mn2+ dependent 1F
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,417,004...1,446,211
Ensembl chrNW_004624747:1,420,835...1,446,143
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Prame
PRAME nuclear receptor transcriptional regulator
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222
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Rab36
RAB36, member RAS oncogene family
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:9,504,525...9,521,315
Ensembl chrNW_004624747:9,506,138...9,519,176
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Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043
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Rimbp3c
RIMS binding protein 3C
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,110,596...1,115,995
G
Rsph14
radial spoke head 14 homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:9,416,411...9,504,561
Ensembl chrNW_004624747:9,416,373...9,502,716
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Rtl10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:484,995...486,791
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Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991
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Scarf2
scavenger receptor class F member 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958
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Sdf2l1
stromal cell derived factor 2 like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,195,043...1,197,105
Ensembl chrNW_004624747:1,195,055...1,197,105
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:25516202 PMID:28492532
NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667
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Slc7a4
solute carrier family 7 member 4
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231
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Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1 like
ISO
ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624747:9,687,369...9,837,344
Ensembl chrNW_004624747:9,705,081...9,837,535
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:647,571...686,870
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
OMIM ClinVar
PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 PMID:15060116 PMID:15355425 PMID:15703190 PMID:16199547 PMID:17273972 PMID:17576681 PMID:18375573 PMID:19948535 PMID:20453311 PMID:20937753 PMID:21921585 PMID:24033266 PMID:24637876 PMID:24826987 PMID:24998776 PMID:25205790 PMID:25516202 PMID:25640679 PMID:25741868 PMID:25860641 PMID:26467025 PMID:26805781 PMID:26805782 PMID:27879657 PMID:28272434 PMID:28492532 PMID:28798025 PMID:29250159 PMID:29500247 PMID:30007050 PMID:30245509 PMID:30773290 PMID:31690835 PMID:32045288 PMID:32110744 PMID:32185379 PMID:32581362 PMID:33995479 PMID:34374102 More...
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
G
Tgfbr2
transforming growth factor beta receptor 2
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624788:8,447,679...8,535,821
Ensembl chrNW_004624788:8,447,542...8,535,959
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Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:31690835 PMID:32581362
NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480
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Top3b
DNA topoisomerase III beta
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,450,236...1,473,467
Ensembl chrNW_004624747:1,446,412...1,473,600
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Tp53
tumor protein p53
ISO
RGD
PMID:25197075
RGD:155641238
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947
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Tuba8
tubulin alpha 8
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624735:9,211,458...9,229,909
Ensembl chrNW_004624735:9,211,152...9,230,303
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154
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Ube2l3
ubiquitin conjugating enzyme E2 L3
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,125,009...1,178,595
Ensembl chrNW_004624747:1,125,022...1,177,524
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097
G
Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624735:9,158,597...9,187,503
G
Vegfa
vascular endothelial growth factor A
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624754:15,929,414...15,943,637
G
Ydjc
YdjC chitooligosaccharide deacetylase homolog
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,181,617...1,183,581
Ensembl chrNW_004624747:1,181,956...1,183,485
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Ypel1
yippee like 1
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:1,248,026...1,274,909
Ensembl chrNW_004624747:1,248,026...1,274,869
G
Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989
G
Znf280a
zinc finger protein 280A
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:8,841,993...8,848,484
G
Znf280b
zinc finger protein 280B
ISO
ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:32581362
NCBI chrNW_004624747:8,816,707...8,835,136
Ensembl chrNW_004624747:8,819,889...8,821,529
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Znf366
zinc finger protein 366
ISO
OMIM:188400
MouseDO
NCBI chrNW_004624905:1,523,205...1,590,722
Ensembl chrNW_004624905:1,526,693...1,544,301
G
Znf74
zinc finger protein 74
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome
ClinVar
PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 PMID:26805781 PMID:26805782 PMID:28492532 PMID:29500247 PMID:30245509 PMID:31690835 PMID:32581362 More...
NCBI chrNW_004624945:356,794...367,202
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nebl
nebulette
ISO
ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2
ClinVar
PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 PMID:28492532 PMID:28750076 PMID:33762593 More...
NCBI chrNW_004624796:7,133,915...7,498,706
Ensembl chrNW_004624796:7,133,923...7,493,673
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
ClinVar
PMID:25741868
NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955
G
Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
OMIM ClinVar
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 More...
NCBI chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379
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_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
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_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759
G
Birc3
baculoviral IAP repeat containing 3
treatment
ISO
DNA:gene fusion: (human)
RGD
PMID:21465313
RGD:153305955
NCBI chrNW_004624878:516,750...541,475
Ensembl chrNW_004624878:523,300...536,062
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_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC
ClinVar
PMID:18179888 PMID:19377476 PMID:19687455 PMID:19716112 PMID:22523091 PMID:24114807 PMID:25741868 PMID:26467025 PMID:27443559 PMID:27841901 PMID:28492532 PMID:28611399 PMID:29926425 More...
NCBI chrNW_004624808:10,924,606...10,984,422
Ensembl chrNW_004624808:10,924,248...10,965,164
G
Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis
ClinVar
PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12716377 PMID:14576041 PMID:14757862 PMID:15205266 PMID:15365097 PMID:15632205 PMID:15755897 PMID:15840696 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17525286 PMID:17601962 PMID:17606450 PMID:17674359 PMID:17873118 PMID:18190960 PMID:18710388 PMID:19487666 PMID:19595804 PMID:19639728 PMID:20015888 PMID:21152410 PMID:21234777 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22249210 PMID:22437823 PMID:23073290 PMID:23180437 PMID:23255033 PMID:23264592 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24390453 PMID:24578718 PMID:24744671 PMID:24916509 PMID:25110876 PMID:25233452 PMID:25577959 PMID:25741868 PMID:26184781 PMID:26199792 PMID:26450956 PMID:26684649 PMID:26739415 PMID:27209435 PMID:27271812 PMID:27577878 PMID:27622035 PMID:27896523 PMID:28492532 PMID:28757574 PMID:29095814 PMID:29152263 PMID:29239076 PMID:29357941 PMID:29665027 PMID:30849948 PMID:31130284 PMID:31388699 PMID:31395954 PMID:31789783 PMID:32194620 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:32914282 PMID:32963807 PMID:32986178 PMID:33365035 PMID:33570715 PMID:33658321 PMID:33746956 PMID:33822359 PMID:34083498 PMID:34992599 PMID:35835228 PMID:36706356 PMID:37390248 More...
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
G
Stx11
syntaxin 11
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis
ClinVar
PMID:20486178 PMID:24033266 PMID:24459464 PMID:25741868 PMID:26004995 PMID:28492532 PMID:36706356 PMID:39117809 More...
NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153
G
Stxbp2
syntaxin binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 PMID:22451424 PMID:22791290 PMID:23382066 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25564401 PMID:25741868 PMID:27577878 PMID:28353193 PMID:28492532 PMID:28724787 PMID:32256442 PMID:32375849 PMID:32542393 PMID:32935436 PMID:33746956 PMID:34050687 PMID:34330684 PMID:36588876 PMID:36706356 More...
NCBI chrNW_004624828:718,728...725,063
Ensembl chrNW_004624828:718,485...725,483
G
Unc13d
unc-13 homolog D
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis
ClinVar
PMID:9536098 PMID:14622600 PMID:16278825 PMID:16778144 PMID:16825436 PMID:17576681 PMID:17627755 PMID:17993578 PMID:18492689 PMID:19484379 PMID:20823128 PMID:21248318 PMID:21931115 PMID:23180437 PMID:23560006 PMID:24470399 PMID:24825797 PMID:24842371 PMID:24935083 PMID:25023975 PMID:25553300 PMID:25573973 PMID:25741868 PMID:26342526 PMID:27123661 PMID:27896523 PMID:28492532 PMID:28848550 PMID:28973083 PMID:29262924 PMID:29312353 PMID:29549174 PMID:31388699 PMID:32327331 PMID:32542393 PMID:33746956 PMID:34339548 More...
NCBI chrNW_004624801:5,720,998...5,736,122
Ensembl chrNW_004624801:5,721,391...5,736,294
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Eif4ebp2
eukaryotic translation initiation factor 4E binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar
PMID:28492532
NCBI chrNW_004624754:4,523,616...4,553,994
Ensembl chrNW_004624754:4,523,661...4,549,936
G
Il1rl1
interleukin 1 receptor like 1
treatment
ISO
associated with lymphocytic choriomeningitis associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver:
RGD
PMID:26518437
RGD:11343232
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il33
interleukin 33
ISO
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen:
RGD
PMID:26518437
RGD:11343232
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar
PMID:28492532
NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644
G
Pald1
phosphatase domain containing paladin 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar
PMID:28492532
NCBI chrNW_004624754:4,591,504...4,661,195
Ensembl chrNW_004624754:4,605,913...4,661,299
G
Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
OMIM ClinVar
PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:12725560 PMID:14576041 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15205266 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15632205 PMID:15659737 PMID:15718147 PMID:15728124 PMID:15741215 PMID:15755277 PMID:15755897 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16611257 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17311987 PMID:17328077 PMID:17356398 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17576681 PMID:17601962 PMID:17606450 PMID:17627755 PMID:17674359 PMID:17873118 PMID:18074390 PMID:18190960 PMID:18496551 PMID:18710388 PMID:18799942 PMID:18927437 PMID:19484379 PMID:19487666 PMID:19595804 PMID:19639728 PMID:20015888 PMID:20019066 PMID:20055781 PMID:20092789 PMID:20197201 PMID:20638125 PMID:21152410 PMID:21157294 PMID:21234777 PMID:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23073290 PMID:23160464 PMID:23180437 PMID:23255033 PMID:23264592 PMID:23287865 PMID:23443029 PMID:23592409 PMID:23734337 PMID:24033266 PMID:24215106 PMID:24309606 PMID:24390453 PMID:24578718 PMID:24744671 PMID:24916509 PMID:25047945 PMID:25215106 PMID:25233452 PMID:25297583 PMID:25326635 PMID:25326637 PMID:25354579 PMID:25577959 PMID:25741868 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26199792 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26597256 PMID:26684649 PMID:26739415 PMID:26903364 PMID:27033761 PMID:27209435 PMID:27271812 PMID:27290639 PMID:27391055 PMID:27535533 PMID:27577878 PMID:27622035 PMID:27872624 PMID:27896523 PMID:28353193 PMID:28492532 PMID:28750028 PMID:28863861 PMID:28936583 PMID:29095814 PMID:29113160 PMID:29152263 PMID:29216683 PMID:29239076 PMID:29263817 PMID:29357941 PMID:29665027 PMID:29777376 PMID:30104219 PMID:30539918 PMID:30697212 PMID:30849948 PMID:30899265 PMID:31055813 PMID:31130284 PMID:31388699 PMID:31395954 PMID:31664448 PMID:31789783 PMID:31932842 PMID:32150605 PMID:32194620 PMID:32342501 PMID:32356861 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:32853466 PMID:32914282 PMID:32963807 PMID:32986178 PMID:33225392 PMID:33258288 PMID:33365035 PMID:33566725 PMID:33570715 PMID:33658321 PMID:33746956 PMID:33822359 PMID:33869605 PMID:33942430 PMID:34083498 PMID:34117267 PMID:34170459 PMID:34339548 PMID:34677667 PMID:34938098 PMID:35835228 PMID:36706356 PMID:37390248 PMID:37467895 PMID:37678575 PMID:37992218 PMID:38212754 PMID:38383762 PMID:38474010 PMID:38810947 More...
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Unc13d
unc-13 homolog D
susceptibility
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition DNA:deletions, insertion, snps:exons, intron:multiple (human)
OMIM ClinVar RGD
PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:15548590 PMID:16199547 PMID:16278825 PMID:16365863 PMID:16778144 PMID:16825436 PMID:17576681 PMID:17627755 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:19903216 PMID:20015888 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21182842 PMID:21248318 PMID:21370424 PMID:21600143 PMID:21653941 PMID:21674762 PMID:21755595 PMID:21881043 PMID:21931115 PMID:22508512 PMID:23180437 PMID:23560006 PMID:23669735 PMID:23672263 PMID:23774160 PMID:23840885 PMID:24033266 PMID:24043286 PMID:24139496 PMID:24309606 PMID:24459464 PMID:24470399 PMID:24825797 PMID:24842371 PMID:24916509 PMID:24935083 PMID:25023975 PMID:25502423 PMID:25553300 PMID:25573973 PMID:25741868 PMID:25901543 PMID:26342526 PMID:26419432 PMID:26684649 PMID:26764160 PMID:27123661 PMID:27164702 PMID:27209435 PMID:27408432 PMID:27781387 PMID:27872624 PMID:27896523 PMID:27914778 PMID:28353193 PMID:28399723 PMID:28492532 PMID:28748566 PMID:28848550 PMID:28973083 PMID:29113160 PMID:29262924 PMID:29312353 PMID:29357941 PMID:29409136 PMID:29415165 PMID:29549174 PMID:29665027 PMID:29783935 PMID:29864493 PMID:29930202 PMID:30220951 PMID:30899265 PMID:31388699 PMID:31664448 PMID:31681265 PMID:32100410 PMID:32135276 PMID:32222431 PMID:32245292 PMID:32327331 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32853466 PMID:32888943 PMID:33225392 PMID:33365035 PMID:33658321 PMID:33746956 PMID:34083498 PMID:34106167 PMID:34170459 PMID:34339548 PMID:34677667 PMID:34868048 PMID:35902954 PMID:36155879 PMID:36192439 PMID:36706356 PMID:37288985 More...
RGD:1600451
NCBI chrNW_004624801:5,720,998...5,736,122
Ensembl chrNW_004624801:5,721,391...5,736,294
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fuca2
alpha-L-fucosidase 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chrNW_004624753:10,767,093...10,782,963
Ensembl chrNW_004624753:10,767,162...10,783,669
G
Ltv1
LTV1 ribosome biogenesis factor
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chrNW_004624753:10,428,383...10,444,913
G
Pex3
peroxisomal biogenesis factor 3
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chrNW_004624753:10,787,513...10,826,099
Ensembl chrNW_004624753:10,786,599...10,826,255
G
Phactr2
phosphatase and actin regulator 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chrNW_004624753:10,456,910...10,742,311
G
Plagl1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chrNW_004624753:10,292,050...10,359,424
Ensembl chrNW_004624753:10,292,038...10,359,480
G
Sf3b5
splicing factor 3b subunit 5
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chrNW_004624753:10,227,419...10,228,106
Ensembl chrNW_004624753:10,227,560...10,227,820
G
Stx11
syntaxin 11
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: STX11-related condition
OMIM ClinVar
PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 PMID:24033266 PMID:24459464 PMID:24524345 PMID:24916509 PMID:25741868 PMID:26004995 PMID:26176172 PMID:28492532 PMID:28750028 PMID:29113160 PMID:29665027 PMID:30899265 PMID:36706356 PMID:39117809 More...
NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153
G
Zc2hc1b
zinc finger C2HC-type containing 1B
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar
PMID:28492532
NCBI chrNW_004624753:10,363,904...10,428,199
Ensembl chrNW_004624753:10,364,724...10,419,837
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Camsap3
calmodulin regulated spectrin associated protein family member 3
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:689,010...703,496
Ensembl chrNW_004624828:688,564...704,174
G
Ccl25
C-C motif chemokine ligand 25
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:975,656...981,610
G
Cd320
CD320 molecule
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:1,102,016...1,106,314
Ensembl chrNW_004624828:1,102,306...1,106,211
G
Cers4
ceramide synthase 4
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:1,074,920...1,092,607
Ensembl chrNW_004624828:1,074,942...1,092,647
G
Clec4g
C-type lectin domain family 4 member G
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:775,114...778,526
Ensembl chrNW_004624828:773,569...778,615
G
Ctxn1
cortexin 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:887,006...888,524
Ensembl chrNW_004624828:887,005...888,430
G
Elavl1
ELAV like RNA binding protein 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:913,001...948,826
Ensembl chrNW_004624828:914,141...948,831
G
Evi5l
ecotropic viral integration site 5 like
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:821,719...847,953
Ensembl chrNW_004624828:828,381...847,975
G
Fbn3
fibrillin 3
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:982,424...1,043,157
G
Fcer2
Fc fragment of IgE receptor II
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:747,800...754,185
Ensembl chrNW_004624828:748,671...754,185
G
Lrrc8e
leucine rich repeat containing 8 VRAC subunit E
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:859,419...868,595
Ensembl chrNW_004624828:860,744...868,595
G
Map2k7
mitogen-activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:869,424...878,358
Ensembl chrNW_004624828:869,425...878,231
G
Mcemp1
mast cell expressed membrane protein 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:740,146...742,922
G
Mcoln1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:634,318...643,406
Ensembl chrNW_004624828:634,214...643,633
G
Pcp2
Purkinje cell protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:19804848 PMID:22451424 PMID:28492532
NCBI chrNW_004624828:713,796...719,287
Ensembl chrNW_004624828:713,799...715,442
G
Pet100
PET100 homolog
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:19804848 PMID:22451424 PMID:28492532
NCBI chrNW_004624828:712,087...713,801
Ensembl chrNW_004624828:712,171...713,801
G
Pnpla6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:643,552...664,665
Ensembl chrNW_004624828:643,471...664,665
G
Retn
resistin
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:735,562...737,166
Ensembl chrNW_004624828:735,503...737,166
G
Snapc2
small nuclear RNA activating complex polypeptide 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:882,370...885,866
Ensembl chrNW_004624828:883,194...885,408
G
Stx11
syntaxin 11
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:15703195
NCBI chrNW_004624753:10,150,811...10,180,794
Ensembl chrNW_004624753:10,148,416...10,191,153
G
Stxbp2
syntaxin binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: STXBP2-related condition
OMIM ClinVar
PMID:9536098 PMID:10788461 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 PMID:20102228 PMID:20558610 PMID:20798128 PMID:20823128 PMID:21881043 PMID:22336081 PMID:22451424 PMID:22791290 PMID:22796692 PMID:23382066 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25564401 PMID:25741868 PMID:25901543 PMID:26451869 PMID:26684649 PMID:27209435 PMID:27379089 PMID:27577878 PMID:27781387 PMID:27848944 PMID:28353193 PMID:28380445 PMID:28399723 PMID:28492532 PMID:28724787 PMID:28748566 PMID:29599780 PMID:29665027 PMID:30104219 PMID:30697212 PMID:30899265 PMID:31130284 PMID:31286990 PMID:31388699 PMID:31513353 PMID:31976148 PMID:32256442 PMID:32375849 PMID:32531373 PMID:32542393 PMID:32935436 PMID:33162974 PMID:33746956 PMID:34050687 PMID:34249802 PMID:34330684 PMID:34336208 PMID:34630398 PMID:35207437 PMID:35296096 PMID:36510129 PMID:36588876 PMID:36706356 PMID:37477760 More...
NCBI chrNW_004624828:718,728...725,063
Ensembl chrNW_004624828:718,485...725,483
G
Tgfbr3l
transforming growth factor beta receptor 3 like
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:878,551...882,179
Ensembl chrNW_004624828:878,741...881,510
G
Timm44
translocase of inner mitochondrial membrane 44
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:888,999...903,496
Ensembl chrNW_004624828:888,606...902,927
G
Trappc5
trafficking protein particle complex subunit 5
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:743,324...744,990
Ensembl chrNW_004624828:743,350...744,986
G
Xab2
XPA binding protein 2
ISO
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5
ClinVar
PMID:28492532
NCBI chrNW_004624828:704,400...711,963
Ensembl chrNW_004624828:704,300...712,251
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Rc3h1
ring finger and CCCH-type domains 1
ISO
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6
OMIM ClinVar
PMID:25741868
NCBI chrNW_004624771:7,837,547...7,948,217
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il1rl1
interleukin 1 receptor like 1
ISO
RGD
PMID:27592711
RGD:40400889
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma
ClinVar
PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 PMID:33060403 PMID:34075200 More...
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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_004624946:885,400...902,082
Ensembl chrNW_004624946:884,685...902,365
G
Atp6v1b2
ATPase H+ transporting V1 subunit B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chrNW_004624758:15,910,189...15,933,975
Ensembl chrNW_004624758:15,910,132...15,935,160
G
Bcl10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: Follicular lymphoma
ClinVar
PMID:9989495
NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759
G
Bcl2
BCL2 apoptosis regulator
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:translocation: ;t(14;18)(q32;q21)
RGD CTD
PMID:3287162 PMID:12855623 PMID:16671111
RGD:1599473 RGD:734639
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
G
Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)
RGD
PMID:20473910
RGD:5490541
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
ISO
human gene in a mouse model
RGD
PMID:25582824
RGD:11344981
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
G
Ebf1
EBF transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004624733:30,327,541...30,735,432
Ensembl chrNW_004624733:30,333,504...30,733,267
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196
G
Irf4
interferon regulatory factor 4
severity
ISO
RGD
PMID:17296585
RGD:11530032
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
G
Kdsr
3-ketodihydrosphingosine reductase
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8417785 PMID:25526675
RGD:1598985
NCBI chrNW_004624792:9,038,076...9,081,650
Ensembl chrNW_004624792:9,040,999...9,082,154
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24362818
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
G
Rarres1
retinoic acid receptor responder 1
ISO
OMIM:151430
MouseDO
NCBI chrNW_004624730:36,404,953...36,434,723
Ensembl chrNW_004624730:36,405,270...36,434,630
G
Rragc
Ras related GTP binding C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26691987
NCBI chrNW_004624764:21,460,669...21,475,470
Ensembl chrNW_004624764:21,460,666...21,475,439
G
Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16410450
NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600
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_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cma1
chymase 1
ISO
mRNA:increased expression:tumor (rat)
RGD
PMID:15723097
RGD:5128499
NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:24372369
RGD:10402806
NCBI chrNW_004624733:39,412,800...39,420,079
G
Mif
macrophage migration inhibitory factor
ISO
associated with Kidney Diseases
RGD
PMID:11126199
RGD:1642009
NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821
G
Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20679225
RGD:5508736
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891
G
LOC101698338
E3 SUMO-protein ligase RanBP2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21030459
NCBI chrNW_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Griscelli syndrome
ClinVar
PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25741868 PMID:26684649 PMID:28492532 More...
NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Myo5a
myosin VA
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition
OMIM ClinVar
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32275080 More...
NCBI chrNW_004624731:8,114,557...8,280,586
Ensembl chrNW_004624731:8,113,715...8,280,823
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccpg1
cell cycle progression 1
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:28492532
NCBI chrNW_004624731:6,260,560...6,286,432
Ensembl chrNW_004624731:6,257,130...6,288,880
G
Dnaaf4
dynein axonemal assembly factor 4
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:28492532
NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793
G
Pierce2
piercer of microtubule wall 2
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:28492532
NCBI chrNW_004624853:138,153...139,077
G
Pigb
phosphatidylinositol glycan anchor biosynthesis class B
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar
PMID:10835631 PMID:23160464 PMID:28492532
NCBI chrNW_004624731:6,286,406...6,306,070
Ensembl chrNW_004624731:6,283,848...6,305,855
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome
OMIM ClinVar
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16199547 PMID:16278825 PMID:16551969 PMID:17085000 PMID:17576681 PMID:18350256 PMID:18397837 PMID:18403584 PMID:19030707 PMID:19953648 PMID:22475297 PMID:23160464 PMID:24033266 PMID:24678334 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25801174 PMID:25901543 PMID:26025024 PMID:26684649 PMID:26880764 PMID:27016801 PMID:27416802 PMID:27781387 PMID:28353193 PMID:28492532 PMID:28585352 PMID:28936583 PMID:29357941 PMID:29522846 PMID:30104219 PMID:30290665 PMID:30697212 PMID:30899265 PMID:30934652 PMID:31164711 PMID:31233462 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32655337 PMID:32853466 PMID:32856792 PMID:32860008 PMID:32888943 PMID:32965739 PMID:33225392 PMID:33362801 PMID:34170459 PMID:34329649 PMID:34573280 PMID:34796988 PMID:37273692 More...
NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mlph
melanophilin
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition
OMIM ClinVar
PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 PMID:26337734 PMID:26915675 PMID:28492532 PMID:30389201 PMID:31721180 PMID:32864751 More...
NCBI chrNW_004624847:2,919,391...2,958,459
Ensembl chrNW_004624847:2,919,404...2,958,554
G
Myo5a
myosin VA
ISO
ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar
PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056
NCBI chrNW_004624731:8,114,557...8,280,586
Ensembl chrNW_004624731:8,113,715...8,280,823
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_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
RGD
PMID:9613675
RGD:11522762
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
G
Map2k1
mitogen-activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241536
NCBI chrNW_004624781:6,222,365...6,285,398
Ensembl chrNW_004624781:6,222,365...6,285,531
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd163
CD163 molecule
ISO
protein:increased expression:blood serum (human)
RGD
PMID:15613100
RGD:127285796
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
G
Elp1
elongator acetyltransferase complex subunit 1
ISO
MouseDO
NCBI chrNW_004624758:2,575,516...2,646,313
Ensembl chrNW_004624758:2,575,671...2,646,313
G
Havcr2
hepatitis A virus cellular receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30374066
NCBI chrNW_004624733:32,521,318...32,527,499
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:26914138
RGD:11529541
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
G
Il18
interleukin 18
ISO
associated with Epstein-Barr Virus Infections;protein:increased expression:serum
RGD
PMID:20472718
RGD:8655917
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Prf1
perforin 1
ISO
associated with Lymphocytic Choriomeningitis
RGD
PMID:20049711
RGD:6482810
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
G
Rab27a
RAB27A, member RAS oncogene family
ISO
MouseDO
NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccbe1
collagen and calcium binding EGF domains 1
ISO
ClinVar Annotator: match by term: CCBE1-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 PMID:21778431 PMID:22239599 PMID:23653581 PMID:24033266 PMID:24167460 PMID:25741868 PMID:25814692 PMID:26686525 PMID:27323140 PMID:28073151 PMID:28492532 PMID:28985353 PMID:31345219 PMID:31453292 PMID:32472549 PMID:32629717 More...
NCBI chrNW_004624792:4,863,978...5,146,907
Ensembl chrNW_004624792:4,867,858...5,146,839
G
Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
ClinVar
PMID:25741868
NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2
OMIM ClinVar
PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868 PMID:26325558 PMID:28492532 More...
NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Adamts3
ADAM metallopeptidase with thrombospondin type 1 motif 3
ISO
ClinVar Annotator: match by term: ADAMTS3-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763
NCBI chrNW_004624890:3,738,727...3,925,377
Ensembl chrNW_004624890:3,738,186...3,925,491
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ccbe1
collagen and calcium binding EGF domains 1
ISO
ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED
ClinVar
PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 PMID:28985353 PMID:32472549 PMID:32629717 More...
NCBI chrNW_004624792:4,863,978...5,146,907
Ensembl chrNW_004624792:4,867,858...5,146,839
G
Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Krt18
keratin 18
disease_progression
ISO
protein:increased expression:serum (mouse, human)
RGD
PMID:21357724
RGD:21406434
NCBI chrNW_004624904:1,011,675...1,015,319
Ensembl chrNW_004624904:1,011,755...1,015,416
G
Serpinf1
serpin family F member 1
ISO
RGD
PMID:9038736
RGD:30296660
NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Flt4
fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Primary congenital lymphedema
ClinVar
PMID:10835628 PMID:16965327 PMID:25741868
NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
G
Vegfc
vascular endothelial growth factor C
ISO
OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907
MouseDO
NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
ClinVar
PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892
NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
G
Flt4
fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
ClinVar
PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 PMID:16965327 PMID:19002718 PMID:19289394 PMID:20301417 PMID:23074044 PMID:24033266 PMID:24167460 PMID:25741868 PMID:30232381 PMID:30582441 More...
NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
ClinVar
PMID:25741868 PMID:28492532 PMID:28687708 PMID:30760892
NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
G
Flt4
fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Hereditary lymphedema type I
OMIM ClinVar
PMID:9817924 PMID:10835628 PMID:10856194 PMID:15904433 PMID:16924388 PMID:16965327 PMID:19002718 PMID:19289394 PMID:20301417 PMID:23074044 PMID:24033266 PMID:24167460 PMID:25741868 PMID:30232381 PMID:30582441 More...
NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
G
Gja1
gap junction protein alpha 1
ISO
ClinVar Annotator: match by term: Edema of the dorsum of feet
ClinVar
PMID:25741868
NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gjc2
gap junction protein gamma 2
ISO
ClinVar Annotator: match by term: Lymphedema, hereditary, IC
OMIM ClinVar
PMID:20537300 PMID:21266381 PMID:25741868 PMID:28492532 PMID:29451896 PMID:31912665 PMID:32581362 More...
NCBI chrNW_004624937:898,876...905,247
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Vegfc
vascular endothelial growth factor C
ISO
ClinVar Annotator: match by term: Lymphedema, hereditary, ID
OMIM ClinVar
PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673
NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12727634 PMID:15071507 PMID:15731174 PMID:15770702 PMID:16199547 PMID:17576681 PMID:18223550 PMID:19953608 PMID:19967552 PMID:20674517 PMID:21147755 PMID:21390052 PMID:21664875 PMID:22527898 PMID:24033266 PMID:24144642 PMID:25741868 PMID:25762520 PMID:25917813 PMID:25981738 PMID:26122175 PMID:26123418 PMID:26476407 PMID:26822949 PMID:28492532 PMID:29167666 PMID:32888943 PMID:34426522 PMID:36546626 More...
NCBI chrNW_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250
G
Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:25741868
NCBI chrNW_004624767:10,604,914...10,678,207
Ensembl chrNW_004624767:10,604,254...10,678,224
G
Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532
NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859
G
Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18822103 PMID:19011808 PMID:19178939 PMID:19830075 PMID:20109747 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28083621 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28783691 PMID:29107076 PMID:29772310 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31503426 PMID:31980526 PMID:32000930 PMID:32447396 PMID:32655540 PMID:33193364 PMID:33365035 PMID:33628209 PMID:34664192 PMID:34889447 PMID:36279417 PMID:39062069 More...
NCBI chrNW_004624767:10,694,867...10,698,041
Ensembl chrNW_004624767:10,694,867...10,698,001
G
Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16960852 PMID:17476358 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:19470080 PMID:19912631 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24481607 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:28970295 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:35281013 PMID:35902420 More...
NCBI chrNW_004624767:10,678,547...10,680,130
Ensembl chrNW_004624767:10,678,359...10,680,132
G
Suv39h2
SUV39H2 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Histiocytic medullary reticulosis
ClinVar
PMID:25741868
NCBI chrNW_004624805:594,986...619,115
Ensembl chrNW_004624805:597,406...618,969
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc29a3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22238637
NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc29a3
solute carrier family 29 member 3
ISO
ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
OMIM ClinVar
PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 PMID:16650224 PMID:17461801 PMID:17576681 PMID:18410979 PMID:18414213 PMID:18940313 PMID:18947330 PMID:19175903 PMID:19336477 PMID:19889517 PMID:20140240 PMID:20199539 PMID:20595384 PMID:20619369 PMID:21178579 PMID:21888995 PMID:22238637 PMID:22653152 PMID:22679148 PMID:22875837 PMID:23406517 PMID:23530176 PMID:23789599 PMID:24172204 PMID:24894595 PMID:25741868 PMID:25963354 PMID:25967258 PMID:26074390 PMID:27143505 PMID:27215564 PMID:27364927 PMID:28492532 PMID:28554179 PMID:28729424 PMID:29041934 PMID:29751792 PMID:29808591 PMID:30537558 PMID:30783801 PMID:31276222 PMID:31464584 PMID:32151906 PMID:33837634 PMID:33947670 PMID:34657628 More...
NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778
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_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7621881 PMID:8656679
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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_004624786:10,195,337...10,197,963
G
Cflar
CASP8 and FADD like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17659339
NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17562247
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:28492532 PMID:32934698
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
G
Fgfr4
fibroblast growth factor receptor 4
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:32934698
NCBI chrNW_004624733:12,964,893...12,979,198
Ensembl chrNW_004624733:12,964,746...12,976,732
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392
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_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:21466366
RGD:11049168
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il6
interleukin 6
treatment
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080 PMID:21466366
RGD:11049165 RGD:11049168
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chrNW_004624862:1,537,886...1,540,633
Ensembl chrNW_004624862:1,538,455...1,539,426
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:12145210
RGD:1549449
NCBI chrNW_004624901:402,969...404,741
Ensembl chrNW_004624901:403,235...404,269
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_004624730:3,182,881...3,187,714
Ensembl chrNW_004624730:3,182,827...3,187,714
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:16361624 PMID:16618717 PMID:18316791 PMID:19114683 PMID:19679400 PMID:20147967 PMID:20570890 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21398618 PMID:25157968 PMID:25251940 PMID:25741868 PMID:26110767 PMID:26970110 PMID:28492532 PMID:30289595 PMID:30891959 PMID:32934698 More...
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
G
Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7545087
NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995
G
Mthfd2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24688052
NCBI chrNW_004624749:29,264,577...29,276,769
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Classic Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:32934698
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
G
Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion:C-terminally truncated protein
CTD RGD
PMID:10340377 PMID:10556199 PMID:19223558
RGD:2298893 RGD:2298894
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
G
Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
mRNA:increased expression:lymphoid tissue (human)
RGD
PMID:26044287
RGD:11060455
NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222
G
Ptpn1
protein tyrosine phosphatase non-receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24531327
NCBI chrNW_004624790:5,070,537...5,135,243
Ensembl chrNW_004624790:5,073,476...5,135,181
G
Rel
REL proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21037568
NCBI chrNW_004624833:1,016,330...1,053,514
Ensembl chrNW_004624833:1,022,656...1,053,342
G
Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:9746758
RGD:9743928
NCBI chrNW_004624738:2,920,154...2,938,035
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_004624818:957,597...996,565
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_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15877736
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Sox18
SRY-box transcription factor 18
ISO
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome | ClinVar Annotator: match by term: SOX18-related condition
OMIM ClinVar
PMID:11701398 PMID:12740761 PMID:24697860 PMID:25741868 PMID:26148450 PMID:28492532 PMID:31358114 More...
NCBI chrNW_004624741:29,679,274...29,681,069
Ensembl chrNW_004624741:29,679,091...29,681,049
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Sox18
SRY-box transcription factor 18
ISO
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OMIM ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
NCBI chrNW_004624741:29,679,274...29,681,069
Ensembl chrNW_004624741:29,679,091...29,681,049
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_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737 PMID:24584070
NCBI chrNW_004624730:3,316,122...3,361,820
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413737
NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Oas1
2'-5'-oligoadenylate synthetase 1
ISO
ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia
OMIM ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 PMID:34145065 More...
NCBI chrNW_004624747:19,428,994...19,434,512
Ensembl chrNW_004624747:19,428,833...19,434,550
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_004624784:14,427,297...14,439,027
Ensembl chrNW_004624784:14,427,130...14,439,038
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_004624829:4,329,959...4,714,329
Ensembl chrNW_004624829:4,329,824...4,714,298
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies
ClinVar OMIM
PMID:19020503 PMID:25741868 PMID:33517393
NCBI chrNW_004624759:3,258,324...3,315,265
Ensembl chrNW_004624759:3,276,741...3,312,601
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_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Faslg
Fas ligand
ISO
protein:increased expression:lymphocyte, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
G
Foxp3
forkhead box P3
disease_progression
ISO
RGD
PMID:23628056
RGD:38501103
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
G
Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33571934
RGD:126790542
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
G
Sod2
superoxide dismutase 2
ISO
RGD
PMID:7964476
RGD:11035288
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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_004624902:1,042,766...1,053,131
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_004624902:861,362...865,926
Ensembl chrNW_004624902:863,592...865,532
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_004624902:957,669...962,015
Ensembl chrNW_004624902:957,669...962,039
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_004624902:1,075,902...1,085,596
Ensembl chrNW_004624902:1,074,925...1,084,909
G
Armcx6
armadillo repeat containing X-linked 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:966,797...969,992
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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:1,391,144...1,500,323
Ensembl chrNW_004624814:8,820,811...8,823,072
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_004624902:1,755,308...1,780,826
G
Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:1,270,925...1,313,122
Ensembl chrNW_004624902:1,270,959...1,313,097
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_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177
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_004624902:1,157,747...1,163,435
Ensembl chrNW_004624902:1,157,752...1,163,281
G
Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:1,741,921...1,754,932
Ensembl chrNW_004624902:1,736,704...1,755,504
G
Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:2,354,109...2,502,478
Ensembl chrNW_004624902:2,354,856...2,502,527
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_004624902:1,944,073...1,967,106
Ensembl chrNW_004624902:1,944,019...1,964,983
G
Sytl4
synaptotagmin like 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:1,876,608...1,945,728
Ensembl chrNW_004624902:1,876,516...1,942,265
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_004624902:1,239,776...1,267,443
Ensembl chrNW_004624902:1,243,817...1,256,209
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_004624902:1,216,991...1,223,426
G
Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:1,501,186...1,513,036
Ensembl chrNW_004624902:1,500,874...1,513,127
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Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:2,019,649...2,038,203
Ensembl chrNW_004624902:2,019,185...2,038,311
G
Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:1,977,700...1,985,004
Ensembl chrNW_004624902:1,978,467...1,986,303
G
Xkrx
XK related X-linked
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chrNW_004624902:1,677,588...1,694,988
Ensembl chrNW_004624902:1,678,615...1,696,820
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_004624790:4,366,440...4,484,279
Ensembl chrNW_004624790:4,366,406...4,484,432
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
MouseDO
NCBI chrNW_004624747:5,703,647...5,755,344
Ensembl chrNW_004624747:5,704,477...5,755,321
G
Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
MouseDO
NCBI chrNW_004624730:58,436,427...58,471,926
Ensembl chrNW_004624730:58,436,469...58,471,799
G
Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31443223 PMID:31650533 PMID:31772028 PMID:31879361 More...
NCBI chrNW_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756
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CUNH1orf127
chromosome unknown C1orf127 homolog
ISO
MouseDO
NCBI chrNW_004624818:1,799,997...1,826,300
Ensembl chrNW_004624818:1,809,875...1,826,350
G
Daw1
dynein assembly factor with WD repeats 1
ISO
MouseDO
NCBI chrNW_004624843:2,058,443...2,105,646
Ensembl chrNW_004624843:2,058,330...2,108,045
G
Dnaaf1
dynein axonemal assembly factor 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:19944400 PMID:19944405 PMID:28492532
NCBI chrNW_004624746:3,412,888...3,441,710
G
Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532
NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968
G
Dnaaf19
dynein axonemal assembly factor 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581229
NCBI chrNW_004624795:404,102...407,025
Ensembl chrNW_004624795:404,068...406,979
G
Dnaaf2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:19052621 PMID:24498942
NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505
G
Dnaaf3
dynein axonemal assembly factor 3
ISO
CTD Direct Evidence: marker/mechanism
MouseDO CTD
PMID:22387996
NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537
G
Dnaaf4
dynein axonemal assembly factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23872636
NCBI chrNW_004624731:6,215,798...6,270,210
Ensembl chrNW_004624731:6,215,737...6,241,793
G
Dnah1
dynein axonemal heavy chain 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:25927852 PMID:28492532 PMID:32719396
NCBI chrNW_004624822:4,818,972...4,882,076
Ensembl chrNW_004624822:4,819,019...4,878,438
G
Dnah11
dynein axonemal heavy chain 11
susceptibility
ISO
DNA:nonsense mutation, missense mutation:R2852X, R3004Q
RGD MouseDO
PMID:12142464
RGD:734893
NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815
G
Dnah5
dynein axonemal heavy chain 5
susceptibility
ISO
DNA:mutations ClinVar Annotator: match by term: Kartagener syndrome
RGD ClinVar
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31443223 More...
RGD:1601080
NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403
G
Dnai1
dynein axonemal intermediate chain 1
susceptibility
ISO
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S ClinVar Annotator: match by term: Kartagener syndrome
RGD ClinVar
PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 PMID:17576681 PMID:18434704 PMID:18492703 PMID:19300481 PMID:21143860 PMID:21270641 PMID:22416021 PMID:23477994 PMID:24033266 PMID:24498942 PMID:24912412 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28152038 PMID:28492532 PMID:28939216 PMID:28952366 PMID:29363216 PMID:30067075 PMID:30868567 PMID:31589614 PMID:33032373 PMID:33447612 PMID:33678284 PMID:34277212 PMID:35626283 PMID:36809189 More...
RGD:1601083
NCBI chrNW_004624736:38,858,918...38,922,092
Ensembl chrNW_004624736:38,859,050...38,922,097
G
Dnai2
dynein axonemal intermediate chain 2
ISO
MouseDO
NCBI chrNW_004624801:4,252,779...4,284,432
Ensembl chrNW_004624801:4,252,814...4,280,227
G
Dnal1
dynein axonemal light chain 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:21496787
NCBI chrNW_004624734:27,844,412...27,885,770
Ensembl chrNW_004624734:27,854,031...27,885,696
G
Drc1
dynein regulatory complex subunit 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624738:8,540,863...8,599,386
Ensembl chrNW_004624738:8,541,063...8,599,491
G
Foxj1
forkhead box J1
ISO
MouseDO
NCBI chrNW_004624801:6,025,756...6,030,487
Ensembl chrNW_004624801:6,025,793...6,030,486
G
Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype:promoter:
RGD
PMID:24753481
RGD:11250592
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Odad1
outer dynein arm docking complex subunit 1
ISO
ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 PMID:27637300 PMID:28492532 More...
NCBI chrNW_004624832:5,439,764...5,460,822
G
Odad2
outer dynein arm docking complex subunit 2
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532
NCBI chrNW_004624805:6,192,843...6,365,982
Ensembl chrNW_004624805:6,193,217...6,362,776
G
Odad3
outer dynein arm docking complex subunit 3
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532
NCBI chrNW_004624828:3,207,935...3,218,795
Ensembl chrNW_004624828:3,208,153...3,218,637
G
Polr2k
RNA polymerase II, I and III subunit K
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24055112
NCBI chrNW_004624763:7,068,000...7,071,752
Ensembl chrNW_004624763:7,068,012...7,071,799
G
Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 PMID:30609409 PMID:31772028 PMID:31980526 PMID:32253119 More...
NCBI chrNW_004624745:28,009,028...28,020,007
Ensembl chrNW_004624745:28,008,959...28,021,529
G
Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 PMID:28492532 PMID:34513534 More...
NCBI chrNW_004624798:13,022,429...13,046,836
Ensembl chrNW_004624798:13,023,982...13,046,116
G
Slit2
slit guidance ligand 2
ISO
MouseDO
NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266
G
Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 More...
NCBI chrNW_004624763:7,074,468...7,141,388
Ensembl chrNW_004624763:7,082,692...7,140,453
G
Zmynd10
zinc finger MYND-type containing 10
ISO
ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 PMID:33635866 More...
NCBI chrNW_004624730:4,190,706...4,195,003
Ensembl chrNW_004624730:4,190,633...4,194,963
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16982510
RGD:5686751
NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
G
Ager
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:22337222
RGD:8695960
NCBI chrNW_004624754:24,138,086...24,140,900
G
Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446961
NCBI chrNW_004624758:25,129,922...25,180,180
Ensembl chrNW_004624758:25,129,853...25,181,761
G
Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22446961 PMID:22446962 PMID:22645426
RGD:8547776
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:12563087
RGD:11352236
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Clu
clusterin
treatment
ISO
RGD
PMID:23956692
RGD:8975365
NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357
G
Crp
C-reactive protein
susceptibility
ISO
DNA:SNP: :1444 C-->T(human)
RGD
PMID:18710885
RGD:9495921
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
G
Eln
elastin
ISO
RGD
PMID:21356372
RGD:9585741
NCBI chrNW_004624740:13,856,932...13,886,266
G
Fcgr2a
Fc fragment of IgG receptor IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22081228 PMID:22446962
NCBI chrNW_004624826:23,930...34,735
G
Flt1
fms related receptor tyrosine kinase 1
ISO
RGD
PMID:11839635
RGD:1582494
NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104
G
Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18720262
RGD:8695977
NCBI chrNW_004624776:7,858,400...7,862,716
Ensembl chrNW_004624776:7,793,259...7,863,184
G
Hmox1
heme oxygenase 1
no_association
ISO
RGD
PMID:14521259
RGD:1598409
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
G
Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chrNW_004624754:24,403,438...24,423,477
Ensembl chrNW_004624754:24,416,738...24,424,613
G
Il13
interleukin 13
ISO
RGD
PMID:21958311
RGD:5684363
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
Il18
interleukin 18
disease_progression susceptibility
ISO
DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human) DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human)
RGD
PMID:15345916 PMID:18484687 PMID:19288449
RGD:8655874 RGD:8655898 RGD:8655924
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:8777922 PMID:22361326
RGD:6482661 RGD:7401221
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:22367425
RGD:7829825
NCBI chrNW_004624733:39,412,800...39,420,079
G
Itpkc
inositol-trisphosphate 3-kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18084290
NCBI chrNW_004624925:645,528...663,768
Ensembl chrNW_004624925:645,385...662,580
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:15144709 PMID:24721319
RGD:8693744 RGD:8693748
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:blood
RGD
PMID:12626459 PMID:18311803
RGD:1580170 RGD:8547899
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
G
Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma
RGD
PMID:21410593
RGD:5685654
NCBI chrNW_004624818:1,139,776...1,141,010
G
Selp
selectin P
ISO
RGD
PMID:20079717
RGD:6478695
NCBI chrNW_004624826:7,510,039...7,544,332
Ensembl chrNW_004624826:7,511,646...7,537,924
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:blood
RGD
PMID:12626459
RGD:1580170
NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912
G
Tlr4
toll like receptor 4
ISO
mRNA:increased expression:monocyte:
RGD
PMID:18353240
RGD:7777156
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Tnf
tumor necrosis factor
susceptibility treatment
ISO
DNA:SNP: :-308G>A (human)
RGD
PMID:8777922 PMID:14703611 PMID:14744383 PMID:18710885
RGD:1580318 RGD:7401183 RGD:7401221 RGD:9495921
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15470196
RGD:1580572
NCBI chrNW_004624754:15,929,414...15,943,637
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
OMIM:246400 | OMIM:604856
MouseDO
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ctps2
CTP synthase 2
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
NCBI chrNW_004624829:1,373,568...1,438,052
Ensembl chrNW_004624829:1,386,544...1,438,052
G
Dnah11
dynein axonemal heavy chain 11
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
PMID:18022865 PMID:20513915 PMID:22184204 PMID:28492532 PMID:31040315 PMID:32502479 More...
NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815
G
Dnah2
dynein axonemal heavy chain 2
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
NCBI chrNW_004624786:10,311,183...10,413,236
Ensembl chrNW_004624786:10,311,214...10,413,037
G
Flna
filamin A
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273
G
Rnf128
ring finger protein 128
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
NCBI chrNW_004624803:10,019,526...10,133,155
Ensembl chrNW_004624803:10,019,424...10,133,234
G
Sh3kbp1
SH3 domain containing kinase binding protein 1
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
PMID:28492532
NCBI chrNW_004624829:4,329,959...4,714,329
Ensembl chrNW_004624829:4,329,824...4,714,298
G
Smc6
structural maintenance of chromosomes 6
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
NCBI chrNW_004624738:612,758...689,191
Ensembl chrNW_004624738:614,402...681,430
G
Sytl5
synaptotagmin like 5
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
NCBI chrNW_004624762:17,401,304...17,659,757
Ensembl chrNW_004624762:17,400,875...17,547,947
G
Usp45
ubiquitin specific peptidase 45
ISO
ClinVar Annotator: match by term: Laterality defects, autosomal dominant
ClinVar
NCBI chrNW_004624810:5,508,912...5,574,233
Ensembl chrNW_004624810:5,508,882...5,574,395
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acvr2b
activin A receptor type 2B
ISO
DNA:missense mutation:exon 2:R40H (human) DNA:missense mutation:cds:p.R383C (human) DNA:missense mutation:exon 2:c.119G>A,p.R40H (human)
RGD
PMID:9916847 PMID:21864452 PMID:30622330
RGD:329849115 RGD:329849116 RGD:329853750
NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035
G
Lefty2
left-right determination factor 2
ISO
ClinVar Annotator: match by term: Left-right axis malformations
ClinVar
PMID:10053005 PMID:25741868 PMID:28492532
NCBI chrNW_004624807:71,011...75,210
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Sting1
stimulator of interferon response cGAMP interactor 1
disease_progression
ISO
associated with herpes simplex
RGD
PMID:27511736
RGD:39128217
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
RGD
PMID:10676886
RGD:14398737
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
DNA:point mutation:exon :p.S259A (mouse)
RGD
PMID:23391722
RGD:12910710
NCBI chrNW_004624872:204,357...284,487
Ensembl chrNW_004624872:204,357...269,135
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_004624842:4,470,551...4,523,174
Ensembl chrNW_004624842:4,471,360...4,522,849
G
Cpt1a
carnitine palmitoyltransferase 1A
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004624767:18,109,011...18,161,378
Ensembl chrNW_004624767:18,109,008...18,161,639
G
Esr1
estrogen receptor 1
ISO
RGD
PMID:18285421
RGD:4892300
NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735
G
Gls
glutaminase
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004624854:5,106,419...5,202,445
Ensembl chrNW_004624854:5,108,566...5,202,240
G
Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chrNW_004624730:63,563,848...63,566,303
Ensembl chrNW_004624730:63,563,754...63,566,781
G
Jag2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chrNW_004624734:308,371...327,496
Ensembl chrNW_004624734:308,375...327,604
G
Mmp3
matrix metallopeptidase 3
treatment
ISO
RGD
PMID:23035046
RGD:8693678
NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum, plasma
RGD
PMID:18760908
RGD:5129697
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
G
Nos3
nitric oxide synthase 3
ISO
protein:increased expression:lung
RGD
PMID:11306434
RGD:4892080
NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
G
Nthl1
nth like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624913:203,065...209,758
Ensembl chrNW_004624913:202,988...209,289
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar
PMID:25741868
NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
G
Pkm
pyruvate kinase M1/2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32078667
NCBI chrNW_004624781:1,796,909...1,823,787
Ensembl chrNW_004624781:1,796,801...1,824,144
G
Rictor
RPTOR independent companion of MTOR complex 2
ISO
protein:increased expression:lung (human)
RGD
PMID:29885404
RGD:152995523
NCBI chrNW_004624759:15,837,027...15,973,248
Ensembl chrNW_004624759:15,837,064...15,968,894
G
Srf
serum response factor
ISO
RGD
PMID:12654640
RGD:1580753
NCBI chrNW_004624754:16,371,995...16,381,287
G
Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
G
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_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011
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_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953
G
Vegfd
vascular endothelial growth factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chrNW_004624829:148,371...181,742
Ensembl chrNW_004624829:148,317...181,098
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gja1
gap junction protein alpha 1
ISO
RGD
PMID:27899284
RGD:13592598
NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313
G
Hoxa3
homeobox A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1673020
NCBI chrNW_004624739:3,453,358...3,498,061
Ensembl chrNW_004624739:3,478,406...3,498,333
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Angpt2
angiopoietin 2
ISO
ClinVar Annotator: match by term: Lymphatic malformation 10
OMIM ClinVar
PMID:25741868 PMID:32908006
NCBI chrNW_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623
G
Mcph1
microcephalin 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 10
ClinVar
PMID:25741868 PMID:32908006
NCBI chrNW_004624861:4,373,743...4,556,933
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tie1
tyrosine kinase with immunoglobulin like and EGF like domains 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 11
OMIM ClinVar
PMID:32947856
NCBI chrNW_004624892:2,626,999...2,645,841
Ensembl chrNW_004624892:2,626,875...2,645,841
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Lymphatic malformation 12
OMIM ClinVar
PMID:25741868 PMID:35235341
NCBI chrNW_004624827:4,499,655...4,586,301
Ensembl chrNW_004624827:4,499,287...4,585,771
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 13
ClinVar OMIM
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873
NCBI chrNW_004624748:1,843,361...1,875,748
Ensembl chrNW_004624748:1,846,249...1,875,156
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Erg
ETS transcription factor ERG
ISO
ClinVar Annotator: match by term: Lymphatic malformation 14
OMIM ClinVar
PMID:36928819
NCBI chrNW_004624745:25,239,356...25,457,533
Ensembl chrNW_004624745:25,294,832...25,459,683
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Piezo1
piezo type mechanosensitive ion channel component 1 (Er blood group)
ISO
ClinVar Annotator: match by term: Diffuse lymphatic malformation | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition
OMIM ClinVar
PMID:7090030 PMID:9536098 PMID:11001917 PMID:17576681 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:25741889 PMID:26333996 PMID:26780541 PMID:27250707 PMID:27479843 PMID:28492532 PMID:28619848 PMID:28716860 PMID:29396846 PMID:29786897 PMID:30187933 PMID:30237269 PMID:30244526 PMID:30655378 PMID:30867417 PMID:31040790 PMID:31624108 PMID:31670187 PMID:31680349 PMID:32251670 PMID:32410215 PMID:33027564 PMID:33686258 PMID:34201899 PMID:34656527 PMID:34681667 PMID:34737711 PMID:36122374 PMID:36595486 PMID:36701166 PMID:36959127 More...
NCBI chrNW_004624746:821,651...871,481
Ensembl chrNW_004624746:821,726...871,481
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Tbx19
T-box transcription factor 19
ISO
ClinVar Annotator: match by term: Lymphedema, hereditary, III
ClinVar
PMID:25741868
NCBI chrNW_004624826:6,243,809...6,268,973
Ensembl chrNW_004624826:6,243,809...6,267,989
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Calcrl
calcitonin receptor like receptor
ISO
ClinVar Annotator: match by term: Lymphatic malformation 8
OMIM ClinVar
PMID:25741868
NCBI chrNW_004624899:2,487,261...2,593,304
Ensembl chrNW_004624899:2,487,225...2,594,780
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Celsr1
cadherin EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9
OMIM ClinVar
PMID:25741868 PMID:26855770 PMID:28492532 PMID:31215153 PMID:31403174
NCBI chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abca13
ATP binding cassette subfamily A member 13
susceptibility
ISO
DNA:amplification:cds: (human, male)
RGD
PMID:27366209
RGD:152995256
NCBI chrNW_004624740:5,112,422...5,488,394
Ensembl chrNW_004624740:5,114,019...5,488,385
G
Adam28
ADAM metallopeptidase domain 28
ISO
associated with breast cancer;DNA:hypermethylation:
RGD
PMID:25620615
RGD:153298970
NCBI chrNW_004624758:19,427,871...19,499,510
Ensembl chrNW_004624758:19,432,817...19,497,686
G
Adgrb1
adhesion G protein-coupled receptor B1
disease_progression
ISO
associated with stomach cancer;
RGD
PMID:11172604
RGD:13831357
NCBI chrNW_004624735:14,049,621...14,126,287
Ensembl chrNW_004624735:14,050,213...14,113,534
G
Aicda
activation induced cytidine deaminase
ISO
associated with stomach cancer;protein:increased expression:stomach (human)
RGD
PMID:21538122
RGD:127285638
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Angptl4
angiopoietin like 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17130448
NCBI chrNW_004624828:1,152,788...1,158,864
Ensembl chrNW_004624828:1,152,891...1,158,420
G
Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381893
NCBI chrNW_004624811:765,338...782,203
Ensembl chrNW_004624811:764,940...782,198
G
Aqp3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chrNW_004624736:38,194,722...38,200,961
Ensembl chrNW_004624736:38,194,545...38,201,036
G
Arhgap5
Rho GTPase activating protein 5
ISO
associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx
RGD
PMID:25961434
RGD:11056278
NCBI chrNW_004624820:302,000...381,043
Ensembl chrNW_004624820:305,475...381,058
G
Asxl1
ASXL transcriptional regulator 1
ISO
associated with colorectal cancer
RGD
PMID:32317519
RGD:126779580
NCBI chrNW_004624741:188,985...258,065
Ensembl chrNW_004624741:188,745...250,142
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Axl
AXL receptor tyrosine kinase
ISO
associated Pancreatic Neoplasms
RGD
PMID:19252414
RGD:2325833
NCBI chrNW_004624907:76,236...106,765
Ensembl chrNW_004624907:77,806...106,228
G
Bag1
BAG cochaperone 1
disease_progression
ISO
associated with Breast Neoplasms:protein:increased expression:breast
RGD
PMID:18430249
RGD:2292908
NCBI chrNW_004624736:38,015,150...38,025,079
Ensembl chrNW_004624736:38,015,044...38,025,079
G
Bambi
BMP and activin membrane bound inhibitor
ISO
associated with stomach cancer; protein:increased expression: :
RGD
PMID:24752577
RGD:14390158
NCBI chrNW_004624805:1,967,174...1,973,030
Ensembl chrNW_004624805:1,967,101...1,974,898
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Barhl2
BarH like homeobox 2
ISO
associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa
RGD
PMID:27542258
RGD:14390167
NCBI chrNW_004624742:7,027,122...7,033,342
Ensembl chrNW_004624742:7,027,069...7,034,308
G
Bcl2
BCL2 apoptosis regulator
ISO
associated with Breast Neoplasms;protein:increased expression:lymph node
RGD
PMID:18217456
RGD:2293013
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
G
Bik
BCL2 interacting killer
ISO
associated with cholangiocarcinoma;DNA:CNV::
RGD
PMID:16865775
RGD:14394820
NCBI chrNW_004624752:5,839,422...5,856,350
G
Birc5
baculoviral IAP repeat containing 5
disease_progression
ISO
associated with Cervix Neoplasms;mRNA:splice variant associated with Breast Neoplasms
RGD
PMID:17285241 PMID:17877643
RGD:2293098 RGD:2293103
NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29426936
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
G
Brd7
bromodomain containing 7
severity
ISO
protein:increased expression:lung:
RGD
PMID:22008115
RGD:9586442
NCBI chrNW_004624757:6,294,559...6,335,401
Ensembl chrNW_004624757:6,294,415...6,335,285
G
Bsg
basigin (Ok blood group)
disease_progression
ISO
associated with Breast Neoplasms
RGD
PMID:16004819
RGD:2289055
NCBI chrNW_004624828:7,913,297...7,920,891
Ensembl chrNW_004624828:7,913,099...7,920,804
G
Btk
Bruton tyrosine kinase
disease_progression
ISO
associated with lung adenocarcinoma;protein:increased expression:lung (human)
RGD
PMID:31200752
RGD:151347847
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Ca9
carbonic anhydrase 9
ISO
associated with Cervix Neoplasms
RGD
PMID:17233814
RGD:2293196
NCBI chrNW_004624868:5,110,602...5,131,167
Ensembl chrNW_004624868:5,109,846...5,116,949
G
Cab39
calcium binding protein 39
ISO
associated with pancreatic cancer;RNA:increased expression:pancreas
RGD
PMID:28197410
RGD:14398834
NCBI chrNW_004624843:4,129,755...4,217,406
Ensembl chrNW_004624843:4,130,052...4,217,540
G
Casp9
caspase 9
ISO
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP:exon:rs1052576 (human)
RGD
PMID:17285546
RGD:13434907
NCBI chrNW_004624764:1,769,270...1,789,399
Ensembl chrNW_004624764:1,773,455...1,789,423
G
Cav1
caveolin 1
disease_progression
ISO
associated with Melanoma
RGD
PMID:22134245
RGD:8661767
NCBI chrNW_004624827:2,844,855...2,878,367
Ensembl chrNW_004624827:2,844,115...2,879,179
G
Cbl
Cbl proto-oncogene
ISO
associated with stomach carcinoma;protein:increased expression:stomach
RGD
PMID:31611438
RGD:126925223
NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
G
Cblb
Cbl proto-oncogene B
ISO
associated with stomach carcinoma;
RGD
PMID:20038312
RGD:150540338
NCBI chrNW_004624731:43,803,743...44,018,682
Ensembl chrNW_004624731:43,803,768...44,015,870
G
Ccnd2
cyclin D2
ISO
associated with colorectal cancer;protein:increased expression:colorectum
RGD
PMID:19508551
RGD:151665111
NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
G
Ccne1
cyclin E1
ISO
associated with Carcinoma, Transitional Cell;protein:decreased expression
RGD
PMID:16949911
RGD:2289266
NCBI chrNW_004624794:4,957,156...4,967,058
Ensembl chrNW_004624794:4,957,178...4,967,140
G
Ccnh
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
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Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16530813
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
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Cd40
CD40 molecule
ISO
associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human)
RGD
PMID:21912605
RGD:8547780
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd44
CD44 molecule (IN blood group)
ISO
associated with Breast Neoplasms, Colorectal Neoplasms, Stomach Neoplasms;mRNA, protein:splice variant, increased expression:breast, large intestine, stomach
RGD
PMID:16425351
RGD:2289356
NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069
G
Cdh1
cadherin 1
ISO
associated with Cervix Neoplasms associated with Breast Neoplasms
RGD
PMID:17649807 PMID:18097581
RGD:2289498 RGD:2296046
NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
associated with Eyelid Neoplasms; associated with Oral Squamous Cell Carcinoma;
RGD
PMID:15817070 PMID:19628749
RGD:8661799 RGD:8662374
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
G
Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
associated with non-small cell lung carcinoma associated with Breast Neoplasms
RGD
PMID:12015771 PMID:28601655
RGD:13673921 RGD:2293607
NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114
G
Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chrNW_004624730:66,885,674...66,902,345
Ensembl chrNW_004624730:66,885,319...66,903,079
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Clptm1l
CLPTM1 like
ISO
associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus
RGD
PMID:25480402
RGD:150530497
NCBI chrNW_004624751:652,857...669,400
Ensembl chrNW_004624751:652,767...669,587
G
Clu
clusterin
ISO
associated with breast cancer;DNA:snp:promoter:g.27611345C>G (rs9331888) (human)
RGD
PMID:22037783
RGD:8963167
NCBI chrNW_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357
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Comt
catechol-O-methyltransferase
ISO
associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human)
RGD
PMID:10755383
RGD:8662330
NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
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Crp
C-reactive protein
susceptibility
ISO
associated with Breast Neoplasm; DNA:polymorphism: :1846C>T(rs1205)(human)
RGD
PMID:24633920
RGD:9580226
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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Csf1r
colony stimulating factor 1 receptor
ISO
associated with Breast Neoplasms
RGD
PMID:14734466
RGD:2293711
NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
associated with Prostatic Neoplasms
RGD
PMID:10611340
RGD:4891523
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
Ctnna1
catenin alpha 1
ISO
associated with Breast Neoplasms
RGD
PMID:12047765
RGD:2289795
NCBI chrNW_004624743:31,512,481...31,700,340
G
Ctnnb1
catenin beta 1
ISO
associated with Breast Neoplasms;protein:decreased expression
RGD
PMID:17908479
RGD:2289813
NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
G
Cxcl12
C-X-C motif chemokine ligand 12
disease_progression
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:21633638
RGD:152023624
NCBI chrNW_004624922:1,261,228...1,273,755
Ensembl chrNW_004624922:1,261,228...1,273,758
G
Cxcr4
C-X-C motif chemokine receptor 4
ISO
associated with nasopharynx carcinoma; protein:increased expression:lymph node (human)
RGD
PMID:16000558
RGD:151893515
NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528
G
Ddr1
discoidin domain receptor tyrosine kinase 1
severity
ISO
mRNA:increased expression:kidney, lymph nodes (human) mRNA, protein:increased expression:mouth (human)
RGD
PMID:27020590 PMID:31253192
RGD:151347620 RGD:151347863
NCBI chrNW_004624754:24,881,439...24,905,633
Ensembl chrNW_004624754:24,880,496...24,896,995
G
Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
associated with oral squamous cell carcinoma
RGD
PMID:29945346
RGD:150429700
NCBI chrNW_004624826:1,225,217...1,255,889
Ensembl chrNW_004624826:1,173,621...1,249,692
G
Dnmt3b
DNA methyltransferase 3 beta
ISO
associated with Carcinoma, Pancreatic Ductal;
RGD
PMID:22919364
RGD:9589121
NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785
G
Ebag9
estrogen receptor binding site associated antigen 9
ISO
associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node associated with Breast Neoplasms;protein:increased expression:breast
RGD
PMID:12054692 PMID:12845666 PMID:17187007
RGD:2289847 RGD:2289856 RGD:2298489
NCBI chrNW_004624763:8,621,666...8,649,109
Ensembl chrNW_004624763:8,621,638...8,650,016
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Egfr
epidermal growth factor receptor
treatment
ISO
associated with Squamous Cell Carcinoma of the Tongue
RGD
PMID:19380367
RGD:8551769
NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
G
Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
associated with Melanoma; associated with Esophageal Squamous Cell Carcinoma;
RGD
PMID:24658378 PMID:24805087
RGD:9590069 RGD:9590071
NCBI chrNW_004624754:24,354,271...24,368,319
Ensembl chrNW_004624754:24,354,284...24,368,638
G
Epha2
EPH receptor A2
ISO
protein:increased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chrNW_004624764:2,265,114...2,296,032
Ensembl chrNW_004624764:2,264,945...2,296,197
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder associated with lung adenocarcinoma; protein:increased expression:lung (human) CTD Direct Evidence: marker/mechanism associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V
RGD CTD
PMID:18097576 PMID:18237248 PMID:21532492 PMID:21966491
RGD:153344600 RGD:2289925 RGD:2289926
NCBI chrNW_004624795:3,373,313...3,391,509
Ensembl chrNW_004624795:3,373,000...3,391,602
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
associated with head and neck squamous cell carcinoma associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus
RGD
PMID:17634423 PMID:20604875
RGD:126790467 RGD:2289944
NCBI chrNW_004624802:11,906,279...11,925,530
Ensembl chrNW_004624802:11,905,271...11,925,707
G
Erbb4
erb-b2 receptor tyrosine kinase 4
severity disease_progression
ISO
associated with colorectal adenocarcinoma associated with lung non-small cell carcinoma associated with oral squamous cell carcinoma
RGD
PMID:16507107 PMID:21324275 PMID:27444519
RGD:126781762 RGD:126781766 RGD:126790471
NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585
G
Fas
Fas cell surface death receptor
susceptibility
ISO
associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A
RGD
PMID:18068525
RGD:2298509
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Fgf1
fibroblast growth factor 1
ISO
associated with Cervix Neoplasms;mRNA:increased expression:lymph node
RGD
PMID:17242701
RGD:2290286
NCBI chrNW_004624774:1,779,168...1,867,321
Ensembl chrNW_004624774:1,779,170...1,867,300
G
Fgfr2
fibroblast growth factor receptor 2
ISO
associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human)
RGD
PMID:20640597
RGD:7394846
NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529
G
Flt3
fms related receptor tyrosine kinase 3
disease_progression
ISO
associated with Prostatic Neoplasms
RGD
PMID:14566827
RGD:2302210
NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066
G
Foxa1
forkhead box A1
ISO
associated with lung non-small cell carcinoma; mRNA:increased expression: :
RGD
PMID:29115441
RGD:151665751
NCBI chrNW_004624955:234,289...239,541
Ensembl chrNW_004624955:231,506...239,508
G
Foxp1
forkhead box P1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25485836
NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
G
Gpx3
glutathione peroxidase 3
ISO
associated with stomach carcinoma; DNA:hypermethylation:promoter
RGD
PMID:23071548
RGD:151665353
NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993
G
Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004624810:2,731,573...3,407,186
Ensembl chrNW_004624810:2,733,118...3,401,909
G
Hmgb1
high mobility group box 1
ISO
associated with Adenocarcinoma, Colon
RGD
PMID:20616616
RGD:10402080
NCBI chrNW_004624776:7,858,400...7,862,716
Ensembl chrNW_004624776:7,793,259...7,863,184
G
Icam1
intercellular adhesion molecule 1
ISO
associated with Breast Neoplasms
RGD
PMID:21590495
RGD:8547712
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
G
Ier2
immediate early response 2
ISO
RGD
PMID:22120713
RGD:153323322
NCBI chrNW_004624901:684,313...686,488
Ensembl chrNW_004624901:684,966...685,652
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Il13
interleukin 13
ISO
associated with Melanoma, Cutaneous Malignant;mRNA:increased expression:lymph node
RGD
PMID:17545514
RGD:8549587
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
Il18
interleukin 18
ISO
associated with Breast Neoplasms;protein:increased expression:serum
RGD
PMID:12902898
RGD:8655867
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Ing4
inhibitor of growth family member 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27806345
NCBI chrNW_004624860:3,353,443...3,362,541
Ensembl chrNW_004624860:3,353,489...3,362,430
G
Itgb1
integrin subunit beta 1
ISO
associated with non-small cell lung carcinoma,
RGD
PMID:28537888
RGD:13792830
NCBI chrNW_004624805:8,748,848...8,800,259
Ensembl chrNW_004624805:8,765,949...8,802,149
G
Kcnj12
potassium inwardly rectifying channel subfamily J member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34755307
NCBI chrNW_004624849:5,092,750...5,132,246
G
Kdr
kinase insert domain receptor
treatment
ISO
associated with Squamous Cell Carcinoma of the Tongue
RGD
PMID:19380367
RGD:8551769
NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
G
Kiss1
KiSS-1 metastasis suppressor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21383688
NCBI chrNW_004624807:6,800,144...6,805,555
Ensembl chrNW_004624807:6,803,265...6,805,433
G
Klf7
KLF transcription factor 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:37734194
NCBI chrNW_004624765:8,823,319...8,914,016
Ensembl chrNW_004624765:8,823,251...8,910,068
G
Kmt2d
lysine methyltransferase 2D
ISO
associated with stomach cancer
RGD
PMID:30177394
RGD:150521710
NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
G
Lamc2
laminin subunit gamma 2
ISO
associated with lung squamous cell carcinoma;
RGD
PMID:23124251
RGD:13793371
NCBI chrNW_004624814:10,475,629...10,536,694
Ensembl chrNW_004624814:10,476,323...10,536,724
G
LOC101718508
cytochrome c, somatic
ISO
associated with non-small cell lung carcinoma; protein:decreased expression:serum
RGD
PMID:25578497
RGD:13792769
NCBI chrNW_004624739:5,411,192...5,413,995
Ensembl chrNW_004624739:5,411,273...5,413,995
G
Lrrc59
leucine rich repeat containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004624795:6,317,677...6,328,554
Ensembl chrNW_004624795:6,316,472...6,329,166
G
Macir
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004624743:21,372,253...21,389,202
Ensembl chrNW_004624743:21,372,278...21,387,871
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29426936
NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995
G
Mmp2
matrix metallopeptidase 2
disease_progression
ISO
associated with Carcinoma, Ductal, Breast associated with Tongue Neoplasms
RGD
PMID:23107277 PMID:23280016
RGD:8547824 RGD:8655998
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
G
Mmp3
matrix metallopeptidase 3
ISO
associated with breast cancer;DNA:deletion:promoter:-1170_-1172delA (human)
RGD
PMID:15161710
RGD:8662937
NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075
G
Mmp9
matrix metallopeptidase 9
disease_progression
ISO
associated with Tongue Neoplasms associated with Carcinoma, Non-Small-Cell Lung;protein:increased expression:serum associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:12487935 PMID:20704821 PMID:23107277
RGD:2298523 RGD:5129215 RGD:8547824
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
G
Msh2
mutS homolog 2
ISO
associated with laryngeal squamous cell carcinoma
RGD
PMID:24459922
RGD:126848797
NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
G
Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22644300
NCBI chrNW_004624913:1,566,516...1,576,605
Ensembl chrNW_004624913:1,570,832...1,580,058
G
Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259
G
Muc1
mucin 1, cell surface associated
ISO
associated with Carcinoma, Renal Cell; associated with Esophageal Neoplasms associated with Common Bile Duct Neoplasms associated with Gallbladder Neoplasms;protein:altered localization:gallbladder
RGD
PMID:10390012 PMID:11295067 PMID:16222735 PMID:21339746
RGD:2324649 RGD:2324860 RGD:7245968 RGD:7349383
NCBI chrNW_004624885:2,339,281...2,343,351
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
associated with chloangiocarcinoma;protein:increased expression:bile duct
RGD
PMID:16842244
RGD:2325168
NCBI chrNW_004624766:21,439,023...21,461,108
G
Ncam1
neural cell adhesion molecule 1
ISO
RGD
PMID:10086383
RGD:2326067
NCBI chrNW_004624784:8,339,582...8,635,025
Ensembl chrNW_004624784:8,339,916...8,636,012
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Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with Breast Neoplasms;DNA:polymorphisms:promoter, exon:-786T>C,p.E298D (human)
RGD
PMID:17262178
RGD:2292070
NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
associated with breast cancer;DNA:missense mutation:cds:p.S326C (rs1052133) (human)
RGD
PMID:18977234
RGD:8657156
NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196
G
Pagr1
PAXIP1 associated glutamate rich protein 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chrNW_004624782:13,387,155...13,390,153
Ensembl chrNW_004624782:13,387,376...13,389,740
G
Pdgfa
platelet derived growth factor subunit A
ISO
associated with Breast Neoplasms;mRNA:increased expression:breast
RGD
PMID:8619189
RGD:2292155
NCBI chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866
G
Pdgfb
platelet derived growth factor subunit B
ISO
associated with Breast Neoplasms;mRNA:increased expression:lymph node
RGD
PMID:17674348
RGD:2292173
NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
G
Pdpk1
3-phosphoinositide dependent protein kinase 1
ISO
associated with non-small cell lung carcinoma;mRNA:increased expression:blood serum
RGD
PMID:25064732
RGD:13503320
NCBI chrNW_004624824:279,893...383,220
Ensembl chrNW_004624824:293,374...383,156
G
Pdpn
podoplanin
ISO
associated with Cervix Neoplasms associated with Breast Neoplasms
RGD
PMID:16528371 PMID:18165897
RGD:2292231 RGD:2292237
NCBI chrNW_004624764:163,370...192,770
G
Pebp1
phosphatidylethanolamine binding protein 1
ISO
associated with Breast Neoplasms associated with Cervix Neoplasms
RGD
PMID:16243812 PMID:18191186
RGD:2302867 RGD:2302868
NCBI chrNW_004624747:15,340,020...15,346,960
Ensembl chrNW_004624747:15,339,844...15,346,970
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
associated with Colorectal Neoplasms
RGD
PMID:25550888
RGD:13432030
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
G
Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
ISO
associated with Colorectal Neoplasms
RGD
PMID:25550888
RGD:13432030
NCBI chrNW_004624730:15,226,786...15,399,097
Ensembl chrNW_004624730:15,226,379...15,355,857
G
Pip5k1a
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34755307
NCBI chrNW_004624772:18,616,095...18,658,016
Ensembl chrNW_004624772:18,616,121...18,658,286
G
Pou5f1
POU class 5 homeobox 1
ISO
associated with Seminoma; associated with Carcinoma, Embryonal
RGD
PMID:15386301
RGD:2292442
NCBI chrNW_004624754:24,758,055...24,764,723
G
Pparg
peroxisome proliferator activated receptor gamma
ISO
associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium
RGD
PMID:20021832
RGD:2317459
NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481
G
Prex1
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1
ISO
associated with Prostatic Neoplasms
RGD
PMID:19305425
RGD:2314605
NCBI chrNW_004624790:6,453,085...6,622,179
Ensembl chrNW_004624790:6,453,066...6,637,597
G
Pten
phosphatase and tensin homolog
ISO
associated with Prostatic Neoplasms;protein:decreased expression:prostate associated with Breast Neoplasms
RGD
PMID:17163422 PMID:17919877
RGD:2292499 RGD:2292507
NCBI chrNW_004624791:13,975,235...14,056,900
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with Biliary Tract Neoplasms associated with Breast Neoplasms associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human)
RGD
PMID:18159174 PMID:18353210 PMID:20016751
RGD:2300128 RGD:2317165 RGD:5135471
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
G
Ptk2
protein tyrosine kinase 2
ISO
associated with lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node
RGD
PMID:23906871
RGD:152176664
NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071
G
Ptpn13
protein tyrosine phosphatase non-receptor type 13
ISO
associated with lung squamous cell carcinoma; protein:decreased expression:lymph node
RGD
PMID:23906871
RGD:152176664
NCBI chrNW_004624872:3,183,381...3,406,339
Ensembl chrNW_004624872:3,226,000...3,405,805
G
Ramp2
receptor activity modifying protein 2
disease_progression
ISO
associated with colorectal cancer; protein:increased expression:lymph node (human)
RGD
PMID:23634287
RGD:151708733
NCBI chrNW_004624795:1,435,121...1,436,421
G
Ramp3
receptor activity modifying protein 3
ISO
associated with colorectal cancer; protein:increased expression:lymph node (human)
RGD
PMID:23634287
RGD:151708733
NCBI chrNW_004624740:7,240,841...7,249,313
Ensembl chrNW_004624740:7,241,296...7,249,410
G
Rassf2
Ras association domain family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17013896
NCBI chrNW_004624741:5,851,260...5,894,972
Ensembl chrNW_004624741:5,857,607...5,894,969
G
Rbm10
RNA binding motif protein 10
ISO
associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human)
RGD
PMID:30405763
RGD:151356993
NCBI chrNW_004624887:3,921,934...3,953,739
Ensembl chrNW_004624887:3,923,986...3,957,133
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland
RGD
PMID:17020979
RGD:2298757
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
G
Ret
ret proto-oncogene
ISO
associated with Pancreatic Neoplasms
RGD
PMID:18652760
RGD:2324925
NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281
G
Rhoa
ras homolog family member A
ISO
associated with Bladder Neoplasms;protein:increased expression:lymph node associated with colorectal cancer
RGD
PMID:12855641 PMID:17597401
RGD:13432052 RGD:2298872
NCBI chrNW_004624730:3,316,122...3,361,820
G
Rictor
RPTOR independent companion of MTOR complex 2
ISO
associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human)
RGD
PMID:20978191
RGD:152995469
NCBI chrNW_004624759:15,837,027...15,973,248
Ensembl chrNW_004624759:15,837,064...15,968,894
G
Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19381893
NCBI chrNW_004624764:10,859,556...10,860,876
Ensembl chrNW_004624764:10,859,667...10,860,413
G
Skp2
S-phase kinase associated protein 2
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:16080017
RGD:2315043
NCBI chrNW_004624759:18,796,055...18,858,692
Ensembl chrNW_004624759:18,830,323...18,858,712
G
Slc7a5
solute carrier family 7 member 5
severity
ISO
associated with stomach carcinoma associated with gastric adenocarcinoma;protein:increased expression: :
RGD
PMID:21501294 PMID:25908107
RGD:11052781 RGD:151361203
NCBI chrNW_004624746:1,325,368...1,349,616
G
Smad4
SMAD family member 4
ISO
associated with Breast Neoplasms
RGD
PMID:11809701
RGD:2300007
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
G
Smo
smoothened, frizzled class receptor
ISO
associated with colorectal cancer
RGD
PMID:30784110
RGD:150520177
NCBI chrNW_004624783:7,012,385...7,039,302
Ensembl chrNW_004624783:7,011,899...7,039,921
G
Sncg
synuclein gamma
ISO
RGD
PMID:15221989
RGD:6478801
NCBI chrNW_004624841:192,396...196,568
Ensembl chrNW_004624841:192,398...196,064
G
Socs2
suppressor of cytokine signaling 2
ISO
associated with Prostatic Neoplasms
RGD
PMID:16707422
RGD:2298925
NCBI chrNW_004624750:13,333,393...13,339,018
G
Socs3
suppressor of cytokine signaling 3
ISO
associated with Breast Neoplasms
RGD
PMID:18097573
RGD:2298901
NCBI chrNW_004624801:7,841,230...7,843,912
Ensembl chrNW_004624801:7,840,889...7,843,860
G
Sod2
superoxide dismutase 2
disease_progression
ISO
associated with tongue neoplasms; CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10853026 PMID:19381893 PMID:20618948
RGD:8547519
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
G
Sox2
SRY-box transcription factor 2
disease_progression
ISO
associated with Breast Neoplasms
RGD
PMID:24382260
RGD:8661670
NCBI chrNW_004624730:59,570,879...59,573,001
Ensembl chrNW_004624730:59,570,915...59,571,871
G
Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
associated with colon adenocarcinoma,
RGD
PMID:21282564
RGD:150520218
NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132
G
St14
ST14 transmembrane serine protease matriptase
ISO
associated with Endometrial Neoplasms
RGD
PMID:19443387
RGD:2315087
NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21549414
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
G
Stk11
serine/threonine kinase 11
ISO
associated with Breast Neoplasms;protein:decreased expression
RGD
PMID:12114407
RGD:2291948
NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
G
Tert
telomerase reverse transcriptase
disease_progression
ISO
associated with lung non-small cell carcinoma;
RGD
PMID:11679180
RGD:152977755
NCBI chrNW_004624751:624,569...647,198
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:12487935
RGD:2298523
NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912
G
Timp3
TIMP metallopeptidase inhibitor 3
ISO
associated with Breast Neoplasms;mRNA:increased expression:breast
RGD
PMID:12828172
RGD:2290437
NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385
G
Timp4
TIMP metallopeptidase inhibitor 4
ISO
associated with Breast Neoplasms;mRNA:increased expression:breast
RGD
PMID:12828172
RGD:2290437
NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299
G
Tlr4
toll like receptor 4
ISO
associated with Carcinoma, Ductal, Breast;
RGD
PMID:23338716
RGD:7794684
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Tp53
tumor protein p53
ISO
associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P associated with Penile Neoplasms associated with Carcinoma, Squamous Cell;
RGD
PMID:18059331 PMID:18230179 PMID:18268397
RGD:2290533 RGD:2290534 RGD:8547790
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Tp53bp1
tumor protein p53 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chrNW_004624804:10,517,531...10,612,238
Ensembl chrNW_004624804:10,517,696...10,591,688
G
Tsc2
TSC complex subunit 2
ISO
associated with Breast Neoplasms
RGD
PMID:15951164
RGD:11568707
NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953
G
Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9062474
NCBI chrNW_004624734:20,880,438...21,050,756
Ensembl chrNW_004624734:20,882,154...21,050,626
G
Ttr
transthyretin
ISO
associated with colorectal cancer;protein:decreased expresion:blood serum (human)
RGD
PMID:21074777
RGD:151665155
NCBI chrNW_004624770:1,255,401...1,262,019
Ensembl chrNW_004624770:1,251,716...1,262,213
G
Tymp
thymidine phosphorylase
ISO
associated with Breast Neoplasms associated with Cholangiocarcinoma
RGD
PMID:10685502 PMID:11927969
RGD:2293725 RGD:2325027
NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
G
Vegfa
vascular endothelial growth factor A
ISO
associated with Breast neoplasms; associated with Cervix Neoplasms
RGD
PMID:17597103 PMID:19783962
RGD:2315454 RGD:7421574
NCBI chrNW_004624754:15,929,414...15,943,637
G
Vegfc
vascular endothelial growth factor C
exacerbates disease_progression
ISO
associated with Lymphatic Metastasis; associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human) associated with Breast Neoplasms associated with Prostatic Neoplasms associated with thyroid diseases;mRNA:increased expression:thyroid gland: associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder associated with Cervix Neoplasms
RGD
PMID:12203051 PMID:15289890 PMID:17034609 PMID:18061373 PMID:19589137 PMID:19608016 PMID:19923084 More...
RGD:155630642 RGD:2315469 RGD:2315474 RGD:2315475 RGD:2315484 RGD:7483611 RGD:7488946
NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450
G
Vegfd
vascular endothelial growth factor D
ISO
associated with Cervix Neoplasms associated with Breast Neoplasms
RGD
PMID:17951197 PMID:19589137
RGD:2315475 RGD:2315480
NCBI chrNW_004624829:148,371...181,742
Ensembl chrNW_004624829:148,317...181,098
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Wrap53
WD repeat containing antisense to TP53
ISO
associated with esophagus squamous cell carcinoma; associated with lung non-small cell carcinoma;
RGD
PMID:24626331 PMID:31281482
RGD:21081513 RGD:21081532
NCBI chrNW_004624786:10,283,721...10,296,568
Ensembl chrNW_004624786:10,283,984...10,296,729
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acta2
actin alpha 2, smooth muscle
ISO
mRNA:increased expression:adipose tissue:
RGD
PMID:21510802
RGD:12879442
NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508
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Dchs1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Lymphedema
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624817:8,111,714...8,147,699
Ensembl chrNW_004624817:8,111,718...8,134,342
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Flt4
fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Early onset lymphedema
ClinVar
PMID:10835628 PMID:16965327 PMID:25741868
NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
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Foxc2
forkhead box C2
ISO
lymphedema-distichiasis syndrome,OMIM:153400;DNA:insertion:1006insA lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA
RGD
PMID:11371511 PMID:15523639
RGD:1601216 RGD:1601217
NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085
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Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892158
NCBI chrNW_004624961:147,685...155,614
Ensembl chrNW_004624961:143,358...154,003
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Gjc2
gap junction protein gamma 2
ISO
DNA:missense mutations:cds:p.S48L, p.M210R (human) DNA:missense mutations:cds:multiple (human)
RGD
PMID:20537300 PMID:21266381
RGD:13208589 RGD:13208590
NCBI chrNW_004624937:898,876...905,247
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lymphedema | ClinVar Annotator: match by term: Lymphoedema
ClinVar
PMID:18564920 PMID:24339735 PMID:24728327 PMID:25637381 PMID:25741868 PMID:28492532 PMID:30530636 More...
NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995
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Pgf
placental growth factor
ISO
associated with Elephantiasis, Filarial;protein:increased expression:plasma
RGD
PMID:20889885
RGD:6483608
NCBI chrNW_004624734:26,751,986...26,764,154
Ensembl chrNW_004624734:26,751,530...26,764,242
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome | ClinVar Annotator: match by term: FOXC2-related condition
OMIM ClinVar
PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 PMID:12485195 PMID:16081467 PMID:18197197 PMID:19760751 PMID:20301630 PMID:22768468 PMID:24278289 PMID:25252123 PMID:25741868 PMID:27276711 PMID:28492532 PMID:28724617 PMID:31460188 PMID:32411386 PMID:33461977 PMID:33897756 PMID:35716761 More...
NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
ClinVar
PMID:15523639
NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085
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_004624748:1,413,754...1,529,646
Ensembl chrNW_004624748:1,413,983...1,529,992
G
Foxo3
forkhead box O3
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374
G
Foxo4
forkhead box O4
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chrNW_004624903:1,390,899...1,399,745
Ensembl chrNW_004624903:1,391,910...1,399,949
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aicda
activation induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23589568
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
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Bcl2l1
BCL2 like 1
ISO
RGD
PMID:21998213
RGD:11353857
NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
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Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
DNA:hypermethylation:promoter:
RGD
PMID:10602427
RGD:11252194
NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440
G
Clptm1l
CLPTM1 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chrNW_004624751:652,857...669,400
Ensembl chrNW_004624751:652,767...669,587
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Eng
endoglin
disease_progression
ISO
RGD
PMID:25030442
RGD:11041170
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
G
Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164
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Fcgr2a
Fc fragment of IgG receptor IIa
treatment no_association
ISO
DNA:polymorphism:exon:p.H131A (human)
RGD
PMID:15217834 PMID:20705761
RGD:11344968 RGD:11344969
NCBI chrNW_004624826:23,930...34,735
G
Fcgr2b
Fc fragment of IgG receptor IIb
treatment
ISO
RGD
PMID:20705761
RGD:11344969
NCBI chrNW_004624826:97,605...112,101
G
Fcgr3a
Fc fragment of IgG receptor IIIa
no_association
ISO
DNA:polymorphism:exon:p.F158V (rs396991) (human)
RGD
PMID:15217834
RGD:11344968
NCBI chrNW_004624826:51,387...59,117
G
Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:8569275
RGD:11059504
NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535
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Ipcef1
interaction protein for cytohesin exchange factors 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chrNW_004624785:4,031,811...4,114,650
Ensembl chrNW_004624785:4,017,720...4,111,043
G
Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17463288
NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077
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Lyl1
LYL1 basic helix-loop-helix family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3162254
NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100
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Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770046
NCBI chrNW_004624730:47,104,929...47,693,885
Ensembl chrNW_004624730:47,104,319...47,284,839
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Pot1
protection of telomeres 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23502782 PMID:24292274
NCBI chrNW_004624783:11,138,222...11,223,329
Ensembl chrNW_004624783:11,138,303...11,223,044
G
Runx1
RUNX family transcription factor 1
ISO
DNA:translocation: :
RGD
PMID:9539781
RGD:10450724
NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876
G
Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
MouseDO
NCBI chrNW_004624859:5,586,489...5,601,225
Ensembl chrNW_004624859:5,586,977...5,601,460
G
Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24292274
NCBI chrNW_004624751:624,569...647,198
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Atm
ATM serine/threonine kinase
ISO
DNA:deletion:exon: DNA:missense mutation:cds:
RGD
PMID:27895165 PMID:28007901
RGD:12879393 RGD:12879399
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
G
Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17941976
NCBI chrNW_004624734:4,560,362...4,649,219
Ensembl chrNW_004624734:4,560,699...4,647,858
G
Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28736328
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9488045
NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440
G
Chd4
chromodomain helicase DNA binding protein 4
ISO
DNA:missense mutation:CDS p.D140E (rs7479004) (human)
RGD
PMID:25407497
RGD:153323305
NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985
G
Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714
G
Ercc6
ERCC excision repair 6, chromatin remodeling factor
susceptibility
ISO
RGD
PMID:11238917
RGD:11567233
NCBI chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:23023262 PMID:24563539 PMID:26619011
NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196
G
Hmga1
high mobility group AT-hook 1
ISO
MouseDO
NCBI chrNW_004624754:22,888,052...22,900,685
Ensembl chrNW_004624754:22,892,226...22,898,807
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chrNW_004624765:7,806,560...7,825,520
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11980663
NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841
G
Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
G
Mad1l1
mitotic arrest deficient 1 like 1
ISO
RGD
PMID:11423979
RGD:1599865
NCBI chrNW_004624740:27,174,450...27,523,366
Ensembl chrNW_004624740:27,174,354...27,523,492
G
Malt1
MALT1 paracaspase
ISO
RGD
PMID:10523859
RGD:1599913
NCBI chrNW_004624792:4,148,258...4,223,431
Ensembl chrNW_004624792:4,148,453...4,217,548
G
Mlh1
mutL homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15700306
NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535
G
Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
G
Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16799656
NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
G
Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18798262
NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9205081
NCBI chrNW_004624772:10,358,554...10,369,371
G
Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
PMID:25741868
NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17441966
NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196
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_004624784:12,583,430...12,619,816
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22800774
NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
G
Ppp1r9b
protein phosphatase 1 regulatory subunit 9B
susceptibility
ISO
RGD
PMID:21670604
RGD:10043812
NCBI chrNW_004624795:6,124,273...6,137,776
Ensembl chrNW_004624795:6,124,159...6,137,955
G
Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:17609424
RGD:6483350
NCBI chrNW_004624754:23,811,008...23,815,432
Ensembl chrNW_004624754:23,807,272...23,815,417
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287727
NCBI chrNW_004624791:13,975,235...14,056,900
G
Ptger4
prostaglandin E receptor 4
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19075289
NCBI chrNW_004624759:14,243,887...14,259,090
Ensembl chrNW_004624759:14,244,899...14,258,445
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_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
G
Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chrNW_004624752:10,589,017...10,620,652
Ensembl chrNW_004624752:10,589,017...10,601,661
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
DNA:point mutation:codon 494:Glu-Asp
RGD
PMID:9047386
RGD:2298891
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
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Rpl11
ribosomal protein L11
susceptibility
ISO
RGD
PMID:26489471
RGD:11535971
NCBI chrNW_004624764:8,258,656...8,262,842
Ensembl chrNW_004624764:8,258,709...8,266,016
G
Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Lymphoma
ClinVar
NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815
G
Sox4
SRY-box transcription factor 4
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chrNW_004624756:5,128,848...5,156,174
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:9569050 PMID:9704930 PMID:10411893 PMID:10797439 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15722483 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17606709 PMID:18511570 PMID:19367569 PMID:19556618 PMID:20113312 PMID:20128691 PMID:20407015 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24641375 PMID:24651012 PMID:24810334 PMID:25157968 PMID:25612911 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28152038 PMID: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_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Twf1
twinfilin actin binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19783987
NCBI chrNW_004624816:8,765,937...8,780,301
Ensembl chrNW_004624816:8,765,922...8,778,396
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aicda
activation induced cytidine deaminase
disease_progression
ISO
RGD
PMID:18090274
RGD:32716407
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:9817281
NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12176798
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
G
Sdc1
syndecan 1
ISO
protein:altered expression:tumor (human)
RGD
PMID:11157493
RGD:9743929
NCBI chrNW_004624738:2,920,154...2,938,035
G
Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:26325374
RGD:11062098
NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11594583
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11594583
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528
G
Fcgr3a
Fc fragment of IgG receptor IIIa
disease_progression treatment
ISO
DNA:polymorphism: : DNA:SNP:exon:p.F158V (rs396991) (human)
RGD
PMID:15659493 PMID:21564078
RGD:11040774 RGD:11352262
NCBI chrNW_004624826:51,387...59,117
G
Gpx3
glutathione peroxidase 3
ISO
protein:increased expression:bone marrow
RGD
PMID:32763516
RGD:401827827
NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993
G
Il10
interleukin 10
ISO
DNA:SNPs: :multiple
RGD
PMID:19573080
RGD:11049165
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) DNA:SNPs: :multiple
RGD
PMID:19573080
RGD:11049165
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Irf4
interferon regulatory factor 4
ISO
RGD
PMID:23355206
RGD:11530052
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
G
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:26619011 PMID:28492532 More...
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
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_004624804:11,514,728...11,521,625
G
Ccl22
C-C motif chemokine ligand 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35534561
NCBI chrNW_004624746:28,694,879...28,700,711
Ensembl chrNW_004624746:28,694,735...28,700,827
G
Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:deletions
RGD
PMID:7539157 PMID:15148335
RGD:11049166 RGD:1600310
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Flt3
fms related receptor tyrosine kinase 3
ISO
RGD
PMID:15718420
RGD:11049481
NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il17a
interleukin 17A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22617429
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
G
Itk
IL2 inducible T cell kinase
ISO
ClinVar Annotator: match by term: Lymphoproliferative disorder
ClinVar
NCBI chrNW_004624733:32,125,005...32,198,901
Ensembl chrNW_004624733:32,127,388...32,198,869
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Duncan disease
ClinVar
PMID:25741868
NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577
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: 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_004624797:3,120,123...3,142,564
Ensembl chrNW_004624797:3,120,123...3,142,564
G
Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Duncan disease
ClinVar
PMID:25741868
NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424
G
Slc11a1
solute carrier family 11 member 1
ISO
DNA:deletion:3' utr:*55_*58delTGTG (human)
RGD
PMID:16734634
RGD:5684949
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22859607
RGD:6892715
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:nonsense mutation
RGD
PMID:10560675
RGD:1601413
NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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_004624733:31,996,717...32,115,571
Ensembl chrNW_004624733:31,996,423...32,115,577
G
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_004624733:32,034,485...32,040,483
Ensembl chrNW_004624733:32,035,938...32,039,562
G
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_004624733:32,218,203...32,249,115
Ensembl chrNW_004624733:32,218,061...32,221,254
G
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_004624733:32,284,793...32,310,980
G
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_004624733:32,521,318...32,527,499
G
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_004624733:32,125,005...32,198,901
Ensembl chrNW_004624733:32,127,388...32,198,869
G
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_004624733:32,256,067...32,260,501
Ensembl chrNW_004624733:32,256,116...32,259,792
G
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_004624733:31,945,996...31,960,187
Ensembl chrNW_004624733:31,948,414...31,959,894
G
Sgcd
sarcoglycan delta
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1
ClinVar
PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
NCBI chrNW_004624733:32,654,754...33,626,227
Ensembl chrNW_004624733:32,663,025...33,080,608
G
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_004624733:32,381,189...32,482,874
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_004624860:3,338,478...3,353,373
Ensembl chrNW_004624860:3,338,690...3,352,396
G
Acsm4
acyl-CoA synthetase medium chain family member 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624782:6,862,210...6,885,556
Ensembl chrNW_004624782:6,862,648...6,885,450
G
Aicda
activation induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,684,474...1,701,307
Ensembl chrNW_004624860:1,684,433...1,701,736
G
Ano2
anoctamin 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:2,531,196...2,835,248
Ensembl chrNW_004624860:2,531,904...2,854,862
G
Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:4,938,001...4,957,640
Ensembl chrNW_004624860:4,938,001...4,957,236
G
Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400
G
C1r
complement C1r
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,675,926...3,684,598
Ensembl chrNW_004624860:3,676,252...3,684,406
G
C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,686,866...3,693,293
Ensembl chrNW_004624860:3,687,500...3,692,872
G
C1s
complement C1s
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,658,272...3,667,717
Ensembl chrNW_004624860:3,659,341...3,671,142
G
C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:5,196,621...5,204,686
Ensembl chrNW_004624860:5,197,619...5,199,043
G
Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
G
Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
G
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_004624860:3,199,493...3,203,683
G
Cd4
CD4 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846
G
Cd9
CD9 molecule
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,027,126...3,055,974
Ensembl chrNW_004624860:3,027,029...3,056,798
G
Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,516,244...3,519,107
Ensembl chrNW_004624860:3,515,411...3,518,828
G
Chd4
chromodomain helicase DNA binding protein 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985
G
Clec4e
C-type lectin domain family 4 member E
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:4,108,782...4,113,693
Ensembl chrNW_004624860:4,108,640...4,113,839
G
Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,710,121...3,737,617
Ensembl chrNW_004624860:3,709,139...3,738,221
G
Cops7a
COP9 signalosome subunit 7A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,422,033...3,427,610
Ensembl chrNW_004624860:3,421,910...3,428,823
G
CUNH12orf57
chromosome unknown C12orf57 homolog
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059
G
Dppa3
developmental pluripotency associated 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:4,974,941...4,978,295
G
Dyrk4
dual specificity tyrosine phosphorylation regulated kinase 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,674,136...1,683,350
G
Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,605,114...3,611,108
Ensembl chrNW_004624860:3,605,126...3,611,108
G
Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,553,936...3,561,343
Ensembl chrNW_004624860:3,553,947...3,564,294
G
Ferry3
FERRY endosomal RAB5 effector complex subunit 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,592,889...1,627,298
Ensembl chrNW_004624860:1,593,318...1,625,422
G
Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,478,712...1,486,808
Ensembl chrNW_004624860:1,479,303...1,486,323
G
Fgf6
fibroblast growth factor 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,539,964...1,551,363
Ensembl chrNW_004624860:1,539,989...1,551,372
G
Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:5,176,301...5,195,715
Ensembl chrNW_004624860:5,176,257...5,195,682
G
Galnt8
polypeptide N-acetylgalactosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,757,201...1,806,854
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735
G
Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:4,968,624...4,970,362
G
Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,509,185...3,515,025
Ensembl chrNW_004624860:3,509,397...3,515,352
G
Gpr162
G protein-coupled receptor 162
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,492,761...3,497,896
Ensembl chrNW_004624860:3,493,075...3,498,374
G
Iffo1
intermediate filament family orphan 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,262,205...3,273,859
Ensembl chrNW_004624860:3,262,205...3,273,867
G
Ing4
inhibitor of growth family member 4
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,353,443...3,362,541
Ensembl chrNW_004624860:3,353,489...3,362,430
G
Kcna1
potassium voltage-gated channel subfamily A member 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,915,108...1,923,071
Ensembl chrNW_004624860:1,915,344...1,923,062
G
Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:2,042,325...2,045,953
Ensembl chrNW_004624860:2,039,771...2,045,867
G
Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,835,679...1,867,606
Ensembl chrNW_004624860:1,835,685...1,867,104
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Lag3
lymphocyte activating 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,454,587...3,461,649
Ensembl chrNW_004624860:3,456,347...3,461,592
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Lpar5
lysophosphatidic acid receptor 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,327,847...3,337,851
Ensembl chrNW_004624860:3,327,936...3,328,928
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Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,611,300...3,642,682
Ensembl chrNW_004624860:3,611,300...3,642,686
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Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,547,199...3,553,763
Ensembl chrNW_004624860:3,547,179...3,553,849
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Ltbr
lymphotoxin beta receptor
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,152,041...3,158,690
Ensembl chrNW_004624860:3,152,517...3,162,848
G
Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:4,877,811...4,891,149
Ensembl chrNW_004624860:4,881,981...4,888,527
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Mlf2
myeloid leukemia factor 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,437,286...3,441,332
Ensembl chrNW_004624860:3,437,136...3,441,455
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Mrpl51
mitochondrial ribosomal protein L51
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,228,155...3,229,037
Ensembl chrNW_004624860:3,228,155...3,229,036
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Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:5,026,203...5,037,219
G
Ncapd2
non-SMC condensin I complex subunit D2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,229,091...3,256,631
Ensembl chrNW_004624860:3,230,577...3,256,407
G
Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,703,972...1,729,185
Ensembl chrNW_004624860:1,703,244...1,728,779
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Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:5,224,170...5,237,235
Ensembl chrNW_004624860:5,223,610...5,237,451
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Nop2
NOP2 nucleolar protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,273,944...3,284,150
G
Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:2,416,448...2,479,216
Ensembl chrNW_004624860:2,416,503...2,479,225
G
P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,498,493...3,508,999
Ensembl chrNW_004624860:3,498,547...3,508,682
G
Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,771,949...3,790,982
Ensembl chrNW_004624860:3,771,963...3,790,985
G
Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,599,435...3,605,016
Ensembl chrNW_004624860:3,599,687...3,604,872
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Pianp
PILR alpha associated neural protein
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,396,105...3,417,986
Ensembl chrNW_004624860:3,396,237...3,400,909
G
Plekhg6
pleckstrin homology and RhoGEF domain containing G6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,097,697...3,111,159
G
Ptms
parathymosin
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,450,504...3,454,494
Ensembl chrNW_004624860:3,450,661...3,454,018
G
Ptpn6
protein tyrosine phosphatase non-receptor type 6
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090
G
Rad51ap1
RAD51 associated protein 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,627,606...1,643,569
Ensembl chrNW_004624860:1,627,765...1,643,667
G
Rbp5
retinol binding protein 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,705,210...3,709,179
Ensembl chrNW_004624860:3,705,210...3,709,055
G
Rimklb
ribosomal modification protein rimK like family member B
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:4,811,449...4,861,470
Ensembl chrNW_004624860:4,811,449...4,844,431
G
Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,123,676...3,152,217
Ensembl chrNW_004624860:3,126,379...3,145,043
G
Slc2a3
solute carrier family 2 member 3
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:5,069,246...5,153,435
G
Tapbpl
TAP binding protein like
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,203,683...3,211,901
Ensembl chrNW_004624860:3,205,093...3,211,584
G
Tigar
TP53 induced glycolysis regulatory phosphatase
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:1,416,419...1,455,953
Ensembl chrNW_004624860:1,417,131...1,457,717
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
G
Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,533,226...3,536,786
Ensembl chrNW_004624860:3,533,320...3,539,755
G
Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,519,106...3,532,690
Ensembl chrNW_004624860:3,519,113...3,532,687
G
Vamp1
vesicle associated membrane protein 1
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,212,549...3,219,354
Ensembl chrNW_004624860:3,213,474...3,219,359
G
Vwf
von Willebrand factor
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:2,843,268...2,973,888
Ensembl chrNW_004624860:2,858,088...2,973,052
G
Znf384
zinc finger protein 384
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 2
ClinVar
PMID:28492532
NCBI chrNW_004624860:3,365,103...3,389,907
Ensembl chrNW_004624860:3,365,339...3,389,346
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd70
CD70 molecule
ISO
ClinVar Annotator: match by term: CD70-related condition | ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 3
OMIM ClinVar
PMID:25741868 PMID:28011863 PMID:28011864
NCBI chrNW_004624828:3,720,808...3,724,337
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_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Nlrc4
NLR family CARD domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25217959
NCBI chrNW_004624738:13,836,678...13,863,881
Ensembl chrNW_004624738:13,836,717...13,873,783
G
Prf1
perforin 1
ISO
associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human)
RGD
PMID:20019066
RGD:6482811
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Rcbtb2
RCC1 and BTB domain containing protein 2
ISO
MouseDO
NCBI chrNW_004624748:6,305,821...6,355,511
Ensembl chrNW_004624748:6,311,636...6,355,591
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_004624760:7,684,098...7,693,051
Ensembl chrNW_004624760:7,684,109...7,693,405
G
Arhgap29
Rho GTPase activating protein 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488656
NCBI chrNW_004624742:3,410,123...3,495,300
G
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_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
G
Btk
Bruton tyrosine kinase
treatment
ISO
RGD
PMID:23045577
RGD:11040699
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Ccdc50
coiled-coil domain containing 50
ISO
RGD
PMID:19641524
RGD:9685139
NCBI chrNW_004624730:65,877,175...65,949,099
Ensembl chrNW_004624730:65,882,486...65,949,464
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_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
G
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_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
G
CUNH11orf65
chromosome unknown C11orf65 homolog
ISO
ClinVar Annotator: match by term: Mantle cell lymphoma
ClinVar
PMID:10706620 PMID:28492532
NCBI chrNW_004624784:3,083,664...3,144,017
Ensembl chrNW_004624784:3,084,385...3,145,517
G
Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chrNW_004624780:5,543,117...5,561,285
Ensembl chrNW_004624780:5,543,117...5,561,261
G
Gsk3b
glycogen synthase kinase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chrNW_004624731:28,178,647...28,368,784
Ensembl chrNW_004624731:28,178,628...28,366,420
G
Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17148679
NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23676220
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
G
Prame
PRAME nuclear receptor transcriptional regulator
ISO
protein:increased expression:mononuclear cell (human)
RGD
PMID:16620968
RGD:11535021
NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222
G
Wnt10a
Wnt family member 10A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18787224
NCBI chrNW_004624823:6,126,238...6,140,764
Ensembl chrNW_004624823:6,128,256...6,140,235
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_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759
G
Gfi1
growth factor independent 1 transcriptional repressor
disease_progression
ISO
RGD
PMID:15231650
RGD:1581305
NCBI chrNW_004624742:5,260,651...5,271,908
Ensembl chrNW_004624742:5,261,537...5,270,695
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human)
RGD
PMID:16234023
RGD:5147794
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7
OMIM ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:28991257 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34212438 More...
NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Kif11
kinesin family member 11
ISO
ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
OMIM ClinVar
PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 PMID:22653704 PMID:24281367 PMID:25115524 PMID:25124931 PMID:25741868 PMID:25934493 PMID:26472404 PMID:26566857 PMID:27212378 PMID:28492532 PMID:30452590 PMID:30792901 PMID:31077665 PMID:31130284 PMID:32214227 PMID:33137195 PMID:33619735 PMID:34128965 More...
NCBI chrNW_004624737:3,835,788...3,874,360
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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
MouseDO
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
G
Nefh
neurofilament heavy chain
ISO
associated with Peripheral Nervous System Diseases
RGD
PMID:12536221
RGD:9693726
NCBI chrNW_004624747:5,806,576...5,816,158
Ensembl chrNW_004624747:5,806,645...5,815,554
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_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459
G
Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535
G
Kmt2b
lysine methyltransferase 2B
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004624794:10,023,229...10,046,128
Ensembl chrNW_004624794:10,023,492...10,045,820
G
Map2k2
mitogen-activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445
G
Mpeg1
macrophage expressed 1
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004624864:1,470,862...1,474,957
Ensembl chrNW_004624864:1,470,887...1,473,046
G
Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: TAFRO syndrome
ClinVar
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ace
angiotensin I converting enzyme
ISO
protein:increased activity:serum
RGD
PMID:22345095
RGD:11038914
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
G
Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624
G
Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chrNW_004624907:1,752,322...1,755,308
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Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624884:3,360,461...3,434,622
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624790:143,818...162,065
Ensembl chrNW_004624790:147,149...161,344
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B2m
beta-2-microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:26619011
NCBI chrNW_004624804:11,514,728...11,521,625
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624765:1,354,511...1,419,364
Ensembl chrNW_004624765:1,351,273...1,422,587
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Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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Bcl2l1
BCL2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
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Bcl2l10
BCL2 like 10
ISO
protein:increased expression:bone marrow :
RGD
PMID:27455953
RGD:14392808
NCBI chrNW_004624731:8,399,936...8,403,904
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Bcorl1
BCL6 corepressor like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624797:9,211,625...9,283,435
Ensembl chrNW_004624797:9,240,209...9,282,020
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Bnip3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172295
NCBI chrNW_004624737:14,848,355...14,863,731
Ensembl chrNW_004624737:14,848,350...14,862,965
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:33040082 PMID:34476331 More...
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
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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_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chrNW_004624750:14,526,750...14,529,336
Ensembl chrNW_004624750:14,526,384...14,533,049
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Cbl
Cbl proto-oncogene
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
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Cbx7
chromobox 7
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD RGD
PMID:23955597
RGD:11352716
NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934
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Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human)
RGD
PMID:25061178 PMID:28035364
RGD:329845528 RGD:329845546
NCBI chrNW_004624742:11,882,815...11,885,686
Ensembl chrNW_004624742:11,882,907...11,885,667
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Ccnd1
cyclin D1
susceptibility
ISO
ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
OMIM ClinVar
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 More...
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
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Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chrNW_004624754:17,148,108...17,194,626
Ensembl chrNW_004624754:17,148,076...17,194,000
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Cd40
CD40 molecule
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
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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_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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Cd46
CD46 molecule
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chrNW_004624807:4,040,639...4,074,631
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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_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
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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_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275
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Cdkn2c
cyclin dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624859:2,092,622...2,097,628
Ensembl chrNW_004624859:2,091,734...2,097,659
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362
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Crbn
cereblon
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624773:13,383,697...13,406,892
Ensembl chrNW_004624773:13,384,383...13,407,191
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
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Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624757:5,895,912...5,953,485
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624751:27,760,665...27,786,403
Ensembl chrNW_004624751:27,760,776...27,785,613
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chrNW_004624770:1,315,021...1,363,472
Ensembl chrNW_004624770:1,313,916...1,364,153
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Eif1ax
eukaryotic translation initiation factor 1A X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624829:4,954,390...4,972,934
Ensembl chrNW_004624829:4,957,809...4,973,220
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:exon:rs2234922 (human) DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD RGD
PMID:16949155 PMID:19736056 PMID:24521996
RGD:11252116 RGD:11252121 RGD:11252122
NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714
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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_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
sexual_dimorphism disease_progression
ISO
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human) DNA:polymorphism: :p.K751Q (rs13181) (human)
RGD
PMID:17131345 PMID:22183071
RGD:11252199 RGD:401827277
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
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Erf
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629
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Faslg
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624769:17,801,796...17,924,685
Ensembl chrNW_004624769:17,801,894...17,925,191
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Fcgr2a
Fc fragment of IgG receptor IIa
susceptibility disease_progression
ISO
DNA:polymorphism: :rs1801274(human)
RGD
PMID:17315188 PMID:25850245
RGD:11040778 RGD:11040938
NCBI chrNW_004624826:23,930...34,735
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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:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 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:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chrNW_004624858:5,828,334...5,836,382
Ensembl chrNW_004624858:5,827,316...5,838,170
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Flt3
fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066
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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_004624832:4,733,820...4,739,214
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Fto
FTO alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993
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H1-4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624756:771,688...772,950
Ensembl chrNW_004624756:772,241...772,903
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487
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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_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760
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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_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chrNW_004624740:14,940,161...14,941,561
Ensembl chrNW_004624740:14,939,445...14,941,819
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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_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chrNW_004624765:7,806,560...7,825,520
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397
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Igf2r
insulin like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum
RGD
PMID:11022130 PMID:11307152
RGD:11041888 RGD:11049458
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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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_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
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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_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:snp: :11100C>T (human) DNA:repeats:intron:
RGD
PMID:10848780 PMID:17926179
RGD:11051973 RGD:11522764
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chrNW_004624782:11,981,781...12,008,362
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859
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Irf4
interferon regulatory factor 4
treatment disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:translocation
CTD RGD
PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574
RGD:11526161 RGD:11530019 RGD:11530055
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624909:421,033...455,201
Ensembl chrNW_004624909:420,077...455,309
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053
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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_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
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_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624785:8,356,238...8,405,877
Ensembl chrNW_004624785:8,369,922...8,408,919
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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_004624793:3,699,394...3,706,591
Ensembl chrNW_004624793:3,699,506...3,706,073
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LOC101698338
E3 SUMO-protein ligase RanBP2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chrNW_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958
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LOC101707509
cytochrome P450 1A1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chrNW_004627988:7...1,323
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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_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
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Maf
MAF bZIP transcription factor
ISO
OMIM:254500
MouseDO
NCBI chrNW_004624746:7,653,690...7,672,404
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033
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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_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004624867:5,508,847...5,533,395
Ensembl chrNW_004624867:5,508,886...5,533,395
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004624825:7,513,481...7,527,716
Ensembl chrNW_004624825:7,513,481...7,527,695
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Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624730:3,802,452...3,818,593
Ensembl chrNW_004624730:3,800,749...3,822,389
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chrNW_004624885:2,339,281...2,343,351
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
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Ncor2
nuclear receptor corepressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624747:23,777,645...23,887,804
Ensembl chrNW_004624747:23,777,325...23,865,804
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576
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Nfkbia
NFKB inhibitor alpha
ISO
DNA:polymorphism
RGD
PMID:12377412 PMID:16540234
RGD:2298895 RGD:2298898
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
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Nono
non-POU domain containing octamer binding
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985
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Notch2
notch receptor 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chrNW_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chrNW_004624902:1,741,921...1,754,932
Ensembl chrNW_004624902:1,736,704...1,755,504
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.P187S (609C>T) (human)
RGD CTD
PMID:16949155 PMID:18061666 PMID:18156703
RGD:10755419 RGD:10769348
NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479
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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_004624772:10,358,554...10,369,371
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Nuak1
NUAK family kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chrNW_004624750:3,141,442...3,197,821
Ensembl chrNW_004624750:3,141,441...3,197,514
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P2ry8
P2Y receptor family member 8
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624834:686,801...708,251
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Parp1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624908:1,513,916...1,523,723
Ensembl chrNW_004624908:1,513,969...1,523,295
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Pml
PML nuclear body scaffold
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chrNW_004624781:464,858...498,146
Ensembl chrNW_004624781:464,658...497,775
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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_004624907:2,286,040...2,288,533
Ensembl chrNW_004624907:2,286,050...2,288,242
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Pon1
paraoxonase 1
treatment susceptibility severity
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_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
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Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
CTD Direct Evidence: marker/mechanism associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD RGD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
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Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chrNW_004624754:24,783,528...24,785,397
Ensembl chrNW_004624754:24,783,761...24,785,331
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Pthlh
parathyroid hormone like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chrNW_004624778:8,007,358...8,019,538
Ensembl chrNW_004624778:8,008,056...8,019,612
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
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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_004624770:9,026,592...9,100,818
Ensembl chrNW_004624770:9,023,392...9,119,183
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Rbp1
retinol binding protein 1
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chrNW_004624730:16,091,863...16,119,591
Ensembl chrNW_004624730:16,091,863...16,119,591
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637
G
Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690
G
Runx1
RUNX family transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876
G
Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624760:2,379,809...2,455,749
Ensembl chrNW_004624760:2,380,708...2,456,928
G
Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742
G
Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624942:508,035...641,349
Ensembl chrNW_004624942:507,605...641,585
G
Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624747:20,729,142...20,759,631
Ensembl chrNW_004624747:20,730,751...20,759,625
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15908783
RGD:1581238
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
G
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_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804
G
Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742
G
Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428
G
Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chrNW_004624751:624,569...647,198
G
Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084
G
Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624749:29,371,674...29,494,785
Ensembl chrNW_004624749:29,371,682...29,493,031
G
Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550
G
Tgfb1
transforming growth factor beta 1
disease_progression
ISO
DNA:hypermethylation: : protein:decreased expression:serum:
RGD
PMID:22560388 PMID:23699600
RGD:11073605 RGD:11073614
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
G
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_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593
G
Tnfrsf17
TNF receptor superfamily member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chrNW_004624782:6,337,914...6,375,242
Ensembl chrNW_004624782:6,338,087...6,341,090
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
G
Tp53
tumor protein p53
disease_progression treatment
ISO
DNA:polymorphism:cds:p.R72P(human) ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis protein:increased expression:nucleus: DNA:deletion: :
RGD ClinVar
PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:9020384 PMID:9047394 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9482117 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11904319 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12745272 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22261445 PMID:22265402 PMID:22484423 PMID:22666503 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24611901 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31212162 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 More...
RGD:11073716 RGD:11073728 RGD:11075073
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624773:13,363,449...13,382,789
Ensembl chrNW_004624773:13,362,983...13,395,086
G
Tyms
thymidylate synthetase
treatment no_association
ISO
DNA:polymorphism: : DNA:repeats:5'UTR:
RGD
PMID:17512053 PMID:17655928
RGD:11075094 RGD:11075095
NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600
G
Ulk4
unc-51 like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chrNW_004624730:77,495,705...77,876,547
Ensembl chrNW_004624730:77,495,747...77,875,622
G
Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)
RGD
PMID:24687381
RGD:11079182
NCBI chrNW_004624754:15,929,414...15,943,637
G
Xdh
xanthine dehydrogenase
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352
G
Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chrNW_004624754:16,083,356...16,124,682
Ensembl chrNW_004624754:16,083,407...16,123,407
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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_004624734:1,216,641...1,223,860
Ensembl chrNW_004624734:1,217,549...1,223,280
G
Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chrNW_004624743:3,299,329...3,549,182
Ensembl chrNW_004624743:3,317,351...3,552,161
G
Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chrNW_004624878:621,214...776,363
G
Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004624741:28,918,466...28,933,593
Ensembl chrNW_004624741:28,917,942...28,933,599
G
Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chrNW_004624734:3,846,753...3,875,294
Ensembl chrNW_004624734:3,846,765...3,875,294
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_004624758:22,431,331...22,444,185
Ensembl chrNW_004624758:22,426,918...22,444,357
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis, dermis (human)
RGD
PMID:24127318
RGD:8695934
NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*03 (human)
RGD
PMID:15761416
RGD:7483574
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
Sod2
superoxide dismutase 2
ISO
protein:increased expression:skin:
RGD
PMID:20833513
RGD:8547521
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
G
Cflar
CASP8 and FADD like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989
G
Fas
Fas cell surface death receptor
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chrNW_004624733:40,957,895...40,963,469
Ensembl chrNW_004624733:40,957,999...40,962,993
G
Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
G
Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chrNW_004624780:16,205,056...16,227,382
Ensembl chrNW_004624780:16,204,838...16,227,390
G
Stat3
signal transducer and activator of transcription 3
ISO
protein:increased expression:nasal cavity (human)
RGD
PMID:17225522
RGD:153298933
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624786:10,769,797...10,775,142
Ensembl chrNW_004624786:10,765,610...10,775,112
G
Axl
AXL receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624907:76,236...106,765
Ensembl chrNW_004624907:77,806...106,228
G
Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
PMID:28492532
NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
G
Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624907:458,447...486,482
Ensembl chrNW_004624907:454,948...486,565
G
Cul3
cullin 3
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624823:767,347...854,065
Ensembl chrNW_004624823:766,780...852,727
G
Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585
G
Igf1r
insulin like growth factor 1 receptor
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809
G
Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
G
Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624730:15,226,786...15,399,097
Ensembl chrNW_004624730:15,226,379...15,355,857
G
Ptprs
protein tyrosine phosphatase receptor type S
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624828:4,688,555...4,764,805
Ensembl chrNW_004624828:4,716,249...4,764,614
G
Runx1t1
RUNX1 partner transcriptional co-repressor 1
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624744:783...63,720
G
Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555
G
Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: NK-cell enteropathy
ClinVar
NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
protein:increased expression:cerebellum:
RGD
PMID:20883783
RGD:8693571
NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491
G
Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chrNW_004624817:7,913,541...7,937,945
Ensembl chrNW_004624817:7,909,468...7,936,487
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33099109 PMID:35140266 More...
NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843
G
Npc2
NPC intracellular cholesterol transporter 2
ISO
DNA:mutation:multiple
RGD MouseDO
PMID:11567215
RGD:1601483
NCBI chrNW_004624734:27,166,867...27,177,229
Ensembl chrNW_004624734:27,166,880...27,177,229
G
Smpd1
sphingomyelin phosphodiesterase 1
susceptibility
ISO
Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency
RGD ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:8664904 PMID:12369017 PMID:12556236 PMID:12712061 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15877209 PMID:16010684 PMID:16264060 PMID:16642440 PMID:17011332 PMID:17876723 PMID:18625664 PMID:18815062 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21454466 PMID:21502868 PMID:22367733 PMID:23252888 PMID:23356216 PMID:23430949 PMID:24033266 PMID:24767253 PMID:25741868 PMID:25834946 PMID:25933391 PMID:26049896 PMID:26499107 PMID:26790753 PMID:26851525 PMID:26981555 PMID:27238910 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:28255779 PMID:28259515 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28703315 PMID:29140481 PMID:29556840 PMID:29995201 PMID:30788890 PMID:30795770 PMID:31122880 PMID:31941852 PMID:31965297 PMID:32292456 PMID:32714837 PMID:33675270 PMID:34273913 PMID:34660203 PMID:34867278 PMID:35747619 More...
RGD:1601336
NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chrNW_004624817:7,913,541...7,937,945
Ensembl chrNW_004624817:7,909,468...7,936,487
G
Itpr1
inositol 1,4,5-trisphosphate receptor type 1
disease_progression
ISO
protein:decreased expression:cerebellum (mouse)
RGD
PMID:16277603
RGD:6482797
NCBI chrNW_004624773:14,856,803...15,193,173
Ensembl chrNW_004624773:14,856,804...15,193,168
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:35140266 PMID:36007526 More...
NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843
G
Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
OMIM ClinVar
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15612058 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25301364 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32280632 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:34273913 PMID:34426522 PMID:34554397 PMID:34660203 PMID:34867278 PMID:35342016 PMID:35747619 PMID:35883096 PMID:36195244 More...
NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Apbb1
amyloid beta precursor protein binding family B member 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 PMID:17011332 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 More...
NCBI chrNW_004624817:7,913,541...7,937,945
Ensembl chrNW_004624817:7,909,468...7,936,487
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar
PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 PMID:12401890 PMID:12955717 PMID:14639697 PMID:16098014 PMID:16126423 PMID:18216017 PMID:19744920 PMID:20301473 PMID:20521171 PMID:21436030 PMID:22505584 PMID:23430855 PMID:24928400 PMID:25149939 PMID:25236789 PMID:25590979 PMID:25637190 PMID:25741868 PMID:25873482 PMID:26019327 PMID:26666848 PMID:27139891 PMID:27923633 PMID:28413817 PMID:28492532 PMID:28710748 PMID:28776642 PMID:28865947 PMID:29476731 PMID:29631617 PMID:30487145 PMID:30556376 PMID:30665703 PMID:31589614 PMID:31639011 PMID:31980526 PMID:32138288 PMID:33027564 PMID:33099109 PMID:35140266 PMID:36007526 More...
NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843
G
Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
OMIM ClinVar
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8225311 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:8693491 PMID:9042807 PMID:9266408 PMID:9536098 PMID:10464620 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12694237 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16199547 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17576681 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:21621718 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23420949 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23618813 PMID:23724191 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24643943 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26084044 PMID:26169295 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27243974 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:27884455 PMID:28255779 PMID:28259515 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29485843 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30153451 PMID:30788890 PMID:30795770 PMID:30912297 PMID:31122880 PMID:31139477 PMID:31941852 PMID:31965297 PMID:31980526 PMID:32005694 PMID:32036093 PMID:32071839 PMID:32292456 PMID:32375665 PMID:32714837 PMID:32778503 PMID:32860008 PMID:33083013 PMID:33100332 PMID:33675270 PMID:33763395 PMID:34273913 PMID:34426522 PMID:34554397 PMID:34660203 PMID:34867278 PMID:35747619 PMID:35883096 More...
NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Abhd3
abhydrolase domain containing 3, phospholipase
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chrNW_004624770:10,073,462...10,126,062
Ensembl chrNW_004624770:10,073,444...10,113,235
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:18591368
RGD:10047095
NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491
G
Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chrNW_004624734:26,612,509...26,638,491
Ensembl chrNW_004624734:26,619,100...26,638,714
G
Ankrd29
ankyrin repeat domain 29
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chrNW_004624770:8,527,081...8,585,678
Ensembl chrNW_004624770:8,527,140...8,583,154
G
Cables1
Cdk5 and Abl enzyme substrate 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chrNW_004624770:8,837,425...8,937,106
Ensembl chrNW_004624770:8,837,220...8,935,886
G
Esco1
establishment of sister chromatid cohesion N-acetyltransferase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chrNW_004624770:10,153,506...10,219,745
G
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
G
Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chrNW_004624770:10,223,131...10,471,309
Ensembl chrNW_004624770:10,225,669...10,345,173
G
Jak2
Janus kinase 2
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365
G
Lama3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chrNW_004624770:8,237,085...8,482,770
G
Lipa
lipase A, lysosomal acid type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20557099
NCBI chrNW_004624737:49,471...82,981
Ensembl chrNW_004624737:49,371...83,514
G
Mib1
MIB E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chrNW_004624770:9,936,202...10,051,018
Ensembl chrNW_004624770:9,941,706...10,051,024
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
OMIM ClinVar
PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 PMID:9211850 PMID:9245994 PMID:9536098 PMID:9634529 PMID:9744920 PMID:9927649 PMID:10419504 PMID:10480349 PMID:10521290 PMID:10521297 PMID:11182931 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11545687 PMID:11754101 PMID:12205649 PMID:12401890 PMID:12408188 PMID:12554680 PMID:12719428 PMID:12813037 PMID:12955717 PMID:12974729 PMID:14639697 PMID:14970192 PMID:15099022 PMID:15130691 PMID:15347664 PMID:15459971 PMID:15465421 PMID:15596783 PMID:15774455 PMID:15937921 PMID:16086131 PMID:16098014 PMID:16126423 PMID:16138904 PMID:16143556 PMID:16199547 PMID:16720792 PMID:16778374 PMID:16802107 PMID:17003072 PMID:17160617 PMID:17576681 PMID:17973331 PMID:17989072 PMID:18081003 PMID:18216017 PMID:19013089 PMID:19206179 PMID:19223215 PMID:19252935 PMID:19307542 PMID:19563754 PMID:19609713 PMID:19718781 PMID:19744920 PMID:19763152 PMID:19900398 PMID:20301473 PMID:20307669 PMID:20489167 PMID:20521171 PMID:20554533 PMID:20718790 PMID:20826119 PMID:20882348 PMID:20981092 PMID:21245028 PMID:21436030 PMID:21550990 PMID:22065762 PMID:22269206 PMID:22326530 PMID:22406018 PMID:22476655 PMID:22505584 PMID:22676771 PMID:22704015 PMID:22750297 PMID:22995991 PMID:23142039 PMID:23146215 PMID:23183285 PMID:23427322 PMID:23430855 PMID:23433426 PMID:23453666 PMID:23487299 PMID:23593294 PMID:23597521 PMID:23653225 PMID:23685560 PMID:23711246 PMID:23757202 PMID:23773996 PMID:23774949 PMID:23791518 PMID:23821321 PMID:24001525 PMID:24033266 PMID:24035292 PMID:24178705 PMID:24386122 PMID:24506780 PMID:24570279 PMID:24676439 PMID:24767253 PMID:24891511 PMID:24915861 PMID:24928400 PMID:25071864 PMID:25131710 PMID:25149939 PMID:25236789 PMID:25238906 PMID:25239094 PMID:25326635 PMID:25326637 PMID:25349751 PMID:25425405 PMID:25497598 PMID:25536905 PMID:25590979 PMID:25637190 PMID:25640679 PMID:25741868 PMID:25748406 PMID:25764212 PMID:25873482 PMID:25888393 PMID:25989649 PMID:26019327 PMID:26075876 PMID:26108224 PMID:26206375 PMID:26255038 PMID:26284228 PMID:26338816 PMID:26467025 PMID:26666848 PMID:26771826 PMID:26788393 PMID:26790753 PMID:26830282 PMID:26910362 PMID:26937389 PMID:26939636 PMID:26981555 PMID:26984608 PMID:27016452 PMID:27139891 PMID:27193329 PMID:27234403 PMID:27238017 PMID:27250337 PMID:27256227 PMID:27288778 PMID:27366019 PMID:27378690 PMID:27528516 PMID:27549128 PMID:27550898 PMID:27581084 PMID:27599728 PMID:27706244 PMID:27792009 PMID:27900365 PMID:27923633 PMID:27928380 PMID:27959697 PMID:28105569 PMID:28130309 PMID:28155026 PMID:28167839 PMID:28193631 PMID:28222799 PMID:28328115 PMID:28387450 PMID:28413817 PMID:28472934 PMID:28480683 PMID:28492532 PMID:28666962 PMID:28703315 PMID:28710748 PMID:28776642 PMID:28784760 PMID:28802248 PMID:28808920 PMID:28865947 PMID:28883878 PMID:29100954 PMID:29165669 PMID:29197565 PMID:29429782 PMID:29453517 PMID:29476731 PMID:29631617 PMID:29971198 PMID:30019023 PMID:30119649 PMID:30153451 PMID:30202070 PMID:30285904 PMID:30487145 PMID:30552426 PMID:30556376 PMID:30609409 PMID:30633340 PMID:30665703 PMID:30737051 PMID:30820861 PMID:30923329 PMID:30985853 PMID:31030438 PMID:31130284 PMID:31139477 PMID:31296176 PMID:31497485 PMID:31509197 PMID:31543266 PMID:31589614 PMID:31635081 PMID:31639011 PMID:31699992 PMID:31743419 PMID:31754021 PMID:31980526 PMID:32060698 PMID:32138288 PMID:32144825 PMID:32222928 PMID:32248828 PMID:32289814 PMID:32317543 PMID:32482919 PMID:32488064 PMID:32544384 PMID:32709131 PMID:32732226 PMID:32745579 PMID:32860008 PMID:32921771 PMID:32931663 PMID:33021976 PMID:33027564 PMID:33099109 PMID:33138774 PMID:33139814 PMID:33163944 PMID:33258288 PMID:33624863 PMID:33947371 PMID:33990640 PMID:34023347 PMID:34234304 PMID:34296265 PMID:34303826 PMID:34489640 PMID:34712575 PMID:34799641 PMID:35038048 PMID:35086560 PMID:35140266 PMID:35192242 PMID:35408815 PMID:35614200 PMID:35861376 PMID:35892469 PMID:35982159 PMID:36007526 PMID:36307859 PMID:36325261 PMID:36636588 PMID:37032242 PMID:37251532 PMID:37480097 PMID:38131230 More...
NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843
G
Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16757520 PMID:17470133 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26666848 PMID:26981555 PMID:27792009 PMID:28095804 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33673364 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chrNW_004624734:27,166,867...27,177,229
Ensembl chrNW_004624734:27,166,880...27,177,229
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Rbbp8
RB binding protein 8, endonuclease
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chrNW_004624770:9,026,592...9,100,818
Ensembl chrNW_004624770:9,023,392...9,119,183
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Riok3
RIO kinase 3
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chrNW_004624770:8,675,501...8,696,999
Ensembl chrNW_004624770:8,675,294...8,697,620
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Rmc1
regulator of MON1-CCZ1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:25741868 PMID:28492532
NCBI chrNW_004624770:8,641,752...8,662,248
Ensembl chrNW_004624770:8,641,791...8,662,285
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 PMID:27338287 PMID:28492532 More...
NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417
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Snrpd1
small nuclear ribonucleoprotein D1 polypeptide
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:28492532
NCBI chrNW_004624770:10,134,623...10,147,342
Ensembl chrNW_004624770:10,135,425...10,147,298
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:21176403
RGD:10403054
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Syndig1l
synapse differentiation inducing 1 like
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:25741868
NCBI chrNW_004624734:27,221,110...27,242,657
Ensembl chrNW_004624734:27,221,116...27,241,879
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Tmem241
transmembrane protein 241
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C1
ClinVar
PMID:9211850 PMID:20718790 PMID:28492532
NCBI chrNW_004624770:8,706,531...8,814,972
Ensembl chrNW_004624770:8,706,558...8,814,972
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Acyp1
acylphosphatase 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25558065 PMID:25741868 PMID:25764212 PMID:26981555 PMID:27792009 PMID:28492532 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chrNW_004624734:26,612,509...26,638,491
Ensembl chrNW_004624734:26,619,100...26,638,714
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar
PMID:25741868
NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843
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Npc2
NPC intracellular cholesterol transporter 2
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type C2
OMIM ClinVar
PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 PMID:12955717 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16167124 PMID:16199547 PMID:16757520 PMID:17470133 PMID:17576681 PMID:18081003 PMID:18772377 PMID:19252935 PMID:20301473 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24082139 PMID:24386122 PMID:24767253 PMID:24915861 PMID:25038260 PMID:25145893 PMID:25236789 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26206375 PMID:26338816 PMID:26666848 PMID:26981555 PMID:27271431 PMID:27792009 PMID:28095804 PMID:28105569 PMID:28492532 PMID:28808920 PMID:29431110 PMID:29928259 PMID:30060175 PMID:30548430 PMID:32138288 PMID:33673364 PMID:33848968 PMID:34420959 PMID:36140389 PMID:36199823 More...
NCBI chrNW_004624734:27,166,867...27,177,229
Ensembl chrNW_004624734:27,166,880...27,177,229
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Niemann-Pick disease, type D
OMIM ClinVar
PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 PMID:16126423 PMID:16778374 PMID:20301473 PMID:20718790 PMID:25741868 PMID:26666848 PMID:26984608 PMID:28222799 PMID:28492532 More...
NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Smpd1
sphingomyelin phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral
ClinVar
PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 PMID:15241805 PMID:15877209 PMID:17011332 PMID:17360762 PMID:23412609 PMID:23420949 PMID:23430949 PMID:25741868 PMID:26981555 PMID:28492532 PMID:28703315 More...
NCBI chrNW_004624817:7,909,777...7,913,419
Ensembl chrNW_004624817:7,909,468...7,913,417
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Anxa7
annexin A7
ISO
protein:decreased expression:lymph node
RGD
PMID:17708571
RGD:2292654
NCBI chrNW_004624754:6,992,436...7,022,419
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B2m
beta-2-microglobulin
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:22693999 PMID:26619011
NCBI chrNW_004624804:11,514,728...11,521,625
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Bcl10
BCL10 immune signaling adaptor
ISO
OMIM
NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759
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Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3287162 PMID:26239085
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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Bcl6
BCL6 transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25543051
NCBI chrNW_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689
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Bhmt
betaine--homocysteine S-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004624869:3,618,895...3,639,621
Ensembl chrNW_004624869:3,617,948...3,642,860
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:17603483 PMID:18186519 PMID:18794803 PMID:19010912 PMID:19206169 PMID:19238210 PMID:19537845 PMID:20350999 PMID:20619739 PMID:21129611 PMID:21483012 PMID:22310681 PMID:22649091 PMID:22773810 PMID:23352452 PMID:23833300 PMID:24033266 PMID:24303953 PMID:24446311 PMID:24920063 PMID:25157968 PMID:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29595366 More...
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
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Casp10
caspase 10
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
OMIM ClinVar
PMID:11973654 PMID:12010812
NCBI chrNW_004624889:31,132...63,774
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Cbs
cystathionine beta-synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004624745:27,676,430...27,687,573
Ensembl chrNW_004624745:27,673,748...27,688,462
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Ccnd1
cyclin D1
susceptibility
ISO
DNA:snp:exon:c.870G>A (human)
RGD
PMID:25169547
RGD:11353786
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:19636010
RGD:11522746
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
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Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:19633198
RGD:151665149
NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26506619
NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7680712 PMID:11486401 PMID:11732872
NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11911406
NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594
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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_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism
CTD RGD
PMID:11406608
RGD:1601063
NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:23023262 PMID:24563539 PMID:26619011
NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196
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Fcgr2a
Fc fragment of IgG receptor IIa
disease_progression
ISO
RGD
PMID:25850245
RGD:11040778
NCBI chrNW_004624826:23,930...34,735
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Fpgs
folylpolyglutamate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004624760:7,735,606...7,754,750
Ensembl chrNW_004624760:7,735,613...7,754,994
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Gpx1
glutathione peroxidase 1
treatment
ISO
RGD
PMID:25016003
RGD:11352765
NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:serum:
RGD
PMID:7686390
RGD:11520780
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Igf2r
insulin like growth factor 2 receptor
ISO
protein:increased expression:serum:
RGD
PMID:29940770
RGD:14985218
NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151
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Kmt2a
lysine methyltransferase 2A
ISO
DNA:rearrangements
RGD
PMID:8361504
RGD:1625285
NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077
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LOC101722366
cytochrome P450 2E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11406608
NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514
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Lrrc41
leucine rich repeat containing 41
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
NCBI chrNW_004624906:2,193,881...2,231,424
Ensembl chrNW_004624906:2,191,934...2,217,347
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Malt1
MALT1 paracaspase
ISO
RGD
PMID:12560219
RGD:1599912
NCBI chrNW_004624792:4,148,258...4,223,431
Ensembl chrNW_004624792:4,148,453...4,217,548
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Map2k1
mitogen-activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:23444215 PMID:25157968 PMID:26619011
NCBI chrNW_004624781:6,222,365...6,285,398
Ensembl chrNW_004624781:6,222,365...6,285,531
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17488658
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:15159311
RGD:11531140
NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657
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Mtss1
MTSS I-BAR domain containing 1
ISO
OMIM:605027
MouseDO
NCBI chrNW_004624735:30,512,474...30,659,727
Ensembl chrNW_004624735:30,512,464...30,659,718
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:25157968 PMID:26619011
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:36130886 More...
NCBI chrNW_004624772:10,358,554...10,369,371
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:12139735
RGD:11553822
NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
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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_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
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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_004624763:1,773,943...1,878,032
Ensembl chrNW_004624763:1,773,725...1,878,641
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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_004624906:2,164,711...2,194,262
Ensembl chrNW_004624906:2,165,780...2,193,764
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:26619011
NCBI chrNW_004624730:3,316,122...3,361,820
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S1pr2
sphingosine-1-phosphate receptor 2
ISO
OMIM:605027
MouseDO
NCBI chrNW_004624828:2,371,750...2,419,330
Ensembl chrNW_004624828:2,390,742...2,394,106
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Shmt1
serine hydroxymethyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17119116
NCBI chrNW_004624849:3,108,875...3,146,669
Ensembl chrNW_004624849:3,114,876...3,146,248
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550
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Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chrNW_004624884:1,606,197...1,663,752
Ensembl chrNW_004624884:1,606,199...1,663,749
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma
ClinVar
PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:2654466 PMID:7718482 PMID:7761089 PMID:8023157 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8633021 PMID:8718514 PMID:8829627 PMID:10629033 PMID:10864200 PMID:10922393 PMID:11370630 PMID:11429705 PMID:11782540 PMID:11896595 PMID:11920959 PMID:12826609 PMID:12909720 PMID:12917626 PMID:15037740 PMID:15850016 PMID:15958617 PMID:15982667 PMID:16007150 PMID:16206219 PMID:16312222 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17606709 PMID:17724467 PMID:18453682 PMID:18511570 PMID:18555592 PMID:19012332 PMID:19171880 PMID:19468865 PMID:19556618 PMID:19913028 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20586629 PMID:20972454 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21519010 PMID:21674059 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22887876 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23259501 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25381062 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26230955 PMID:26467025 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26787237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27077130 PMID:27189670 PMID:27276561 PMID:27463065 PMID:27616075 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28279309 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28802053 PMID:28975465 PMID:29058119 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29581140 PMID:29955864 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30675318 PMID:30709381 PMID:30730202 PMID:30816478 PMID:31105275 PMID:31775759 PMID:32000721 PMID:32191290 PMID:32318955 PMID:32475984 PMID:32817165 PMID:33087929 PMID:33300245 PMID:33407742 PMID:34240179 PMID:36219266 More...
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16365025
NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Prf1
perforin 1
ISO
DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553
RGD
PMID:11179007
RGD:1599929
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
G
Rab27a
RAB27A, member RAS oncogene family
ISO
Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P)
RGD
PMID:12531900
RGD:1601587
NCBI chrNW_004624731:6,315,064...6,355,431
Ensembl chrNW_004624731:6,319,092...6,355,534
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_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
G
Cdc42
cell division cycle 42
ISO
ClinVar Annotator: match by term: Noonan-like syndrome
ClinVar
PMID:25741868 PMID:29394990
NCBI chrNW_004624764:6,874,453...6,891,952
G
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_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629
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_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
G
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: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_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910
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_004624763:7,722,275...7,723,482
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_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044
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_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044
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_004624738:10,689,395...10,730,171
Ensembl chrNW_004624738:10,689,152...10,730,171
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_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
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_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:19168746
RGD:8662882
NCBI chrNW_004624749:6,661,142...6,737,988
Ensembl chrNW_004624749:6,708,522...6,739,871
G
Tlr4
toll like receptor 4
ISO
RGD
PMID:11884755
RGD:7794682
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il13
interleukin 13
severity
ISO
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
LOC101698463
HLA class II histocompatibility antigen, DP alpha 1 chain
ISO
RGD
PMID:8854084
RGD:6480649
NCBI chrNW_004624754:23,674,935...23,683,044
Ensembl chrNW_004624754:23,674,448...23,683,662
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cd28
CD28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chrNW_004624765:12,650,092...12,667,168
G
Cfb
complement factor B
ISO
RGD
PMID:7921333
RGD:7421526
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Il1rl1
interleukin 1 receptor like 1
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Il37
interleukin 37
treatment
ISO
RGD
PMID:28992214
RGD:39938858
NCBI chrNW_004624749:12,959,310...12,969,180
G
Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Creld1
cysteine rich with EGF like domains 1
ISO
ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome
ClinVar
PMID:12632326 PMID:24697899 PMID:28492532
NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256
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_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
G
B2m
beta-2-microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chrNW_004624804:11,514,728...11,521,625
G
Cd28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624765:12,650,092...12,667,168
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
G
Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734
NCBI chrNW_004624933:248,298...456,933
Ensembl chrNW_004624933:389,627...456,520
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397
G
Irf4
interferon regulatory factor 4
ISO
DNA:translocation
RGD
PMID:18987657
RGD:11526155
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28659334
NCBI chrNW_004624907:1,713,786...1,739,158
Ensembl chrNW_004624907:1,713,443...1,740,627
G
Rc3h1
ring finger and CCCH-type domains 1
ISO
MouseDO
NCBI chrNW_004624771:7,837,547...7,948,217
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004624730:3,316,122...3,361,820
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413734 PMID:24413737
NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chrNW_004624751:624,569...647,198
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
B2m
beta-2-microglobulin
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:26619011
NCBI chrNW_004624804:11,514,728...11,521,625
G
Bcl2l1
BCL2 like 1
severity
ISO
RGD
PMID:15725478
RGD:11353872
NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
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:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:34476331 More...
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
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:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 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:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID: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:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chrNW_004624765:7,806,560...7,825,520
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397
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_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 More...
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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_004624793:3,699,394...3,706,591
Ensembl chrNW_004624793:3,699,506...3,706,073
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID: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:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
G
Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 More...
NCBI chrNW_004624772:10,358,554...10,369,371
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
G
Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Plasma cell dyscrasia
ClinVar
PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8816796 PMID:9020384 PMID:9047394 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9482117 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11904319 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22666503 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31212162 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 More...
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aicda
activation induced cytidine deaminase
treatment
ISO
RGD
PMID:20404277
RGD:11039454
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Bcl2
BCL2 apoptosis regulator
susceptibility
ISO
human gene in a mouse model
RGD
PMID:14695177
RGD:11526108
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
G
Il10
interleukin 10
ISO
RGD
PMID:26140236
RGD:11049175
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:2022919
RGD:10449448
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
G
Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
G
Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
G
Card11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981
G
Ccl20
C-C motif chemokine ligand 20
disease_progression
ISO
mRNA, protein:increased expression:skin, serum
RGD
PMID:22048239
RGD:7483601
NCBI chrNW_004624843:2,017,738...2,021,153
G
Ccr6
C-C motif chemokine receptor 6
ISO
mRNA, protein:increased expression:skin
RGD
PMID:22048239
RGD:7483601
NCBI chrNW_004624785:12,190,802...12,203,924
G
Cd28
CD28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916 PMID:26258847
NCBI chrNW_004624765:12,650,092...12,667,168
G
Cdkn2b
cyclin dependent kinase inhibitor 2B
disease_progression
ISO
DNA:deletion (human)
RGD
PMID:20118908
RGD:8552306
NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440
G
Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
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Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Il18
interleukin 18
ISO
protein:increased expression:plasma
RGD
PMID:16428475
RGD:8655925
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il4
interleukin 4
ISO
mRNA:increased expression:skin
RGD
PMID:7963654
RGD:7829823
NCBI chrNW_004624733:39,412,800...39,420,079
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Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12754746
NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033
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Nfkb2
nuclear factor kappa B subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187
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Plcg1
phospholipase C gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624919:1,766,533...1,800,130
Ensembl chrNW_004624919:1,766,149...1,803,097
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Prkcq
protein kinase C theta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624775:1,419,596...1,543,805
Ensembl chrNW_004624775:1,419,509...1,502,064
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624730:3,316,122...3,361,820
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chrNW_004624805:3,964,448...4,044,546
Ensembl chrNW_004624805:3,964,450...4,042,527
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Abtb1
ankyrin repeat and BTB domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624974:77,137...81,198
Ensembl chrNW_004624974:77,220...80,876
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Acad11
acyl-CoA dehydrogenase family member 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:8,704,458...8,792,678
Ensembl chrNW_004624730:8,704,350...8,792,741
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Acad9
acyl-CoA dehydrogenase family member 9
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chrNW_004624781:7,683,025...7,717,427
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Ackr4
atypical chemokine receptor 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:8,732,124...8,738,968
Ensembl chrNW_004624730:8,733,586...8,738,961
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Acp3
acid phosphatase 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:8,375,429...8,441,375
Ensembl chrNW_004624730:8,375,258...8,432,302
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462
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Aldh1l1
aldehyde dehydrogenase 1 family member L1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624773:385,583...468,270
Ensembl chrNW_004624773:385,594...468,270
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Amotl2
angiomotin like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,695,648...10,713,188
Ensembl chrNW_004624730:10,695,138...10,713,808
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Anapc13
anaphase promoting complex subunit 13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,805,200...10,811,341
Ensembl chrNW_004624730:10,805,250...10,810,853
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Argfx
arginine-fifty homeobox
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:26,589,149...26,590,917
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Aste1
asteroid homolog 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:6,998,194...7,010,284
Ensembl chrNW_004624730:6,998,274...7,008,828
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Atp2c1
ATPase secretory pathway Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chrNW_004624730:6,865,197...7,001,378
G
Bfsp2
beaded filament structural protein 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:9,685,568...9,772,984
Ensembl chrNW_004624730:9,685,568...9,772,984
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Casr
calcium sensing receptor
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656
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Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624912:2,270,467...2,316,998
Ensembl chrNW_004624912:2,269,829...2,317,154
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Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
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Cdv3
CDV3 homolog
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:9,888,328...9,904,516
G
Cep63
centrosomal protein 63
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,811,159...10,861,973
Ensembl chrNW_004624730:10,817,662...10,864,664
G
Cfap100
cilia and flagella associated protein 100
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624773:149,957...207,015
Ensembl chrNW_004624773:150,205...205,754
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Cfap92
cilia and flagella associated protein 92 (putative)
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624781:7,632,720...7,685,390
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Chchd6
coiled-coil-helix-coiled-coil-helix domain containing 6
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624900:2,500,357...2,752,134
Ensembl chrNW_004624900:2,500,456...2,753,534
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Chst13
carbohydrate sulfotransferase 13
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624773:44,189...68,630
Ensembl chrNW_004624773:43,268...68,365
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Cnbp
CCHC-type zinc finger nucleic acid binding protein
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624943:943,381...955,997
Ensembl chrNW_004624943:944,900...959,999
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Col6a6
collagen type VI alpha 6 chain
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chrNW_004624730:6,503,509...6,640,223
Ensembl chrNW_004624730:6,503,546...6,639,516
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Copg1
COPI coat complex subunit gamma 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:299,625...320,974
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Cpne4
copine 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:7,546,501...8,079,183
Ensembl chrNW_004624730:7,548,099...7,944,326
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Csta
cystatin A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:657,771...671,304
Ensembl chrNW_004624912:657,774...671,329
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Dnajb8
DnaJ heat shock protein family (Hsp40) member B8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:29146883 PMID:29724903 PMID:31710708 More...
NCBI chrNW_004624961:170,909...171,985
G
Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318
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Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:871,024...880,299
Ensembl chrNW_004624912:871,584...880,626
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Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553
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Eefsec
eukaryotic elongation factor, selenocysteine-tRNA specific
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chrNW_004624961:195,904...414,552
Ensembl chrNW_004624961:196,552...414,545
G
Efcab12
EF-hand calcium binding domain 12
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:436,644...451,283
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Efcc1
EF-hand and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624781:7,589,756...7,625,387
Ensembl chrNW_004624781:7,595,408...7,624,733
G
Ephb1
EPH receptor B1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:11,120,018...11,564,972
Ensembl chrNW_004624730:11,119,909...11,565,293
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Fam162a
family with sequence similarity 162 member A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:739,804...763,149
Ensembl chrNW_004624912:739,917...762,939
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Fbxo40
F-box protein 40
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:26,561,050...26,579,450
Ensembl chrNW_004624731:26,562,650...26,579,272
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Fstl1
follistatin like 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:27,789,671...27,839,267
Ensembl chrNW_004624731:27,790,363...27,841,251
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Gata2
GATA binding protein 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar OMIM
PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18250304 PMID:19449416 PMID:20040766 PMID:20803646 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21816832 PMID:21892158 PMID:21892162 PMID:21956389 PMID:22147895 PMID:22271902 PMID:22430350 PMID:22533337 PMID:22649106 PMID:22814295 PMID:22996659 PMID:23223431 PMID:23365458 PMID:23443460 PMID:23502222 PMID:23560626 PMID:23563236 PMID:23728141 PMID:24033149 PMID:24033266 PMID:24077845 PMID:24167460 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24359037 PMID:24514424 PMID:24578498 PMID:24728327 PMID:24754962 PMID:24782121 PMID:25239263 PMID:25241285 PMID:25326637 PMID:25359990 PMID:25619630 PMID:25624456 PMID:25676417 PMID:25741868 PMID:25879889 PMID:25955867 PMID:26022708 PMID:26124496 PMID:26214525 PMID:26264606 PMID:26445707 PMID:26492932 PMID:26660446 PMID:26702063 PMID:26710799 PMID:26716079 PMID:26748574 PMID:26767875 PMID:26812071 PMID:27013649 PMID:27069254 PMID:27232273 PMID:27266944 PMID:27276561 PMID:27288520 PMID:27375010 PMID:27389056 PMID:27416790 PMID:27418648 PMID:27577878 PMID:27680514 PMID:27799394 PMID:27876779 PMID:27894982 PMID:27924436 PMID:28066994 PMID:28104920 PMID:28126493 PMID:28209719 PMID:28234738 PMID:28259234 PMID:28271814 PMID:28373026 PMID:28440875 PMID:28485484 PMID:28492532 PMID:28602958 PMID:28642594 PMID:28654364 PMID:28747912 PMID:28825694 PMID:28873162 PMID:28947108 PMID:29146883 PMID:29146900 PMID:29156497 PMID:29178327 PMID:29189513 PMID:29230432 PMID:29279357 PMID:29365323 PMID:29588856 PMID:29680795 PMID:29724903 PMID:29797310 PMID:29882021 PMID:29906362 PMID:29947977 PMID:30030275 PMID:30101490 PMID:30190467 PMID:30280306 PMID:30564229 PMID:30578959 PMID:30620726 PMID:30697248 PMID:30802360 PMID:30894283 PMID:31035956 PMID:31106410 PMID:31203817 PMID:31245276 PMID:31256854 PMID:31309983 PMID:31340620 PMID:31350183 PMID:31710708 PMID:31732620 PMID:31753093 PMID:31785092 PMID:31958074 PMID:32088370 PMID:32098966 PMID:32135276 PMID:32488879 PMID:32497548 PMID:32555368 PMID:32682923 PMID:32865708 PMID:32888943 PMID:32914014 PMID:33363905 PMID:33370941 PMID:33417088 PMID:33510405 PMID:33560389 PMID:33684095 PMID:33715335 PMID:33759087 PMID:33957466 PMID:34051752 PMID:34387894 PMID:34469508 PMID:34529785 PMID:34619682 PMID:34670919 PMID:34893945 PMID:35181392 PMID:35753512 More...
NCBI chrNW_004624961:147,685...155,614
Ensembl chrNW_004624961:143,358...154,003
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Golgb1
golgin B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:26,438,529...26,526,205
Ensembl chrNW_004624731:26,455,126...26,526,316
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Gp9
glycoprotein IX platelet
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624781:7,579,824...7,581,516
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Gtf2e1
general transcription factor IIE subunit 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:27,453,525...27,484,844
Ensembl chrNW_004624731:27,453,531...27,484,819
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Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624912:1,814,906...1,916,584
Ensembl chrNW_004624912:1,814,906...1,917,009
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Hcls1
hematopoietic cell-specific Lyn substrate 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:26,528,163...26,559,108
Ensembl chrNW_004624731:26,528,097...26,560,695
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Heg1
heart development protein with EGF like domains 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:1,015,889...1,092,875
Ensembl chrNW_004624731:1,020,805...1,092,995
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Hgd
homogentisate 1,2-dioxygenase
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:27,549,245...27,604,142
Ensembl chrNW_004624731:27,548,922...27,604,131
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Hmces
5-hydroxymethylcytosine binding, ES cell specific
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:344,249...353,577
Ensembl chrNW_004624872:344,262...352,936
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Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:1,023,981...1,102,153
Ensembl chrNW_004624912:1,023,567...1,100,937
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Ift122
intraflagellar transport 122
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:462,778...520,217
Ensembl chrNW_004624872:462,916...520,323
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Il20rb
interleukin 20 receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:13,371,898...13,408,927
Ensembl chrNW_004624730:13,378,478...13,409,676
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Ildr1
immunoglobulin like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:269,657...300,537
Ensembl chrNW_004624912:267,185...300,550
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438
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Isy1
ISY1 splicing factor homolog
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624943:968,193...984,683
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Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:804,272...914,204
Ensembl chrNW_004624731:802,854...914,167
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Kalrn
kalirin RhoGEF kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:54,934...756,707
Ensembl chrNW_004624731:121,122...752,942
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Kbtbd12
kelch repeat and BTB domain containing 12
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624974:263,569...317,211
Ensembl chrNW_004624974:262,913...317,308
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Klf15
KLF transcription factor 15
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624773:243,599...256,786
Ensembl chrNW_004624773:243,569...257,531
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Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:772,420...822,580
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Ky
kyphoscoliosis peptidase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,908,558...10,955,497
Ensembl chrNW_004624730:10,908,923...10,955,472
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LOC101700059
histone H1oo
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:533,877...539,770
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LOC101719398
serotransferrin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,078,165...10,109,349
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Mbd4
methyl-CpG binding domain 4, DNA glycosylase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:453,303...462,661
Ensembl chrNW_004624872:451,118...462,509
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Mgll
monoglyceride lipase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624974:85,513...169,904
Ensembl chrNW_004624974:87,600...170,228
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Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:696,488...739,862
Ensembl chrNW_004624912:694,859...727,275
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Mrpl3
mitochondrial ribosomal protein L3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:7,470,673...7,509,922
Ensembl chrNW_004624730:7,470,590...7,510,028
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Msl2
MSL complex subunit 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:12,569,562...12,618,933
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Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:943,067...955,989
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Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561
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Nck1
NCK adaptor protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:13,271,575...13,366,930
Ensembl chrNW_004624730:13,226,315...13,366,661
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Ndufb4
NADH:ubiquinone oxidoreductase subunit B4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:27,634,669...27,641,144
Ensembl chrNW_004624731:27,625,758...27,641,646
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Nek11
NIMA related kinase 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:7,010,314...7,343,072
Ensembl chrNW_004624730:7,011,227...7,346,903
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
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Osbpl11
oxysterol binding protein like 11
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624730:73,322,753...73,390,283
Ensembl chrNW_004624730:73,322,639...73,391,823
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Parp14
poly(ADP-ribose) polymerase family member 14
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:969,144...1,022,506
Ensembl chrNW_004624912:969,236...1,023,564
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Parp9
poly(ADP-ribose) polymerase family member 9
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:827,112...968,501
Ensembl chrNW_004624912:827,547...859,199
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Pccb
propionyl-CoA carboxylase subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:12,662,419...12,811,112
Ensembl chrNW_004624730:12,661,777...12,810,991
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Pdia5
protein disulfide isomerase family A member 5
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:1,408,645...1,523,498
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Pik3r4
phosphoinositide-3-kinase regulatory subunit 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chrNW_004624730:6,642,195...6,744,480
Ensembl chrNW_004624730:6,642,190...6,744,470
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Plxna1
plexin A1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624900:2,779,008...2,825,263
Ensembl chrNW_004624900:2,784,106...2,825,360
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Plxnd1
plexin D1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:542,776...571,019
Ensembl chrNW_004624872:543,553...571,019
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Podxl2
podocalyxin like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624974:43,578...76,918
Ensembl chrNW_004624974:43,335...76,837
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Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:26,649,606...26,808,098
Ensembl chrNW_004624731:26,649,727...26,807,222
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Ppp2r3a
protein phosphatase 2 regulatory subunit B''alpha
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:12,384,691...12,568,115
Ensembl chrNW_004624730:12,429,902...12,567,683
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Prr23e
PRR23 family member E
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624936:1,295,099...1,295,893
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Rab43
RAB43, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624943:991,802...1,024,434
Ensembl chrNW_004624943:991,682...1,024,434
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Rab6b
RAB6B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,134,215...10,197,534
Ensembl chrNW_004624730:10,133,949...10,197,551
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Rab7a
RAB7A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chrNW_004625042:56,509...112,519
Ensembl chrNW_004625042:56,517...112,612
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Rabl3
RAB, member of RAS oncogene family like 3
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:27,484,856...27,537,365
Ensembl chrNW_004624731:27,484,497...27,535,436
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Rho
rhodopsin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:523,892...528,278
Ensembl chrNW_004624872:523,912...527,615
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Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624912:2,324,166...2,351,147
Ensembl chrNW_004624912:2,324,406...2,351,181
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Rpn1
ribophorin I
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chrNW_004624961:9,482...45,569
Ensembl chrNW_004624961:9,488...45,975
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Ruvbl1
RuvB like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chrNW_004624961:427,836...460,887
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Ryk
receptor like tyrosine kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,462,590...10,568,780
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Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:1,531,620...1,628,265
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chrNW_004624961:466,234...477,880
Ensembl chrNW_004624961:467,656...477,884
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Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:1,244,801...1,370,253
Ensembl chrNW_004624912:1,244,801...1,280,609
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Slc12a8
solute carrier family 12 member 8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:1,114,079...1,259,832
Ensembl chrNW_004624731:1,113,489...1,259,344
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Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:180,048...222,909
Ensembl chrNW_004624912:179,969...222,909
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Slc35g2
solute carrier family 35 member G2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:13,226,369...13,261,239
Ensembl chrNW_004624730:13,234,213...13,261,175
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Slc41a3
solute carrier family 41 member 3
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624773:480,486...534,985
Ensembl chrNW_004624773:480,471...534,378
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Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:1,102,252...1,212,569
Ensembl chrNW_004624912:1,102,279...1,212,569
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Slco2a1
solute carrier organic anion transporter family member 2A1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,256,799...10,339,388
Ensembl chrNW_004624730:10,256,799...10,339,827
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Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:1,522,467...1,585,793
Ensembl chrNW_004624731:1,522,098...1,586,066
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Srprb
SRP receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:10,114,870...10,131,833
Ensembl chrNW_004624730:10,114,281...10,133,794
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Stag1
STAG1 cohesin complex component
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:12,762,099...13,158,603
Ensembl chrNW_004624730:12,761,460...13,086,965
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Stxbp5l
syntaxin binding protein 5L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624731:26,815,873...27,305,344
Ensembl chrNW_004624731:26,820,018...27,305,447
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Tmcc1
transmembrane and coiled-coil domain family 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:588,941...688,352
Ensembl chrNW_004624872:588,370...688,311
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Tmem108
transmembrane protein 108
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:9,314,308...9,683,324
Ensembl chrNW_004624730:9,522,166...9,683,365
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Topbp1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:9,916,717...9,994,666
Ensembl chrNW_004624730:9,914,140...9,994,775
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Tpra1
transmembrane protein adipocyte associated 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624961:505,299...519,071
Ensembl chrNW_004624961:502,736...519,353
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Trh
thyrotropin releasing hormone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chrNW_004624872:866,370...868,624
Ensembl chrNW_004624872:866,365...868,739
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Uba5
ubiquitin like modifier activating enzyme 5
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chrNW_004624730:8,791,691...8,819,957
Ensembl chrNW_004624730:8,792,854...8,867,707
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Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:761,235...780,355
Ensembl chrNW_004624731:761,210...779,321
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Uroc1
urocanate hydratase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624773:72,871...107,686
Ensembl chrNW_004624773:72,847...107,686
G
Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chrNW_004624912:762,893...766,690
Ensembl chrNW_004624912:764,076...766,647
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Znf148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624731:1,271,478...1,410,047
Ensembl chrNW_004624731:1,278,242...1,354,063
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Zxdc
ZXD family zinc finger C
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chrNW_004624773:110,812...149,806
Ensembl chrNW_004624773:111,050...148,196
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_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883
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Bdnf
brain derived neurotrophic factor
ISO
RGD
PMID:16315781
RGD:4891110
NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490
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C3
complement C3
ISO
protein:altered expression:lung
RGD
PMID:18069416
RGD:5129502
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
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Ccl19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chrNW_004624736:39,088,741...39,090,745
Ensembl chrNW_004624736:39,088,921...39,090,394
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD
PMID:10384061
RGD:4891436
NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
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Ccr7
C-C motif chemokine receptor 7
ISO
mRNA:increased expression:lung
RGD
PMID:12626344
RGD:5130912
NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations:whole blood :
RGD
PMID:20722470
RGD:4139905
NCBI chrNW_004624827:1,704,733...1,893,579
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:15763444
RGD:4892634
NCBI chrNW_004624807:7,655,777...7,664,484
Ensembl chrNW_004624807:7,655,620...7,662,362
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Crp
C-reactive protein
severity
ISO
RGD
PMID:21086905
RGD:5131289
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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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_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:serum
RGD
PMID:17550373
RGD:5135438
NCBI chrNW_004624757:14,952,966...14,954,343
Ensembl chrNW_004624757:14,952,851...14,954,905
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:serum, respiratory system fluid/secretion
RGD
PMID:17550373
RGD:5135438
NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, T cell
RGD
PMID:9834133
RGD:5135492
NCBI chrNW_004624903:1,958,323...1,961,789
Ensembl chrNW_004624903:1,958,698...1,961,763
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Defb1
defensin beta 1
ISO
protein:increased expression:serum
RGD
PMID:17000097
RGD:4892262
NCBI chrNW_004624861:4,710,687...4,718,867
G
Egr1
early growth response 1
ISO
protein:increased expression:lung (human)
RGD
PMID:16933469
RGD:5131899
NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205
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Hmox1
heme oxygenase 1
ISO
protein:increased activity:sputum
RGD
PMID:19453654
RGD:4145349
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
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Il18
interleukin 18
ISO
protein:increased expression:serum protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:11174201 PMID:16734560
RGD:4889823 RGD:4889863
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il18r1
interleukin 18 receptor 1
severity
ISO
RGD
PMID:14641797
RGD:5024944
NCBI chrNW_004624749:6,875,934...6,909,702
Ensembl chrNW_004624749:6,875,750...6,909,734
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:8239179
RGD:4143198
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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LOC101717043
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_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:15713215
RGD:4143248
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:14665489
RGD:5131177
NCBI chrNW_004624885:2,339,281...2,343,351
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Ngf
nerve growth factor
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 RGD:5144061
NCBI chrNW_004624772:11,009,765...11,070,050
Ensembl chrNW_004624772:11,010,845...11,070,017
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Nod2
nucleotide binding oligomerization domain containing 2
disease_progression
ISO
DNA:polymorphism:exon:2104C>T (human)
RGD
PMID:19679608
RGD:4892066
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
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Nr3c1
nuclear receptor subfamily 3 group C member 1
ISO
protein:increased expression:lung
RGD
PMID:2255800
RGD:4892566
NCBI chrNW_004624774:2,496,276...2,603,894
Ensembl chrNW_004624774:2,495,304...2,602,632
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Ntf3
neurotrophin 3
disease_progression
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16315781 PMID:21059230
RGD:4891110 RGD:5144061
NCBI chrNW_004624860:2,416,448...2,479,216
Ensembl chrNW_004624860:2,416,503...2,479,225
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression: :
RGD
PMID:16315781
RGD:4891110
NCBI chrNW_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577
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Tgfb1
transforming growth factor beta 1
severity
ISO
DNA:polymorphisms: :-509C>T (human)
RGD
PMID:17785866
RGD:4145294
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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Tlr2
toll like receptor 2
ISO
mRNA:decreased expression:alveolar macrophage
RGD
PMID:20813038 PMID:23668840
RGD:4145301 RGD:8553184
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Tnc
tenascin C
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9780295
RGD:4889595
NCBI chrNW_004624760:20,044,900...20,137,260
Ensembl chrNW_004624760:20,044,826...20,137,616
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism:promoter
RGD
PMID:15653992 PMID:20070603
RGD:4143236 RGD:4143466
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (human)
RGD
PMID:21508170
RGD:5131275
NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:20442436
RGD:5685623
NCBI chrNW_004624785:5,466,429...5,487,763
Ensembl chrNW_004624785:5,468,563...5,488,143
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_004624772:10,358,554...10,369,371
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:blood vessel
RGD
PMID:18700251
RGD:8694308
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia
ClinVar
PMID:25741868
NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1
OMIM ClinVar
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:28991257 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34212438 More...
NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Nek8
NIMA related kinase 8
ISO
ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2
OMIM ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 PMID:26862157 PMID:26967905 PMID:28492532 More...
NCBI chrNW_004624786:1,303,283...1,314,188
Ensembl chrNW_004624786:1,303,308...1,314,188
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_004624875:2,224,784...2,229,465
G
Ccl17
C-C motif chemokine ligand 17
ISO
RGD
PMID:15466387
RGD:4145515
NCBI chrNW_004624746:28,655,288...28,657,563
Ensembl chrNW_004624746:28,655,801...28,657,470
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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_004624746:28,694,879...28,700,711
Ensembl chrNW_004624746:28,694,735...28,700,827
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21273392
RGD:5683877
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21273392
RGD:5683877
NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893
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Il13
interleukin 13
treatment
ISO
RGD
PMID:10857756
RGD:8549624
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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Tlr3
toll like receptor 3
ISO
RGD
PMID:19009529
RGD:5129133
NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Arl2bp
ARF like GTPase 2 binding protein
ISO
ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 PMID:28041643 PMID:28492532 PMID:30210231 PMID:31425546 PMID:32581362 PMID:34906502 PMID:36909829 PMID:38649918 More...
NCBI chrNW_004624746:28,798,870...28,805,988
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acvr2b
activin A receptor type 2B
ISO
OMIM:208530
MouseDO
NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Right atrial isomerism
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 PMID:33131162 PMID:34486251 More...
NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Right atrial isomerism
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 PMID:33131162 PMID:34486251 More...
NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953
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Upf1
UPF1 RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: Right atrial isomerism
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chrNW_004624908:1,909,995...1,935,370
Ensembl chrNW_004624908:1,910,315...1,933,655
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:25885343
RGD:25330345
NCBI chrNW_004624769:21,399,747...21,617,753
G
Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chrNW_004624743:3,299,329...3,549,182
Ensembl chrNW_004624743:3,317,351...3,552,161
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ace
angiotensin I converting enzyme
severity disease_progression
ISO
DNA:SNP, insertion/deletion, repeat:enhancer, intron 16, 3' utr: DNA:SNP:enhancer: protein:increased activity:serum (human) DNA:insertion/deletion:intron 16:
RGD
PMID:183595 PMID:6287584 PMID:11168787 PMID:18496980 PMID:29229112
RGD:11039025 RGD:40400721 RGD:40400722 RGD:40400746 RGD:40400908
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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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_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
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Anxa11
annexin A11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19165924
NCBI chrNW_004624754:12,463,883...12,506,604
Ensembl chrNW_004624754:12,463,864...12,507,185
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Ccl17
C-C motif chemokine ligand 17
ISO
protein:increased expression:serum
RGD
PMID:17949965
RGD:4145494
NCBI chrNW_004624746:28,655,288...28,657,563
Ensembl chrNW_004624746:28,655,801...28,657,470
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Cd14
CD14 molecule
susceptibility
ISO
protein:increased expression:serum DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:20430603
RGD:4144780
NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
mRNA:increased expression:skin:
RGD
PMID:12885947
RGD:8662819
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
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Cfh
complement factor H
susceptibility
ISO
DNA:SNP:cds:p.Y402H(human)
RGD
PMID:23497844
RGD:7365014
NCBI chrNW_004624798:3,332,549...3,414,435
G
Cma1
chymase 1
ISO
DNA:snp:5' utr:g.-526C>T (human)
RGD
PMID:16446531
RGD:5128561
NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:polymorphism:exon (human)
RGD
PMID:14620161
RGD:4891520
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
Il18
interleukin 18
disease_progression
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:16100009 PMID:17015003
RGD:4889815
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human)
RGD
PMID:21846945
RGD:8549545
NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109
G
LOC101697345
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8909942 PMID:14508706 PMID:17956852
NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human)
RGD
PMID:9659531
RGD:36174017
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
Prdx5
peroxiredoxin 5
ISO
protein:increased expression:alveolus of lung (human)
RGD
PMID:22837380
RGD:41404683
NCBI chrNW_004624767:21,995,542...21,998,609
Ensembl chrNW_004624767:21,995,681...21,997,149
G
Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility
ISO
DNA:SNP: :8473 T > C (human) protein:decreased expression:lung:
RGD
PMID:14511257 PMID:19042116
RGD:5135505 RGD:5135507
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
G
Sftpd
surfactant protein D
ISO
associated with Uveitis;protein:increased expression:serum
RGD
PMID:20151281
RGD:4143491
NCBI chrNW_004624841:6,917,067...6,938,594
Ensembl chrNW_004624841:6,916,849...6,936,077
G
Slc11a1
solute carrier family 11 member 1
ISO
DNA:repeat, SNP:promoter, intron (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16597321 PMID:22160516
RGD:5684925
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
G
Tgfb1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17785866
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:16096327
RGD:11522758
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis
OMIM ClinVar
PMID:8488843 PMID:9279208 PMID:9360638 PMID:22949395 PMID:24126160 PMID:25741868 PMID:28492532 PMID:32808727 PMID:35120450 PMID:35460704 PMID:35628605 PMID:35639372 PMID:37128917 More...
NCBI chrNW_004624907:1,752,322...1,755,308
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_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
G
Bcl10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: Sezary syndrome
ClinVar
PMID:9989495
NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
G
Brd9
bromodomain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624751:421,945...439,146
Ensembl chrNW_004624751:421,154...439,544
G
Card11
caspase recruitment domain family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981
G
Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180
G
Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114
G
Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
G
Il2rg
interleukin 2 receptor subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004624903:1,402,586...1,406,554
Ensembl chrNW_004624903:1,402,481...1,406,600
G
Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
G
Mapk1
mitogen-activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757
G
Plcg1
phospholipase C gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004624919:1,766,533...1,800,130
Ensembl chrNW_004624919:1,766,149...1,803,097
G
Prkg1
protein kinase cGMP-dependent 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624791:11,334,146...12,656,480
Ensembl chrNW_004624791:11,338,510...12,654,812
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624791:13,975,235...14,056,900
G
Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
G
Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004624764:10,527,012...10,566,625
Ensembl chrNW_004624764:10,526,948...10,569,910
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:16403914
RGD:8661723
NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
G
Tet2
tet methylcytosine dioxygenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667
NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258847
NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551667 PMID:26551670
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Zeb1
zinc finger E-box binding homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26551670
NCBI chrNW_004624805:3,964,448...4,044,546
Ensembl chrNW_004624805:3,964,450...4,042,527
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Slc29a3
solute carrier family 29 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20140240
NCBI chrNW_004624754:5,296,083...5,330,445
Ensembl chrNW_004624754:5,296,173...5,329,778
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acvr2b
activin A receptor type 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9916847
NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035
G
Anks6
ankyrin repeat and sterile alpha motif domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23793029
NCBI chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971
G
Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532
NCBI chrNW_004624730:58,436,427...58,471,926
Ensembl chrNW_004624730:58,436,469...58,471,799
G
Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chrNW_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756
G
Celsr1
cadherin EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400
G
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877
NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760
G
Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chrNW_004624745:20,862,313...20,877,188
Ensembl chrNW_004624745:20,862,538...20,876,646
G
Cfap300
cilia and flagella associated protein 300
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chrNW_004624878:801,173...830,479
Ensembl chrNW_004624878:801,132...830,574
G
Cfap46
cilia and flagella associated protein 46
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chrNW_004624737:13,897,146...14,021,257
Ensembl chrNW_004624737:13,897,221...14,015,533
G
Cfap52
cilia and flagella associated protein 52
ISO
ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis
ClinVar
PMID:16199547 PMID:25469542 PMID:25741868 PMID:28492532 PMID:33139725
NCBI chrNW_004624786:11,992,545...12,050,112
Ensembl chrNW_004624786:11,992,553...12,050,220
G
Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:25741868
NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714
G
Dand5
DAN domain BMP antagonist family member 5
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:25741868
NCBI chrNW_004624901:534,828...538,923
Ensembl chrNW_004624901:535,137...538,384
G
Dnaaf1
dynein axonemal assembly factor 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 PMID:25741868 PMID:27884173 PMID:28492532 More...
NCBI chrNW_004624746:3,412,888...3,441,710
G
Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968
G
Dnah5
dynein axonemal heavy chain 5
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 PMID:26228299 PMID:28492532 PMID:30290127 More...
NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403
G
Dnah6
dynein axonemal heavy chain 6
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chrNW_004624749:18,267,959...18,516,919
Ensembl chrNW_004624749:18,268,110...18,506,625
G
Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
PMID:17924340 PMID:20413652 PMID:28492532 PMID:32144877
NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953
G
Nme7
NME/NM23 family member 7
susceptibility
ISO
RGD
PMID:20080492
RGD:155630601
NCBI chrNW_004624826:7,077,885...7,300,398
Ensembl chrNW_004624826:7,078,140...7,258,997
G
Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Situs inversus
ClinVar
PMID:19553149 PMID:25741868
NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644
G
Nphp3
nephrocystin 3
ISO
RGD
PMID:18371931
RGD:11352488
NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
G
Odad4
outer dynein arm docking complex subunit 4
ISO
ClinVar Annotator: match by term: Laterality sequence
ClinVar
NCBI chrNW_004624795:1,861,985...1,876,766
Ensembl chrNW_004624795:1,861,991...1,876,737
G
Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
susceptibility
ISO
ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus
ClinVar RGD
PMID:20080492 PMID:25741868 PMID:27272319 PMID:27616478 PMID:30664273 PMID:32111882 PMID:33655537 More...
RGD:155630601
NCBI chrNW_004624740:5,619,253...5,703,032
G
Zic3
Zic family member 3
ISO
X-linked visceral heterotaxy, OMIM:306955
RGD
PMID:9354794
RGD:1599909
NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ramp2
receptor activity modifying protein 2
ameliorates
ISO
RGD
PMID:31754214
RGD:152985691
NCBI chrNW_004624795:1,435,121...1,436,421
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20961953
NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973
G
Tlx1
T cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7908720
NCBI chrNW_004624831:710,787...717,367
Ensembl chrNW_004624831:710,389...717,339
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_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26558449
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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_004624733:32,521,318...32,527,499
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Bax
BCL2 associated X, apoptosis regulator
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9531611
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
G
Bcl10
BCL10 immune signaling adaptor
ISO
ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia
ClinVar
PMID:9989495
NCBI chrNW_004624742:12,210,333...12,222,533
Ensembl chrNW_004624742:12,210,360...12,221,759
G
Bcl11b
BCL11 transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chrNW_004624734:4,560,362...4,649,219
Ensembl chrNW_004624734:4,560,699...4,647,858
G
Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
G
Card11
caspase recruitment domain family member 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25384343
RGD:11100039
NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981
G
Ccnd3
cyclin D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004624754:17,148,108...17,194,626
Ensembl chrNW_004624754:17,148,076...17,194,000
G
Cnot3
CCR4-NOT transcription complex subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chrNW_004624832:2,429,809...2,441,886
Ensembl chrNW_004624832:2,429,809...2,441,869
G
Csf3r
colony stimulating factor 3 receptor
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31697825 More...
NCBI chrNW_004624764:19,356,848...19,396,209
Ensembl chrNW_004624764:19,356,361...19,367,860
G
Ctcf
CCCTC-binding factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004624746:18,705,017...18,760,345
Ensembl chrNW_004624746:18,706,663...18,760,203
G
Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:26931577
RGD:11352292
NCBI chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528
G
Dnmt3a
DNA methyltransferase 3 alpha
susceptibility disease_progression
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human) ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia DNA:mutations: :
RGD ClinVar
PMID:23341344 PMID:26072070
RGD:11041131 RGD:9589073
NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:22431509
RGD:10755340
NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196
G
Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336
G
Hmga1
high mobility group AT-hook 1
ISO
MouseDO
NCBI chrNW_004624754:22,888,052...22,900,685
Ensembl chrNW_004624754:22,892,226...22,898,807
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21892159
NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859
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Jak1
Janus kinase 1
ISO
DNA:missense mutation: :c.1972G>T (p.V658F) (human)
RGD
PMID:18559588
RGD:18936996
NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981
G
Jak3
Janus kinase 3
ISO
RGD
PMID:25193870
RGD:11531122
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
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Kras
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:23673656
RGD:11060136
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Lmo1
LIM domain only 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:3259177 PMID:19246562
NCBI chrNW_004624766:393,017...431,118
Ensembl chrNW_004624766:392,953...431,015
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Lmo2
LIM domain only 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2034676 PMID:19246562 PMID:24394663
NCBI chrNW_004624767:13,245,783...13,257,322
Ensembl chrNW_004624767:13,245,984...13,257,440
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Lyl1
LYL1 basic helix-loop-helix family member
ISO
OMIM
NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562
NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259
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Myb
MYB proto-oncogene, transcription factor
ISO
ClinVar Annotator: match by term: MYB-related condition
ClinVar
PMID:28492532
NCBI chrNW_004624886:2,455,704...2,489,593
G
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004624865:780,163...785,776
G
Nbn
nibrin
ISO
MouseDO
NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
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Nup98
nucleoporin 98 and 96 precursor
ISO
DNA:translocation:cds: (human)
RGD
PMID:10477737
RGD:9693698
NCBI chrNW_004624817:5,125,658...5,245,453
Ensembl chrNW_004624817:5,123,977...5,245,286
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Pdgfra
platelet derived growth factor receptor alpha
ISO
RGD
PMID:24486648
RGD:11075087
NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
G
Phf6
PHD finger protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20228800
NCBI chrNW_004624797:14,081,381...14,140,180
Ensembl chrNW_004624797:14,081,302...14,128,487
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia
ClinVar
PMID:11992261 PMID:12161469 PMID:15240615 PMID:16358218 PMID:17020470 PMID:17339163 PMID:18470943 PMID:18678287 PMID:19020799 PMID:21106241 PMID:21784453 PMID:21901340 PMID:22681964 PMID:23321623 PMID:24183200 PMID:25741868 PMID:27030275 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
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Ptpn2
protein tyrosine phosphatase non-receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20473312
NCBI chrNW_004624770:19,808,400...19,877,494
Ensembl chrNW_004624770:19,808,400...19,876,503
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Rpl10
ribosomal protein L10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23263491
NCBI chrNW_004624946:860,639...863,636
G
Rpl11
ribosomal protein L11
ISO
DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human)
RGD
PMID:23377281
RGD:11535972
NCBI chrNW_004624764:8,258,656...8,262,842
Ensembl chrNW_004624764:8,258,709...8,266,016
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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_004624742:4,973,229...4,983,361
G
Runx1
RUNX family transcription factor 1
disease_progression
ISO
RGD
PMID:21828118
RGD:11251708
NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968
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Spi1
Spi-1 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671687
NCBI chrNW_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406
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Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19796711
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Tal1
TAL bHLH transcription factor 1, erythroid differentiation factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246562 PMID:24394663
NCBI chrNW_004624859:5,586,489...5,601,225
Ensembl chrNW_004624859:5,586,977...5,601,460
G
Tcl1a
TCL1 family AKT coactivator A
ISO
mRNA:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:10077617
RGD:1599360
NCBI chrNW_004624734:8,111,655...8,116,084
G
Tlx1
T cell leukemia homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20972433
NCBI chrNW_004624831:710,787...717,367
Ensembl chrNW_004624831:710,389...717,339
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Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471820
NCBI chrNW_004624828:2,499,811...2,518,817
Ensembl chrNW_004624828:2,500,339...2,517,694
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Zfp36l2
ZFP36 ring finger protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28671688
NCBI chrNW_004624738:24,743,388...24,747,572
Ensembl chrNW_004624738:24,744,213...24,747,591
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cntn2
contactin 2
ISO
MouseDO
NCBI chrNW_004624807:6,052,591...6,080,421
Ensembl chrNW_004624807:6,056,339...6,073,588
G
Zeb2
zinc finger E-box binding homeobox 2
ISO
MouseDO
NCBI chrNW_004624732:44,097,348...44,226,701
Ensembl chrNW_004624732:44,101,613...44,139,997
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_004624734:8,111,655...8,116,084
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aicda
activation induced cytidine deaminase
ISO
RGD
PMID:20357822
RGD:11039456
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25658812
NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
G
Asxl3
ASXL transcriptional regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004624779:8,099,434...8,270,812
Ensembl chrNW_004624779:8,144,474...8,271,269
G
Bcl6
BCL6 transcription repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15375218
NCBI chrNW_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689
G
Cbx7
chromobox 7
ISO
RGD
PMID:17374722
RGD:11352707
NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934
G
Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
RGD
PMID:16462758 PMID:20369488
RGD:8547768 RGD:8662844
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
G
Ddx3x
DEAD-box helicase 3 X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004624762:14,290,267...14,305,437
Ensembl chrNW_004624762:14,290,267...14,305,633
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Egr1
early growth response 1
ISO
RGD
PMID:17420284
RGD:5131859
NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205
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Fgfr1
fibroblast growth factor receptor 1
ISO
RGD
PMID:19506298
RGD:11352666
NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870
G
Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
G
Ier3
immediate early response 3
ISO
human gene in a mouse model
RGD
PMID:14534530
RGD:1331843
NCBI chrNW_004624754:24,991,650...24,992,645
Ensembl chrNW_004624754:24,991,690...24,992,643
G
Il13
interleukin 13
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
Il13ra2
interleukin 13 receptor subunit alpha 2
treatment
ISO
RGD
PMID:19951958
RGD:8549563
NCBI chrNW_004624940:825,368...842,268
Ensembl chrNW_004624940:819,854...842,284
G
Il17d
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chrNW_004624776:16,924,085...16,941,141
Ensembl chrNW_004624776:16,924,085...16,941,729
G
Jak3
Janus kinase 3
treatment
ISO
RGD
PMID:24153015
RGD:11531129
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
G
Kdm1a
lysine demethylase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chrNW_004624764:7,664,550...7,742,494
G
Kdm2b
lysine demethylase 2B
ISO
DNA:insertions:promoter:multiple (rat)
RGD
PMID:18250326
RGD:9588252
NCBI chrNW_004624747:21,922,249...22,047,246
G
Kdm4c
lysine demethylase 4C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chrNW_004624736:11,254,125...11,711,498
Ensembl chrNW_004624736:11,382,598...11,711,536
G
Kmt2d
lysine methyltransferase 2D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
G
Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868
G
Pparg
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17255338
NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481
G
Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24584070
NCBI chrNW_004624730:3,316,122...3,361,820
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192917
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
G
Tmem260
transmembrane protein 260
disease_progression
ISO
DNA:SNP: 3'UTR:rs4901706 (human)
RGD
PMID:24831772
RGD:155882447
NCBI chrNW_004624884:1,606,197...1,663,752
Ensembl chrNW_004624884:1,606,199...1,663,749
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20369488 PMID:26192917 PMID:29438700
RGD:8547768
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216
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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_004624784:3,083,664...3,144,017
Ensembl chrNW_004624784:3,084,385...3,145,517
G
Jak3
Janus kinase 3
ISO
DNA:missense mutations:exon:pM511I, p.R657Q (human)
RGD
PMID:24446122
RGD:11531125
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome
ClinVar
PMID:14585638 PMID:15703190 PMID:17273972
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Gtf2i
general transcription factor IIi
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chrNW_004624740:13,446,811...13,547,050
Ensembl chrNW_004624740:13,445,872...13,547,056
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aqp4
aquaporin 4
ISO
associated with Myasthenia Gravis
RGD
PMID:20728226
RGD:5148025
NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628
G
Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515
G
Birc2
baculoviral IAP repeat containing 2
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chrNW_004624878:476,460...514,637
G
Birc5
baculoviral IAP repeat containing 5
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940
G
Bsg
basigin (Ok blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
NCBI chrNW_004624828:7,913,297...7,920,891
Ensembl chrNW_004624828:7,913,099...7,920,804
G
Cyld
CYLD lysine 63 deubiquitinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chrNW_004624757:5,895,912...5,953,485
G
Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)
RGD
PMID:24260492
RGD:9589098
NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 PMID:32732226 PMID:34958143 More...
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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Kit
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:7530509 PMID:9438854 PMID:10224103 PMID:10680913 PMID:11276010 PMID:11505412 PMID:12960119 PMID:14977822 PMID:15790786 PMID:16226710 PMID:16731599 PMID:16908931 PMID:17372901 PMID:17699867 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18936790 PMID:18980976 PMID:19461405 PMID:19671763 PMID:19812602 PMID:19861435 PMID:19996579 PMID:20736294 PMID:20970876 PMID:21159146 PMID:21325067 PMID:21642685 PMID:21690468 PMID:21969494 PMID:22261812 PMID:22357254 PMID:23375402 PMID:23598963 PMID:24755198 PMID:25157968 PMID:27771813 PMID:27981619 PMID:28492532 PMID:28710566 More...
NCBI chrNW_004624761:14,733,912...14,831,428
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Thymoma
ClinVar
PMID:20859122 PMID:24224811 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27283355 PMID:31775759 PMID:32732226 PMID:34958143 More...
NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
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Naip
NLR family apoptosis inhibitory protein
ameliorates
ISO
mRNA:increased expression:thymus (human)
RGD
PMID:31964418
RGD:153344516
NCBI chrNW_004624905:437,799...485,774
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Pbrm1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chrNW_004624822:4,529,350...4,666,714
Ensembl chrNW_004624822:4,529,007...4,663,165
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24974848
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Foxn1
forkhead box N1
ISO
RGD
PMID:26931321
RGD:11568681
NCBI chrNW_004624786:1,114,305...1,127,787
Ensembl chrNW_004624786:1,114,305...1,127,683
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Cd274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28736328
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10850423
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
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Fgfr3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells (human)
RGD
PMID:30061236
RGD:36947883
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aifm3
AIF family member 3
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:710,562...724,699
Ensembl chrNW_004624945:710,820...722,621
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Arvcf
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988
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Ccdc188
coiled-coil domain containing 188
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:756,298...759,056
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553
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Chrd
chordin
ISO
OMIM:192430
MouseDO
NCBI chrNW_004624730:72,201,239...72,209,843
Ensembl chrNW_004624730:72,201,644...72,209,843
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
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Crkl
CRK like proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:734,532...767,184
Ensembl chrNW_004624945:734,532...767,168
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CUNH22orf39
chromosome unknown C22orf39 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341
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Dgcr6l
DiGeorge syndrome critical region gene 6 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:905,239...910,562
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Dgcr8
DGCR8 microprocessor complex subunit
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:689,751...722,266
Ensembl chrNW_004624747:689,955...722,266
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Ednra
endothelin receptor type A
ISO
OMIM:192430
MouseDO
NCBI chrNW_004624853:6,298,406...6,362,353
Ensembl chrNW_004624853:6,302,751...6,360,089
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Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191
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Klhl22
kelch like family member 22
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:409,093...446,619
Ensembl chrNW_004624945:408,999...441,975
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LOC101713307
protein HIRA
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:9...95,643
G
Lrrc74b
leucine rich repeat containing 74B
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:656,956...685,824
Ensembl chrNW_004624945:656,983...670,865
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
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Mapk1
mitogen-activated protein kinase 1
ISO
OMIM:192430
MouseDO
NCBI chrNW_004624747:1,296,062...1,389,674
Ensembl chrNW_004624747:1,296,221...1,389,757
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Med15
mediator complex subunit 15
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:488,396...562,084
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913
G
P2rx6
purinergic receptor P2X 6
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:646,361...687,901
Ensembl chrNW_004624945:648,499...656,075
G
Pi4ka
phosphatidylinositol 4-kinase alpha
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684
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Prickle1
prickle planar cell polarity protein 1
ISO
OMIM:192430
MouseDO
NCBI chrNW_004624816:10,087,866...10,185,004
Ensembl chrNW_004624816:10,164,666...10,184,994
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Ranbp1
RAN binding protein 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:728,123...736,045
Ensembl chrNW_004624747:728,014...736,043
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Rtl10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:484,995...486,791
G
Rtn4r
reticulon 4 receptor
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:829,947...855,942
Ensembl chrNW_004624747:829,850...855,991
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Scarf2
scavenger receptor class F member 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:392,615...404,961
Ensembl chrNW_004624945:393,412...404,958
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:343,940...352,016
Ensembl chrNW_004624747:343,934...353,561
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Serpind1
serpin family D member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:919,639...932,515
Ensembl chrNW_004624945:915,789...932,515
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667
G
Slc7a4
solute carrier family 7 member 4
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:642,082...646,247
Ensembl chrNW_004624945:642,432...646,231
G
Snap29
synaptosome associated protein 29
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:799,831...837,720
Ensembl chrNW_004624945:801,833...837,564
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:647,571...686,870
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:25860641 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
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Thap7
THAP domain containing 7
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:687,941...690,480
Ensembl chrNW_004624945:688,185...690,480
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Trappc10
trafficking protein particle complex subunit 10
ISO
OMIM:192430
MouseDO
NCBI chrNW_004624745:29,959,237...30,031,074
Ensembl chrNW_004624745:29,961,054...30,031,113
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Trmt2a
tRNA methyltransferase 2 homolog A
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:722,901...727,979
Ensembl chrNW_004624747:722,607...727,947
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097
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Zdhhc8
zinc finger DHHC-type palmitoyltransferase 8
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624747:740,352...755,891
Ensembl chrNW_004624747:739,594...754,989
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Znf74
zinc finger protein 74
ISO
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624945:356,794...367,202
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acvr2b
activin A receptor type 2B
ISO
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:25741868
NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035
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Anks6
ankyrin repeat and sterile alpha motif domain containing 6
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624747:5,703,647...5,755,344
Ensembl chrNW_004624747:5,704,477...5,755,321
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Bicc1
BicC family RNA binding protein 1
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624791:4,732,581...5,057,912
G
Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:21131972 PMID:23255504 PMID:25741868 PMID:28492532
NCBI chrNW_004624730:58,436,427...58,471,926
Ensembl chrNW_004624730:58,436,469...58,471,799
G
Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chrNW_004624801:9,160,852...9,217,033
Ensembl chrNW_004624801:9,160,805...9,217,756
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Celsr1
cadherin EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400
G
Cep290
centrosomal protein 290
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
G
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760
G
Cfap298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chrNW_004624745:20,862,313...20,877,188
Ensembl chrNW_004624745:20,862,538...20,876,646
G
Cfap300
cilia and flagella associated protein 300
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chrNW_004624878:801,173...830,479
Ensembl chrNW_004624878:801,132...830,574
G
Cfap46
cilia and flagella associated protein 46
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chrNW_004624737:13,897,146...14,021,257
Ensembl chrNW_004624737:13,897,221...14,015,533
G
Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:25741868
NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714
G
Cplane2
ciliogenesis and planar polarity effector complex subunit 2
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624764:2,350,780...2,358,514
Ensembl chrNW_004624764:2,350,780...2,358,495
G
Cripto
cripto, EGF-CFC family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11062482
NCBI chrNW_004624730:74,547,226...74,550,526
G
CUNH1orf127
chromosome unknown C1orf127 homolog
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624818:1,799,997...1,826,300
Ensembl chrNW_004624818:1,809,875...1,826,350
G
CUNH2orf74
chromosome unknown C2orf74 homolog
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624833:746,419...748,845
Ensembl chrNW_004624833:746,124...749,415
G
Dand5
DAN domain BMP antagonist family member 5
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:25741868
NCBI chrNW_004624901:534,828...538,923
Ensembl chrNW_004624901:535,137...538,384
G
Daw1
dynein assembly factor with WD repeats 1
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624843:2,058,443...2,105,646
Ensembl chrNW_004624843:2,058,330...2,108,045
G
Dnaaf1
dynein axonemal assembly factor 1
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:16199547 PMID:19944400 PMID:19944405 PMID:24033266 PMID:25158045 PMID:25741868 PMID:27884173 PMID:28492532 More...
NCBI chrNW_004624746:3,412,888...3,441,710
G
Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624735:23,269,253...23,355,832
Ensembl chrNW_004624735:23,269,414...23,355,968
G
Dnaaf3
dynein axonemal assembly factor 3
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624832:2,081,239...2,087,833
Ensembl chrNW_004624832:2,082,494...2,087,537
G
Dnah11
dynein axonemal heavy chain 11
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815
G
Dnah5
dynein axonemal heavy chain 5
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
PMID:11788826 PMID:16627867 PMID:19357118 PMID:25186273 PMID:25741868 PMID:26228299 PMID:28492532 PMID:30290127 More...
NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403
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Dnah6
dynein axonemal heavy chain 6
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chrNW_004624749:18,267,959...18,516,919
Ensembl chrNW_004624749:18,268,110...18,506,625
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Dnai1
dynein axonemal intermediate chain 1
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624736:38,858,918...38,922,092
Ensembl chrNW_004624736:38,859,050...38,922,097
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Drc1
dynein regulatory complex subunit 1
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624738:8,540,863...8,599,386
Ensembl chrNW_004624738:8,541,063...8,599,491
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Foxh1
forkhead box H1
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774
G
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Visceral heterotaxy ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy
OMIM ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953
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Ift74
intraflagellar transport 74
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624736:31,188,963...31,308,872
Ensembl chrNW_004624736:31,188,987...31,306,815
G
Lefty2
left-right determination factor 2
ISO
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
NCBI chrNW_004624807:71,011...75,210
G
Megf8
multiple EGF like domains 8
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624907:397,008...438,091
Ensembl chrNW_004624907:397,008...438,091
G
Mmp21
matrix metallopeptidase 21
ISO
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:24033266 PMID:25741868 PMID:26437028
NCBI chrNW_004624737:21,395,963...21,402,925
Ensembl chrNW_004624737:21,385,497...21,402,897
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Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:19064609 PMID:25741868 PMID:28492532
NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644
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Odad2
outer dynein arm docking complex subunit 2
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624805:6,192,843...6,365,982
Ensembl chrNW_004624805:6,193,217...6,362,776
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Odad4
outer dynein arm docking complex subunit 4
ISO
ClinVar Annotator: match by term: Situs ambiguus
ClinVar
NCBI chrNW_004624795:1,861,985...1,876,766
Ensembl chrNW_004624795:1,861,991...1,876,737
G
Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624811:3,453,218...3,862,970
G
Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy
ClinVar
PMID:33655537
NCBI chrNW_004624740:5,619,253...5,703,032
G
Psme4
proteasome activator subunit 4
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624833:8,035,768...8,137,655
Ensembl chrNW_004624833:8,035,768...8,137,635
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Rfx3
regulatory factor X3
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624736:8,001,078...8,301,856
Ensembl chrNW_004624736:8,003,234...8,161,150
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Slit2
slit guidance ligand 2
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266
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Tbc1d32
TBC1 domain family member 32
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624798:9,444,536...9,609,957
Ensembl chrNW_004624798:9,444,919...9,609,134
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Tmem67
transmembrane protein 67
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
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Upf1
UPF1 RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: GDF1-related condition
ClinVar
PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 PMID:32144877 More...
NCBI chrNW_004624908:1,909,995...1,935,370
Ensembl chrNW_004624908:1,910,315...1,933,655
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Zic3
Zic family member 3
ISO
OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779
MouseDO
NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cfap52
cilia and flagella associated protein 52
ISO
ClinVar Annotator: match by term: CFAP52-related condition | ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility
OMIM ClinVar
PMID:25469542 PMID:25741868 PMID:28492532 PMID:33139725
NCBI chrNW_004624786:11,992,545...12,050,112
Ensembl chrNW_004624786:11,992,553...12,050,220
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cfap45
cilia and flagella associated protein 45
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility
OMIM ClinVar
PMID:33139725
NCBI chrNW_004624794:1,344,107...1,380,069
Ensembl chrNW_004624794:1,352,445...1,379,961
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Acaa1
acetyl-CoA acyltransferase 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,665,228...2,677,248
Ensembl chrNW_004624731:2,665,228...2,676,497
G
Acvr2b
activin A receptor type 2B
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
OMIM ClinVar
PMID:2049719 PMID:9536098 PMID:9916847 PMID:16199547 PMID:17576681 PMID:21864452 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30120289 PMID:30622330 More...
NCBI chrNW_004624731:2,557,993...2,600,250
Ensembl chrNW_004624731:2,566,063...2,600,035
G
Aprg1
APRG1 tumor suppressor candidate
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:20,750,289...20,750,716
G
Ctdspl
CTD small phosphatase like
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:20,154,468...20,290,975
Ensembl chrNW_004624773:20,158,045...20,290,992
G
Dlec1
DLEC1 cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:20,029,419...20,089,205
Ensembl chrNW_004624773:20,031,294...20,092,420
G
Epm2aip1
EPM2A interacting protein 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624788:15,102,663...15,110,354
Ensembl chrNW_004624788:15,108,361...15,110,187
G
Exog
exo/endonuclease G
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,515,294...2,550,531
Ensembl chrNW_004624731:2,514,513...2,550,617
G
Golga4
golgin A4
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624890:931,878...938,932
G
Itga9
integrin subunit alpha 9
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:20,336,975...20,735,081
Ensembl chrNW_004624773:20,341,335...20,735,189
G
Lrrfip2
LRR binding FLII interacting protein 2
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624788:15,158,920...15,294,785
G
Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535
G
Myd88
MYD88 innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
G
Oxsr1
oxidative stress responsive kinase 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,703,295...2,825,017
Ensembl chrNW_004624731:2,703,301...2,826,419
G
Piezo2
piezo type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:25741868
NCBI chrNW_004624770:18,835,706...19,157,177
Ensembl chrNW_004624770:18,836,899...19,157,114
G
Plcd1
phospholipase C delta 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:20,108,383...20,130,630
Ensembl chrNW_004624773:20,108,004...20,130,630
G
Scn10a
sodium voltage-gated channel alpha subunit 10
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,254,445...2,356,174
Ensembl chrNW_004624731:2,254,445...2,355,738
G
Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,065,228...2,203,215
G
Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,401,358...2,498,212
Ensembl chrNW_004624731:2,401,380...2,498,211
G
Slc22a13
solute carrier family 22 member 13
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:19,950,353...19,968,029
Ensembl chrNW_004624773:19,950,303...19,962,575
G
Slc22a14
solute carrier family 22 member 14
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:19,964,690...19,980,122
Ensembl chrNW_004624773:19,969,763...19,980,009
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Vill
villin like
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624773:20,130,853...20,144,417
G
Xylb
xylulokinase
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624731:2,616,924...2,658,675
Ensembl chrNW_004624731:2,619,334...2,658,967
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Eif4ebp2
eukaryotic translation initiation factor 4E binding protein 2
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal
ClinVar
PMID:12447384 PMID:18579681 PMID:28492532
NCBI chrNW_004624754:4,523,616...4,553,994
Ensembl chrNW_004624754:4,523,661...4,549,936
G
Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-related disorder
OMIM ClinVar
PMID:9354794 PMID:9536098 PMID:12447384 PMID:16199547 PMID:17576681 PMID:18579681 PMID:19064609 PMID:19553149 PMID:19933292 PMID:22352765 PMID:24033266 PMID:25741868 PMID:26121141 PMID:28492532 PMID:29368431 PMID:30293987 More...
NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644
G
Pald1
phosphatase domain containing paladin 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624754:4,591,504...4,661,195
Ensembl chrNW_004624754:4,605,913...4,661,299
G
Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal
ClinVar
PMID:28492532
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cfap53
cilia and flagella associated protein 53
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22577226 PMID:25504577 PMID:25741868 PMID:26531781 PMID:28492532 More...
NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mmp21
matrix metallopeptidase 21
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal | ClinVar Annotator: match by term: MMP21-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:26429889 PMID:26437028 PMID:26437029 PMID:28492532 More...
NCBI chrNW_004624737:21,395,963...21,402,925
Ensembl chrNW_004624737:21,385,497...21,402,897
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal | ClinVar Annotator: match by term: PKD1L1-related condition
OMIM ClinVar
PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:30791085 PMID:31026592 PMID:32111882 PMID:33655537 PMID:34008892 PMID:35691949 PMID:38247840 More...
NCBI chrNW_004624740:5,619,253...5,703,032
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Mns1
meiosis specific nuclear structural 1
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215
NCBI chrNW_004624781:15,292,047...15,337,466
Ensembl chrNW_004624781:15,291,416...15,328,173
G
Tex9
testis expressed 9
ISO
ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition
ClinVar
PMID:25741868 PMID:28492532 PMID:30148830 PMID:31534215
NCBI chrNW_004624781:15,351,709...15,380,461
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Aicda
activation induced cytidine deaminase
ISO
RGD
PMID:31001826
RGD:32716386
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chrNW_004624730:74,768,668...74,769,749
Ensembl chrNW_004624730:74,768,668...74,769,798
G
Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
G
Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8035028 PMID:17404324
RGD:10449527
NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
G
Cxcl8
C-X-C motif chemokine ligand 8
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:g.-251A>T (human)
CTD RGD
PMID:22461696 PMID:25821028 PMID:32984951
RGD:150523789 RGD:150523791
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
G
Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:1901333 PMID:3104456 PMID:7854095 PMID:27999013
RGD:40890273 RGD:8158041
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chrNW_004624784:13,386,793...13,399,871
Ensembl chrNW_004624784:13,386,965...13,403,014
G
Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Il27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
G
Il2rb
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chrNW_004624752:10,662,053...10,682,891
Ensembl chrNW_004624752:10,672,432...10,683,045
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Irf5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:30067973 PMID:32038622
RGD:40924560 RGD:40924629
NCBI chrNW_004624783:7,267,680...7,275,918
Ensembl chrNW_004624783:7,260,005...7,274,433
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Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 RGD:8548789
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
G
Ltb
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chrNW_004624754:24,618,888...24,620,448
G
Mbl2
mannose binding lectin 2
disease_progression susceptibility
ISO
DNA:polymorphism:promoter: protein:increased expression:serum: DNA:SNPs,haplotype:promoter,exon:
RGD
PMID:17357060 PMID:22995279 PMID:26297290
RGD:11522692 RGD:8693721 RGD:8693726
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
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Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
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Tlr2
toll like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tnf
tumor necrosis factor
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms
CTD RGD
PMID:1901333 PMID:12438370 PMID:15579454 PMID:22461696
RGD:8548784 RGD:8548789
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Leukemia, acute, X-linked
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 PMID:21680795 More...
NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Btk
Bruton tyrosine kinase
ameliorates
ISO
human gene in a mouse model Human gene in mouse model ClinVar Annotator: match by term: X-linked agammaglobulinemia
OMIM RGD ClinVar
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_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
OMIM:300310 | OMIM:300755
MouseDO
NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610
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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_004624902:1,216,991...1,223,426
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: Hypogammaglobulinemia, X-linked
ClinVar
PMID:8758136
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
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_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452
G
LOC101715696
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_004624836:3,063,775...3,069,063
G
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_004624836:3,076,940...3,144,004
Ensembl chrNW_004624836:3,077,425...3,144,004
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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_004624836:2,657,320...2,676,124
Ensembl chrNW_004624836:2,653,474...2,676,766
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_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577
G
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_004624797:3,120,123...3,142,564
Ensembl chrNW_004624797:3,120,123...3,142,564
G
Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked
ClinVar
PMID:25741868
NCBI chrNW_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
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_004624797:1,775,105...2,167,651
Ensembl chrNW_004624797:1,775,071...2,169,286
G
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_004624797:3,120,123...3,142,564
Ensembl chrNW_004624797:3,120,123...3,142,564
G
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_004624797:2,659,785...2,794,168
Ensembl chrNW_004624797:2,719,508...2,794,379
G
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_004624797:2,299,694...2,411,269
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