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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:autoimmune disease
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Accession:DOID:417 term browser browse the term
Definition:An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. (DO)
Synonyms:exact_synonym: autoimmune diseases;   autoimmune hypersensitivity disease;   hypersensitivity reaction type II disease
 narrow_synonym: SIAE-RELATED CONDITION
 related_synonym: AIS6;   Autoimmune Disease, Susceptibility To, 6;   autoimmune disease 6
 primary_id: MESH:D001327
 alt_id: OMIM:109100;   OMIM:613551
 xref: EFO:0005140;   EFO:0005809;   ICD9CM:720
For additional species annotation, visit the Alliance of Genome Resources.


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autoimmune disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak AHNAK nucleoprotein ISO RGD PMID:11866458 RGD:625427 NCBI chrNW_004936581:702,579...792,762 JBrowse link
G Aicda activation induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21305519 NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601
JBrowse link
G B2m beta-2-microglobulin ISO CTD Direct Evidence: therapeutic
associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine
CTD
RGD
PMID:17214095 PMID:21793797 RGD:6482731 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778
JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chrNW_004936611:2,074,655...2,101,846
Ensembl chrNW_004936611:2,078,716...2,101,881
JBrowse link
G Casp8 caspase 8 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:17880769 RGD:2311245 NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
JBrowse link
G Cd200 CD200 molecule ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chrNW_004936536:8,337...33,954
Ensembl chrNW_004936536:8,262...35,197
JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494542 PMID:19077085 NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407
JBrowse link
G Cd40lg CD40 ligand ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11535630 PMID:15494542 PMID:21414847 RGD:5490595 RGD:8547751 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
JBrowse link
G Cenpa centromere protein A ISO RGD PMID:10759786 RGD:36947376 NCBI chrNW_004936493:5,715,274...5,720,816
Ensembl chrNW_004936493:5,714,782...5,720,837
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
JBrowse link
G Copa COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chrNW_004936740:301,928...347,323
Ensembl chrNW_004936740:301,853...346,746
JBrowse link
G Cryaa crystallin alpha A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chrNW_004936500:931,804...935,185
Ensembl chrNW_004936500:931,754...935,296
JBrowse link
G Crybb2 crystallin beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chrNW_004936657:326,888...336,474
Ensembl chrNW_004936657:326,882...336,556
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12517959 NCBI chrNW_004936762:66,636...69,694
Ensembl chrNW_004936762:66,636...69,373
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO RGD PMID:23444399 RGD:9588650 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:11886462 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:2545777 PMID:22536412 PMID:26590112 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Fbl fibrillarin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8738957 PMID:9693280 PMID:19077085 NCBI chrNW_004936661:2,444,985...2,455,423
Ensembl chrNW_004936661:2,444,866...2,455,528
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10848805 PMID:18390752 RGD:7240525 NCBI chrNW_004937131:80,014...96,114 JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO DNA:missense mutation:cds:p.E160D RGD PMID:17589521 RGD:6484213 NCBI chrNW_004936581:1,328,685...1,332,713
Ensembl chrNW_004936581:1,328,685...1,332,728
JBrowse link
G Gpr132 G protein-coupled receptor 132 ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chrNW_004936621:428,332...442,283 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23256773 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551
JBrowse link
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33617879 NCBI chrNW_004936485:18,996,016...19,017,908
Ensembl chrNW_004936485:18,978,412...19,017,908
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23953224 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532
JBrowse link
G Hpx hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641331 NCBI chrNW_004936842:485,515...495,684
Ensembl chrNW_004936842:485,517...494,742
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chrNW_004936531:7,702,186...7,716,428
Ensembl chrNW_004936531:7,702,695...7,716,380
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) RGD PMID:31121195 RGD:14974230 NCBI chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9647229 PMID:19077085 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO RGD PMID:15470078 RGD:5024943 NCBI chrNW_004936713:1,038,985...1,075,770
Ensembl chrNW_004936713:1,038,877...1,075,811
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO RGD PMID:12196288 RGD:5684380 NCBI chrNW_004936492:3,795,940...3,805,822
Ensembl chrNW_004936492:3,795,940...3,805,774
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19077085 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936469:18,581,855...18,650,109
Ensembl chrNW_004936469:18,581,840...18,650,123
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936490:16,440,723...16,444,679
Ensembl chrNW_004936490:16,440,693...16,444,791
JBrowse link
G LOC101976500 haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) RGD PMID:20646002 RGD:5508739 NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982
JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO coeliac disease RGD PMID:16026592 RGD:1601087 NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500
JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:missense mutation:cds:p.R619W (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21341673 PMID:23619366 RGD:7829736 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958
JBrowse link
G Rapsn receptor associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD PMID:9668287 NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181
JBrowse link
G Rbp3 retinol binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20007828 PMID:21850155 NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074
JBrowse link
G Siae sialic acid acetylesterase susceptibility ISO ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 6 | ClinVar Annotator: match by term: SIAE-related condition OMIM
ClinVar
PMID:20555325 PMID:22257840 PMID:23011869 PMID:23308225 PMID:25741868 More... NCBI chrNW_004936743:1,105,461...1,142,028
Ensembl chrNW_004936743:1,109,211...1,142,807
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23993977 NCBI chrNW_004936521:10,296,097...10,316,673
Ensembl chrNW_004936521:10,296,097...10,322,215
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:22867713 RGD:7243973 NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157
JBrowse link
G Tg thyroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chrNW_004936470:16,185,557...16,396,172 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24453940 NCBI chrNW_004936560:5,124,955...5,138,988
Ensembl chrNW_004936560:5,128,843...5,138,345
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21074606 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9766631 NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
G Tpo thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chrNW_004936532:391,181...435,132
Ensembl chrNW_004936532:390,327...429,386
JBrowse link
G Tssk1b testis specific serine kinase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15140057 NCBI chrNW_004936619:3,121,338...3,124,475
Ensembl chrNW_004936619:3,123,157...3,124,266
JBrowse link
acute disseminated encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
JBrowse link
G Nefl neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697
JBrowse link
Acute Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin associated glycoprotein ISO protein:decreased expression:optic nerve RGD PMID:9820787 RGD:9685300 NCBI chrNW_004936570:989,743...1,004,820 JBrowse link
G Zc3h12a zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chrNW_004936474:19,714,145...19,722,512
Ensembl chrNW_004936474:19,714,153...19,722,528
JBrowse link
Addison's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Primary adrenocortical insufficiency ClinVar PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 More... NCBI chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990
JBrowse link
G Ciita class II major histocompatibility complex transactivator ISO DNA:polymorphism:intron:rs8048002T>C
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18593762 RGD:5491177 NCBI chrNW_004936530:9,033,510...9,073,341 JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs12917716C
CTD
RGD
PMID:18593762 RGD:5491177 NCBI chrNW_004936530:9,089,478...9,264,563
Ensembl chrNW_004936530:9,089,476...9,264,592
JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958
JBrowse link
adult-onset Still's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128
JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457
JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936807:1,090,928...1,116,166
Ensembl chrNW_004936807:1,090,882...1,114,770
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,331,610...1,335,058
Ensembl chrNW_004936529:1,332,874...1,334,403
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,289,810...1,298,798
Ensembl chrNW_004936529:1,289,827...1,298,798
JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351
JBrowse link
G Bsn bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,182,872...1,287,794
Ensembl chrNW_004936529:1,182,810...1,280,657
JBrowse link
G Camkv CaM kinase like vesicle associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,466,460...1,479,798
Ensembl chrNW_004936529:1,464,716...1,479,808
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:857,932...862,976
Ensembl chrNW_004936529:859,274...860,656
JBrowse link
G Cdhr4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,399,611...1,406,876
Ensembl chrNW_004936529:1,399,611...1,406,876
JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:934,641...940,858
Ensembl chrNW_004936529:936,848...940,367
JBrowse link
G CUNH3orf84 chromosome unknown C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:872,150...884,123
Ensembl chrNW_004936529:872,837...884,879
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124
JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,779,582...1,801,251
Ensembl chrNW_004936529:1,779,571...1,801,255
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,838,212...1,842,399
Ensembl chrNW_004936529:1,838,676...1,841,188
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,831,639...1,837,314
Ensembl chrNW_004936529:1,831,254...1,837,314
JBrowse link
G Ifrd2 interferon related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,825,107...1,831,112
Ensembl chrNW_004936529:1,823,679...1,830,879
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:905,692...929,896
Ensembl chrNW_004936529:889,423...929,929
JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581
JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,410,244...1,412,023
Ensembl chrNW_004936529:1,410,201...1,412,023
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,338,812...1,396,981
Ensembl chrNW_004936529:1,338,812...1,396,965
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:863,052...872,067
Ensembl chrNW_004936529:863,045...872,289
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:826,178...841,304
Ensembl chrNW_004936529:826,142...841,337
JBrowse link
G LOC101956274 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230
JBrowse link
G Lsmem2 leucine rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,819,848...1,825,472 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,513,796...1,527,121
Ensembl chrNW_004936529:1,513,753...1,527,506
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,298,853...1,306,088
Ensembl chrNW_004936529:1,299,300...1,303,959
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,494,748...1,509,925
Ensembl chrNW_004936529:1,495,059...1,509,901
JBrowse link
G Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,834,308...1,837,248
Ensembl chrNW_004936529:1,834,349...1,837,182
JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389
JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695
JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,054,568...1,059,575
Ensembl chrNW_004936529:1,052,090...1,059,617
JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795
JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935
JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861
JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,639,919...1,672,143
Ensembl chrNW_004936529:1,639,880...1,672,282
JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,534,816...1,635,012
Ensembl chrNW_004936529:1,534,657...1,635,071
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681
JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 PMID:25741914 NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,306,849...1,336,032
Ensembl chrNW_004936529:1,306,968...1,336,032
JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,806,535...1,818,352
Ensembl chrNW_004936529:1,802,982...1,818,736
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,704,523...1,733,465
Ensembl chrNW_004936529:1,704,476...1,733,941
JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991
JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293
JBrowse link
G Slc38a3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,749,919...1,765,885
Ensembl chrNW_004936529:1,749,853...1,768,476
JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,045,735...1,047,922
Ensembl chrNW_004936529:1,045,798...1,050,384
JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958
JBrowse link
G Traip TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,434,629...1,466,382 JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 OMIM
ClinVar
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
JBrowse link
G Uba7 ubiquitin like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:1,412,196...1,421,216
Ensembl chrNW_004936529:1,412,194...1,421,197
JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:347,411...348,040 JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:814,649...826,008
Ensembl chrNW_004936529:813,951...826,014
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:941,042...989,781
Ensembl chrNW_004936529:938,501...989,884
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004936565:3,791,305...3,839,991
Ensembl chrNW_004936565:3,791,329...3,840,016
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,033,854...3,046,364
Ensembl chrNW_004936599:3,029,202...3,046,385
JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,146,162...2,149,527
Ensembl chrNW_004936599:2,145,865...2,149,576
JBrowse link
G Aip aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,274,451...2,280,486
Ensembl chrNW_004936599:2,274,448...2,280,504
JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,086,874...2,101,173
Ensembl chrNW_004936599:2,085,736...2,101,302
JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,423,095...2,434,534
Ensembl chrNW_004936599:2,423,048...2,434,897
JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:647,230...726,371
Ensembl chrNW_004936599:648,659...719,310
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,750,553...3,753,601
Ensembl chrNW_004936599:3,750,512...3,754,291
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719
JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,553,190...3,555,167
Ensembl chrNW_004936599:3,553,193...3,555,162
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299
JBrowse link
G Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,259,868...3,267,172
Ensembl chrNW_004936599:3,259,835...3,267,676
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,246,139...2,250,963
Ensembl chrNW_004936599:2,246,177...2,250,865
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,178,963...4,201,037
Ensembl chrNW_004936599:4,178,901...4,201,052
JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,322,797...2,331,604
Ensembl chrNW_004936599:2,322,815...2,331,599
JBrowse link
G Catsper1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,529,621...3,538,291 JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,649,372...3,650,408
Ensembl chrNW_004936599:3,649,613...3,650,221
JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,005,067...3,008,053 JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 Ensembl chrNW_004936599:973,838...983,316 JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,992,740...3,005,230
Ensembl chrNW_004936599:2,988,025...3,005,599
JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,284,695...3,287,022 JBrowse link
G Cdk2ap2 cyclin dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,257,731...2,259,883
Ensembl chrNW_004936599:2,257,671...2,259,886
JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307
JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,031,953...2,068,423
Ensembl chrNW_004936599:2,001,673...2,067,399
JBrowse link
G Clcf1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939
JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,310,873...3,316,575
Ensembl chrNW_004936599:3,310,872...3,316,573
JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,307,974...2,312,487
Ensembl chrNW_004936599:2,307,761...2,312,938
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,491,934...1,535,101
Ensembl chrNW_004936599:1,482,172...1,535,119
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,026,837...3,033,735
Ensembl chrNW_004936599:3,029,327...3,033,272
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,657,255...3,661,007
Ensembl chrNW_004936599:3,657,453...3,660,922
JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,869,034...1,879,011 JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,624,401...3,626,237
Ensembl chrNW_004936599:3,624,428...3,626,237
JBrowse link
G CUNH11orf86 chromosome unknown C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,664,951...2,665,843
Ensembl chrNW_004936599:2,664,951...2,665,843
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,063,030...4,078,159
Ensembl chrNW_004936599:4,062,764...4,078,228
JBrowse link
G Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,076,909...3,098,012
Ensembl chrNW_004936599:3,076,909...3,097,785
JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,621,549...3,622,824
Ensembl chrNW_004936599:3,621,423...3,622,874
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047
JBrowse link
G Ehbp1l1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,867,185...3,882,712
Ensembl chrNW_004936599:3,867,005...3,882,732
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,555,273...3,558,443
Ensembl chrNW_004936599:3,555,273...3,562,842
JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:923,943...932,428
Ensembl chrNW_004936599:923,943...932,321
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464
JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:894,091...895,676 JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,652,889...3,657,171
Ensembl chrNW_004936599:3,652,839...3,660,645
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,642,504...3,649,294
Ensembl chrNW_004936599:3,642,504...3,648,417
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,019,651...4,033,352
Ensembl chrNW_004936599:4,014,355...4,032,866
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,563,270...1,567,618
Ensembl chrNW_004936599:1,563,270...1,566,158
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,498,011...3,512,550
Ensembl chrNW_004936599:3,498,005...3,504,901
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,301,232...2,303,547
Ensembl chrNW_004936599:2,300,120...2,302,731
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,406,815...1,439,764
Ensembl chrNW_004936599:1,406,802...1,439,774
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,767,526...3,775,416
Ensembl chrNW_004936599:3,766,242...3,776,128
JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,864,110...3,866,998
Ensembl chrNW_004936599:3,864,097...3,866,994
JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,466,427...2,576,623
Ensembl chrNW_004936599:2,466,214...2,576,623
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,325,013...3,334,366
Ensembl chrNW_004936599:3,325,015...3,334,434
JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,928,172...1,983,983
Ensembl chrNW_004936599:1,928,145...1,984,008
JBrowse link
G LOC110596870 RNA-binding protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,968,178...2,984,033
Ensembl chrNW_004936599:2,975,350...2,984,060
JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,781,439...2,784,627
Ensembl chrNW_004936599:2,780,745...2,784,627
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471
JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:961,060...965,274
Ensembl chrNW_004936599:961,113...965,274
JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,847,637...3,862,895
Ensembl chrNW_004936599:3,848,334...3,863,005
JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,384,216...1,385,296 JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,361,858...1,369,277
Ensembl chrNW_004936599:1,361,823...1,369,300
JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,134,791...3,136,470
Ensembl chrNW_004936599:3,134,607...3,137,448
JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,440,207...1,448,424
Ensembl chrNW_004936599:1,440,156...1,448,472
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,169,434...2,173,090
Ensembl chrNW_004936599:2,167,173...2,173,227
JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,144,829...3,150,307
Ensembl chrNW_004936599:3,144,793...3,150,377
JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,159,654...2,161,657 JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,732,335...3,742,749
Ensembl chrNW_004936599:3,731,083...3,742,770
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,345,242...3,379,634
Ensembl chrNW_004936599:3,344,037...3,379,671
JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,677,770...2,793,033
Ensembl chrNW_004936599:2,677,583...2,793,197
JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,825,376...3,847,592
Ensembl chrNW_004936599:3,825,376...3,847,283
JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,099,256...3,110,566
Ensembl chrNW_004936599:3,099,256...3,110,565
JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,262,210...2,273,933
Ensembl chrNW_004936599:2,262,204...2,276,203
JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,105,365...4,132,079
Ensembl chrNW_004936599:4,105,301...4,132,054
JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,383,919...2,385,705
Ensembl chrNW_004936599:2,383,792...2,386,537
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,345,982...2,348,494
Ensembl chrNW_004936599:2,344,552...2,348,494
JBrowse link
G Ppp6r3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,603,700...1,739,224
Ensembl chrNW_004936599:1,602,430...1,697,221
JBrowse link
G Ptprcap protein tyrosine phosphatase receptor type C associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,312,570...2,315,053
Ensembl chrNW_004936599:2,312,896...2,315,028
JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,317,258...3,324,208
Ensembl chrNW_004936599:3,317,258...3,324,213
JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,348,869...2,353,907
Ensembl chrNW_004936599:2,345,646...2,354,029
JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,934,951...2,945,753
Ensembl chrNW_004936599:2,935,397...2,945,345
JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,794,947...2,798,121
Ensembl chrNW_004936599:2,793,215...2,798,707
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,603,800...2,611,686
Ensembl chrNW_004936599:2,603,636...2,611,692
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,267,223...3,274,359
Ensembl chrNW_004936599:3,268,122...3,272,444
JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004936599:3,766,330...3,767,453
Ensembl chrNW_004936599:3,766,242...3,767,345
JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,315,146...2,321,127
Ensembl chrNW_004936599:2,315,146...2,321,152
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,577,552...3,588,825
Ensembl chrNW_004936599:3,577,480...3,588,706
JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,918,325...3,928,415
Ensembl chrNW_004936599:3,918,469...3,928,421
JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,477,882...3,494,366
Ensembl chrNW_004936599:3,477,589...3,494,354
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,813,350...3,825,319
Ensembl chrNW_004936599:3,813,596...3,822,170
JBrowse link
G Slc25a45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,038,080...4,043,268
Ensembl chrNW_004936599:4,037,880...4,043,266
JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,210,463...3,221,012
Ensembl chrNW_004936599:3,211,939...3,223,348
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,890,404...2,928,502
Ensembl chrNW_004936599:2,890,817...2,928,499
JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,414,128...2,422,183
Ensembl chrNW_004936599:2,414,090...2,422,361
JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,617,083...2,637,355
Ensembl chrNW_004936599:2,615,075...2,637,422
JBrowse link
G Tbc1d10c TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,338,131...2,344,134
Ensembl chrNW_004936599:2,338,752...2,344,134
JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,152,281...2,158,332
Ensembl chrNW_004936599:2,152,272...2,158,332
JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206
JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,537,307...1,560,971
Ensembl chrNW_004936599:1,537,307...1,560,960
JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:4,058,345...4,061,157
Ensembl chrNW_004936599:4,058,692...4,060,107
JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,288,840...2,293,390
Ensembl chrNW_004936599:2,288,838...2,293,367
JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,298,799...3,303,912
Ensembl chrNW_004936599:3,297,694...3,303,938
JBrowse link
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,798,185...2,875,995
Ensembl chrNW_004936599:2,798,340...2,876,370
JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:1,301,937...1,343,046
Ensembl chrNW_004936599:1,318,169...1,343,106
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,589,017...3,600,067 JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:2,109,292...2,146,006
Ensembl chrNW_004936599:2,109,292...2,117,143
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,305,946...3,310,498
Ensembl chrNW_004936599:3,305,925...3,310,836
JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498
JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004936599:3,886,898...3,888,642
Ensembl chrNW_004936599:3,886,892...3,888,866
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,943,673...1,945,994
Ensembl chrNW_004936659:1,941,372...1,946,087
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758
JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003
JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,919,191...1,943,440
Ensembl chrNW_004936659:1,918,420...1,946,087
JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chrNW_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457
JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,907,933...1,911,690
Ensembl chrNW_004936659:1,907,936...1,911,994
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,962,055...1,978,743
Ensembl chrNW_004936659:1,961,243...1,978,743
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,735,449...3,746,028
Ensembl chrNW_004936561:3,732,134...3,746,028
JBrowse link
G Ctnnbl1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,434,232...3,589,341
Ensembl chrNW_004936561:3,434,731...3,589,341
JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,946,256...3,954,472
Ensembl chrNW_004936561:3,950,340...3,952,405
JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,898,666...3,915,215
Ensembl chrNW_004936561:3,914,033...3,915,138
JBrowse link
G Mroh8 maestro heat like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:4,020,258...4,083,045
Ensembl chrNW_004936561:4,020,333...4,079,808
JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,739,664...3,744,015
Ensembl chrNW_004936561:3,739,664...3,742,154
JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:4,108,393...4,157,993
Ensembl chrNW_004936561:4,107,861...4,157,647
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,960,979...4,020,792
Ensembl chrNW_004936561:3,960,818...4,021,369
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004936561:4,180,607...4,238,623
Ensembl chrNW_004936561:4,180,546...4,229,036
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936561:4,229,945...4,241,425
Ensembl chrNW_004936561:4,230,257...4,241,425
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar
PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903
JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar
PMID:33230297 NCBI chrNW_004936515:5,448,490...5,459,295 JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chrNW_004936709:884,741...886,617
Ensembl chrNW_004936709:884,741...886,895
JBrowse link
alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO OMIM:104000 | OMIM:610753 MouseDO NCBI chrNW_004936837:809,958...821,604
Ensembl chrNW_004936837:809,921...821,608
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:3'UTR:rs3087243(human)
CTD
RGD
PMID:20596022 PMID:23567921 RGD:7411701 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chrNW_004936762:66,636...69,694
Ensembl chrNW_004936762:66,636...69,373
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936727:1,648,451...1,663,294
Ensembl chrNW_004936727:1,648,448...1,663,455
JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860
JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936512:5,680,564...5,701,182
Ensembl chrNW_004936512:5,682,490...5,697,869
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936646:417,565...449,021
Ensembl chrNW_004936646:429,833...449,021
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8077705 RGD:6909137 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449 RGD:8663450 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332
JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936474:8,262,913...8,319,089
Ensembl chrNW_004936474:8,262,885...8,319,092
JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936474:25,002,527...25,056,642
Ensembl chrNW_004936474:25,002,509...25,056,642
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936588:2,908,970...3,005,625
Ensembl chrNW_004936588:2,908,899...3,005,674
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936539:1,198,105...1,580,078
Ensembl chrNW_004936539:1,198,147...1,580,082
JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936599:4,894,409...4,897,426
Ensembl chrNW_004936599:4,894,409...4,897,223
JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 severity ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16829308 RGD:6484734 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958
JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936524:8,324,562...8,381,244
Ensembl chrNW_004936524:8,324,569...8,376,114
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354
JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
OMIM
ClinVar
RGD
PMID:632821 PMID:1539879 PMID:1582434 PMID:1858914 PMID:2067633 More... RGD:15039298 NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chrNW_004936588:209,720...221,847
Ensembl chrNW_004936588:209,610...221,905
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:21447491 PMID:25429852 PMID:28492532 NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072
JBrowse link
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity OMIM
ClinVar
PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 More... NCBI chrNW_004936533:1,817,135...1,827,393
Ensembl chrNW_004936533:1,817,135...1,827,393
JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
JBrowse link
G Ano6 anoctamin 6 severity ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs17095830(human)
CTD
RGD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chrNW_004936512:3,649,103...3,736,274
Ensembl chrNW_004936512:3,540,129...3,732,776
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chrNW_004936749:1,936,307...2,014,452
Ensembl chrNW_004936749:1,936,449...2,015,200
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499
JBrowse link
G Card9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936669:1,428,208...1,438,012
Ensembl chrNW_004936669:1,429,594...1,438,005
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chrNW_004936523:6,661,119...6,686,988
Ensembl chrNW_004936523:6,661,315...6,690,425
JBrowse link
G Erap2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chrNW_004936523:6,545,281...6,584,403
Ensembl chrNW_004936523:6,544,207...6,584,452
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chrNW_004936713:679,680...716,801
Ensembl chrNW_004936713:701,155...716,650
JBrowse link
G Il23r interleukin 23 receptor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
DNA:SNPs,haplotype:multiple:
CTD
RGD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867
JBrowse link
G Kdm5a lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739
JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101968921 angiotensin-converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 RGD:6483530 NCBI chrNW_004936518:1,903,636...1,916,746
Ensembl chrNW_004936518:1,903,725...1,916,746
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004936476:25,899,514...25,907,690
Ensembl chrNW_004936476:25,899,339...25,907,695
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936490:13,579,523...13,596,325
Ensembl chrNW_004936490:13,580,915...13,594,582
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
JBrowse link
G Tlr5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004936526:383,490...387,007
Ensembl chrNW_004936526:383,418...401,552
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chrNW_004936489:5,425,778...5,434,483
Ensembl chrNW_004936489:5,425,726...5,434,785
JBrowse link
anti-basement membrane glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma
RGD PMID:7550093 PMID:21282555 RGD:11039051 RGD:5129185 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chrNW_004936519:6,831,096...6,873,977
Ensembl chrNW_004936519:6,831,096...6,873,985
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820
JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chrNW_004936475:9,475,013...9,476,326
Ensembl chrNW_004936475:9,474,961...9,476,398
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chrNW_004936475:9,432,505...9,436,240
Ensembl chrNW_004936475:9,432,505...9,436,240
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
JBrowse link
G Cd274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cfb complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215
JBrowse link
G Clu clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836
JBrowse link
G Csf1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chrNW_004936704:1,372,137...1,393,355
Ensembl chrNW_004936704:1,378,103...1,393,542
JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment
ameliorates
ISO RGD PMID:19242505 PMID:21519331 RGD:151665824 RGD:7257569 NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086 PMID:10712436 RGD:11352257 RGD:6902936 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chrNW_004936473:28,508,726...28,535,640
Ensembl chrNW_004936473:28,510,523...28,535,627
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chrNW_004936617:4,224,131...4,239,080
Ensembl chrNW_004936617:4,224,131...4,238,796
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408
JBrowse link
G Gp6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chrNW_004936886:295,950...310,614 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
JBrowse link
G Il1b interleukin 1 beta ISO mRNA, protein:increased expression:kidney
mRNA:increased expression:kidney (mouse)
RGD PMID:9198037 PMID:22046355 RGD:6893447 RGD:7401232 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340
JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412 PMID:9032136 RGD:2308810 RGD:9698425 NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252
JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A no_association ISO DNA:polymorphism:exon:(rs396991)(human)
DNA:cnv: :
RGD PMID:19640933 PMID:19946017 RGD:5508400 RGD:5508403 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain ISO RGD PMID:21569485 RGD:5147561 NCBI chrNW_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145
JBrowse link
G LOC101970885 lymphotactin ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chrNW_004936481:17,825,714...17,828,955 JBrowse link
G Mapk14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936476:23,237,762...23,310,211
Ensembl chrNW_004936476:23,237,277...23,310,232
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936728:1,775,746...1,893,895
Ensembl chrNW_004936728:1,775,641...1,893,907
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936551:5,107,567...5,117,843
Ensembl chrNW_004936551:5,106,285...5,117,843
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611
JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
JBrowse link
G Nppb natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665
JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chrNW_004936629:3,672,445...3,725,645
Ensembl chrNW_004936629:3,672,460...3,725,626
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chrNW_004936675:216,970...325,670
Ensembl chrNW_004936675:275,288...324,810
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chrNW_004936487:18,305,537...18,411,170
Ensembl chrNW_004936487:18,305,488...18,410,952
JBrowse link
G Selp selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936481:17,076,660...17,112,501
Ensembl chrNW_004936481:17,076,536...17,107,963
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO protein:decreased expression:kidney, brush border membrane (mouse) RGD PMID:19193726 RGD:7242947 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chrNW_004936477:8,111,212...8,448,567
Ensembl chrNW_004936477:8,109,228...8,446,653
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079
JBrowse link
G Syk spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936780:1,553,605...1,601,036
Ensembl chrNW_004936780:1,553,605...1,598,158
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048
JBrowse link
Anti-N-Methyl-D-Aspartate Receptor Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chrNW_004936657:3,443,406...3,453,096
Ensembl chrNW_004936657:3,443,485...3,453,133
JBrowse link
G Nefl neurofilament light chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697
JBrowse link
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 ISO protein:increased expression:serum: RGD PMID:23087180 RGD:11039411 NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human) RGD PMID:19815671 RGD:7204687 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:23873874 RGD:11340221 NCBI chrNW_004936537:4,637,028...4,647,915
Ensembl chrNW_004936537:4,636,667...4,647,916
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:12148596 RGD:8662455 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Itgam integrin subunit alpha M ISO associated with crescentic glomerulonephritis;protein:increased expression:monocyte (human) RGD PMID:18846416 RGD:7241813 NCBI chrNW_004936543:8,460,526...8,508,524
Ensembl chrNW_004936543:8,461,307...8,508,524
JBrowse link
G Ltf lactotransferrin ISO RGD PMID:23201854 RGD:7243106 NCBI chrNW_004936596:344,287...373,788
Ensembl chrNW_004936596:344,274...373,952
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Mpo myeloperoxidase disease_progression ISO RGD PMID:23085883 RGD:7174703 NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070
JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 susceptibility ISO DNA:snp:cds:c.1858C>T (rs2476601) (human) RGD PMID:22880107 RGD:11533997 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958
JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:21190299 RGD:7240543 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
JBrowse link
G Tnf tumor necrosis factor severity ISO protein:increased expression:serum RGD PMID:19690440 RGD:7245518 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
JBrowse link
antiphospholipid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chrNW_004936541:6,683,483...6,695,094
Ensembl chrNW_004936541:6,683,534...6,695,066
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
JBrowse link
G Cd4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:16188945 RGD:11344980 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
JBrowse link
G Crp C-reactive protein ISO RGD PMID:17014014 RGD:6907402 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:16320350 RGD:1580877 NCBI chrNW_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182703 NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743
JBrowse link
G Ppbp pro-platelet basic protein ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chrNW_004936598:1,719,501...1,720,890
Ensembl chrNW_004936598:1,719,480...1,720,911
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:18550579 PMID:25741868 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
JBrowse link
autoimmune disease of gastrointestinal tract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfat5 nuclear factor of activated T cells 5 ISO ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy ClinVar PMID:28492532 NCBI chrNW_004936475:19,658,917...19,758,936
Ensembl chrNW_004936475:19,660,201...19,758,930
JBrowse link
autoimmune disease of the nervous system term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoc aldolase, fructose-bisphosphate C ISO associated with Streptococcal Infections RGD PMID:16356555 RGD:2301134 NCBI chrNW_004936538:4,798,991...4,802,700
Ensembl chrNW_004936538:4,798,989...4,802,994
JBrowse link
G Anxa5 annexin A5 ISO RGD PMID:15486486 RGD:10053691 NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chrNW_004936473:18,825,969...18,833,179
Ensembl chrNW_004936473:18,825,942...18,833,179
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chrNW_004936542:4,235,914...4,244,981
Ensembl chrNW_004936542:4,237,010...4,244,462
JBrowse link
autoimmune gastritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp4b ATPase H+/K+ transporting subunit beta ISO RGD PMID:7517707 PMID:8393475 RGD:14696740 RGD:14696746 NCBI chrNW_004936472:168,745...173,996
Ensembl chrNW_004936472:168,750...173,968
JBrowse link
autoimmune glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgl2 fibrinogen like 2 ISO MouseDO NCBI chrNW_004936479:20,619,955...20,625,416
Ensembl chrNW_004936479:20,619,931...20,652,981
JBrowse link
autoimmune hemolytic anemia term browser
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:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chrNW_004936517:1,015,069...1,039,474
Ensembl chrNW_004936517:1,015,036...1,039,529
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chrNW_004936530:9,312,965...9,315,593
Ensembl chrNW_004936530:9,312,965...9,316,165
JBrowse link
G Tlr8 toll like receptor 8 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:25741868 PMID:33512449 PMID:34981838 NCBI chrNW_004936470:2,638,020...2,642,201
Ensembl chrNW_004936470:2,638,014...2,641,133
JBrowse link
autoimmune hepatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:19301087 RGD:5686833 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16115720 NCBI chrNW_004936524:9,584,302...9,592,961
Ensembl chrNW_004936524:9,584,140...9,596,276
JBrowse link
G C1s complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chrNW_004936709:731,211...742,583
Ensembl chrNW_004936709:731,165...742,686
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chrNW_004936539:132,870...145,288
Ensembl chrNW_004936539:132,868...143,602
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human) RGD PMID:30320190 RGD:14398726 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chrNW_004936694:704,948...715,846
Ensembl chrNW_004936694:704,692...710,501
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO RGD PMID:20821236 PMID:21711423 RGD:5147750 RGD:5147775 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
JBrowse link
G Fas Fas cell surface death receptor treatment ISO protein:increased expression:lymphocyte: RGD PMID:26429926 PMID:28551553 RGD:14700710 RGD:14700711 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:28551553 RGD:14700710 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO human gene in a mouse model RGD PMID:9195373 RGD:14694814 NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
JBrowse link
G Il13 interleukin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
JBrowse link
G Il2 interleukin 2 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21227906 PMID:29233784 PMID:29323192 RGD:14747037 RGD:14747042 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625
JBrowse link
G Il21 interleukin 21 exacerbates ISO protein:increased expression:blood serum, peripheral blood mononuclear cell (human) RGD PMID:27386263 RGD:127285554 NCBI chrNW_004936662:1,689,879...1,696,883
Ensembl chrNW_004936662:1,689,879...1,696,883
JBrowse link
G Il22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936545:6,227,118...6,231,745
Ensembl chrNW_004936545:6,227,118...6,231,745
JBrowse link
G Il5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936597:2,983,953...2,986,975
Ensembl chrNW_004936597:2,983,953...2,986,975
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334
JBrowse link
G LOC101961588 cytochrome P450 2D17 ISO protein:increased expression:serum: RGD PMID:3186722 PMID:10435724 RGD:11353781 RGD:7207226 NCBI chrNW_004936718:153,340...157,966 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:SNP, polymorphism:3' utr, :g.33087030G>A, HLA-DPB1*04:05 (rs9277534) (human) RGD PMID:30093645 RGD:150429797 NCBI chrNW_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:19781375 PMID:23869988 RGD:40818236 RGD:41412171 NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
JBrowse link
G Pdcd1lg2 programmed cell death 1 ligand 2 ISO RGD PMID:19781375 RGD:41412171 NCBI chrNW_004936539:190,583...229,936
Ensembl chrNW_004936539:190,637...234,873
JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO RGD PMID:20208391 RGD:9999172 NCBI chrNW_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) RGD PMID:23990947 PMID:28977835 RGD:25671418 RGD:25671419 NCBI chrNW_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:polymorphism: : RGD PMID:15683428 RGD:14402024 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chrNW_004936475:21,005,242...21,235,992
Ensembl chrNW_004936475:21,080,302...21,231,544
JBrowse link
Autoimmune Hypothyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
autoimmune interstitial lung, joint, and kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,295,299...1,298,441
Ensembl chrNW_004936740:1,295,319...1,296,812
JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:490,718...500,443
Ensembl chrNW_004936903:491,139...500,443
JBrowse link
G Aim2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,447,869...1,460,836
Ensembl chrNW_004936740:1,451,001...1,460,836
JBrowse link
G Apcs amyloid P component, serum ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:979,007...987,312
Ensembl chrNW_004936740:986,460...987,361
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:520,420...521,726
Ensembl chrNW_004936903:520,650...521,910
JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:361,076...379,595 JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:170,649...183,942 JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308
JBrowse link
G B4galt3 beta-1,4-galactosyltransferase 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:474,789...481,342 JBrowse link
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,298,512...1,331,376
Ensembl chrNW_004936740:1,299,043...1,331,453
JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:430,367...442,468
Ensembl chrNW_004936740:430,026...442,539
JBrowse link
G Cd244 CD244 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:146,108...162,410 JBrowse link
G Cd48 CD48 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:7,662...24,010
Ensembl chrNW_004936740:7,633...24,236
JBrowse link
G Cd84 CD84 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:111,296...133,847
Ensembl chrNW_004936740:123,885...134,097
JBrowse link
G Cfap126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:638,391...642,241 JBrowse link
G Cfap45 cilia and flagella associated protein 45 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:710,076...738,766
Ensembl chrNW_004936740:710,076...738,701
JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 More... NCBI chrNW_004936740:301,928...347,323
Ensembl chrNW_004936740:301,853...346,746
JBrowse link
G Crp C-reactive protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:368,795...415,997
Ensembl chrNW_004936740:387,469...413,961
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139
JBrowse link
G Dedd death effector domain containing ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:436,949...448,670
Ensembl chrNW_004936903:435,447...448,025
JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:156,175...163,392
Ensembl chrNW_004937131:156,201...163,153
JBrowse link
G Dusp23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004943943:31...1,797 JBrowse link
G F11r F11 receptor ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:317,975...338,892
Ensembl chrNW_004936903:315,716...338,932
JBrowse link
G Fcer1a Fc fragment of IgE receptor Ia ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,201,370...1,206,871 JBrowse link
G Fcer1g Fc fragment of IgE receptor Ig ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:514,278...517,975
Ensembl chrNW_004936903:514,761...517,948
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:80,014...96,114 JBrowse link
G Fcrl6 Fc receptor like 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:794,680...809,560 JBrowse link
G Fcrla Fc receptor like A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:108,524...116,330
Ensembl chrNW_004937131:108,524...116,330
JBrowse link
G Fcrlb Fc receptor like B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:128,256...132,577
Ensembl chrNW_004937131:128,260...132,589
JBrowse link
G Hspa6 heat shock protein family A (Hsp70) member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:25,603...28,458
Ensembl chrNW_004937131:25,551...28,457
JBrowse link
G Igsf8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:528,826...535,776
Ensembl chrNW_004936740:528,821...535,776
JBrowse link
G Igsf9 immunoglobulin superfamily member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:669,101...688,124
Ensembl chrNW_004936740:670,306...688,154
JBrowse link
G Itln1 intelectin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:191,836...199,448 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353
JBrowse link
G Kcnj9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:536,397...545,137
Ensembl chrNW_004936740:538,688...545,247
JBrowse link
G Klhdc9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:410,408...413,402
Ensembl chrNW_004936903:410,932...415,060
JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101960259 carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:271,604...591,461
Ensembl chrNW_004936831:583,823...588,524
Ensembl chrNW_004936831:583,823...588,524
JBrowse link
G LOC101966280 sodium/potassium-transporting ATPase subunit alpha-4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:445,952...478,580
Ensembl chrNW_004936740:445,952...478,532
JBrowse link
G LOC101970211 olfactory receptor 10J5 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,047,708...1,048,645
Ensembl chrNW_004936740:1,040,510...1,048,637
JBrowse link
G LOC101971086 olfactory receptor 10J3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,196,967...1,197,926
Ensembl chrNW_004936740:1,196,967...1,197,908
JBrowse link
G LOC101972171 olfactory receptor 6N2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,593,667...1,594,620
Ensembl chrNW_004936740:1,593,667...1,594,620
JBrowse link
G LOC101972437 olfactory receptor 6N1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,618,422...1,619,374
Ensembl chrNW_004936740:1,618,436...1,619,374
JBrowse link
G LOC101972731 olfactory receptor 6K6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,628,557...1,629,516
Ensembl chrNW_004936740:1,628,557...1,629,483
JBrowse link
G LOC101973019 olfactory receptor 6K3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,641,900...1,642,847 JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160
JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:503,633...514,235
Ensembl chrNW_004936903:499,300...514,893
JBrowse link
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:381,383...398,339
Ensembl chrNW_004936903:381,424...398,350
JBrowse link
G Nhlh1 nescient helix-loop-helix 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:273,294...278,419
Ensembl chrNW_004936740:274,395...278,419
JBrowse link
G Nit1 nitrilase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:432,585...436,697
Ensembl chrNW_004936903:431,897...439,718
JBrowse link
G Nlrp12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936994:20,848...36,757
Ensembl chrNW_004936994:20,854...36,757
JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:527,838...533,930
Ensembl chrNW_004936903:527,871...533,790
JBrowse link
G Olfml2b olfactomedin like 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:169,866...210,974
Ensembl chrNW_004936831:169,864...211,315
JBrowse link
G Pcp4l1 Purkinje cell protein 4 like 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:544,343...567,357
Ensembl chrNW_004936903:544,348...566,718
JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:416,355...426,801
Ensembl chrNW_004936740:416,355...426,801
JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:351,089...357,657
Ensembl chrNW_004936740:351,045...359,033
JBrowse link
G Pfdn2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:413,604...432,561
Ensembl chrNW_004936903:413,604...432,566
JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis class M ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:595,932...597,964
Ensembl chrNW_004936740:596,072...597,343
JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:470,317...474,705
Ensembl chrNW_004936903:470,344...478,025
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092
JBrowse link
G Sh2d1b SH2 domain containing 1B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:604,308...635,459 JBrowse link
G Slamf1 signaling lymphocytic activation molecule family member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:55,941...92,100
Ensembl chrNW_004936740:55,941...92,100
JBrowse link
G Slamf6 SLAM family member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:155,268...165,536 JBrowse link
G Slamf7 SLAM family member 7 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532
G Slamf8 SLAM family member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:776,557...786,182
Ensembl chrNW_004936740:776,455...786,357
JBrowse link
G Slamf9 SLAM family member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:661,663...665,166
Ensembl chrNW_004936740:661,619...665,186
JBrowse link
G Spata46 spermatogenesis associated 46 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:579,027...582,389
Ensembl chrNW_004936831:579,036...581,979
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078
JBrowse link
G Tagln2 transgelin 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:689,745...697,145
Ensembl chrNW_004936740:689,595...699,763
JBrowse link
G Tomm40l translocase of outer mitochondrial membrane 40 like ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:524,159...528,674
Ensembl chrNW_004936903:524,111...527,765
JBrowse link
G Tstd1 thiosulfate sulfurtransferase like domain containing 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:350,895...352,302
Ensembl chrNW_004936903:350,927...352,461
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:733,072...770,495
Ensembl chrNW_004936831:732,967...771,478
JBrowse link
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:449,042...462,727
Ensembl chrNW_004936903:449,039...462,727
JBrowse link
G Uhmk1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:680,929...701,804
Ensembl chrNW_004936831:680,867...695,328
JBrowse link
G Usf1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:352,569...359,350
Ensembl chrNW_004936903:352,590...359,398
JBrowse link
G Usp21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:462,617...469,592
Ensembl chrNW_004936903:464,353...469,345
JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:228,377...242,318
Ensembl chrNW_004936740:228,317...242,601
JBrowse link
G Vsig8 V-set and immunoglobulin domain containing 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:752,134...756,428
Ensembl chrNW_004936740:748,581...756,424
JBrowse link
autoimmune lymphoproliferative syndrome term browser
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:28492532 More... NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004936735:362,399...396,903
Ensembl chrNW_004936735:362,284...396,918
JBrowse link
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_004936481:14,130,319...14,161,114
Ensembl chrNW_004936481:14,136,920...14,164,198
JBrowse link
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 More... NCBI chrNW_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
JBrowse link
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_004936481:14,052,816...14,063,066
Ensembl chrNW_004936481:14,052,810...14,064,101
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004936601:5,015,922...5,016,942
Ensembl chrNW_004936601:5,015,219...5,160,908
JBrowse link
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_004936481:14,936,108...14,962,504 JBrowse link
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_004936481:14,029,478...14,052,724
Ensembl chrNW_004936481:14,027,772...14,052,806
JBrowse link
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_004936481:14,971,977...15,411,253
Ensembl chrNW_004936481:14,971,947...15,411,288
JBrowse link
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 type 1, autosomal dominant OMIM
ClinVar
PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... NCBI chrNW_004936735:209,369...234,582 JBrowse link
G 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 ClinVar
OMIM
PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Ifit3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004936601:4,914,868...4,919,637
Ensembl chrNW_004936601:4,914,380...4,919,574
JBrowse link
G Klhl20 kelch like family member 20 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004936481:14,074,169...14,111,634
Ensembl chrNW_004936481:14,071,470...14,111,838
JBrowse link
G Lipn lipase family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004936735:445,985...464,340
Ensembl chrNW_004936735:445,985...464,340
JBrowse link
G LOC101956034 lipase member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004936735:399,567...418,264
Ensembl chrNW_004936735:399,584...418,264
JBrowse link
G Mettl13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004936481:15,446,940...15,460,306
Ensembl chrNW_004936481:15,446,809...15,460,306
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004936481:15,544,733...15,556,813
Ensembl chrNW_004936481:15,544,660...15,556,857
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004936481:14,962,572...14,964,929
Ensembl chrNW_004936481:14,962,613...14,964,861
JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004936481:14,223,422...14,233,634
Ensembl chrNW_004936481:14,222,696...14,233,641
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chrNW_004936481:13,919,006...13,973,868
Ensembl chrNW_004936481:13,919,257...13,966,677
JBrowse link
G 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_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634
JBrowse link
G 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_004936481:14,167,249...14,220,860 JBrowse link
G Stambpl1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chrNW_004936735:293,833...337,839
Ensembl chrNW_004936735:293,833...310,539
JBrowse link
G 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_004936481:14,823,622...14,892,312
Ensembl chrNW_004936481:14,823,253...14,892,318
JBrowse link
G 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_004936481:14,499,495...14,508,074
Ensembl chrNW_004936481:14,499,577...14,508,017
JBrowse link
G 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_004936481:14,391,359...14,409,514 JBrowse link
G 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_004936481:15,480,865...15,515,851
Ensembl chrNW_004936481:15,480,879...15,516,945
JBrowse link
G 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_004936481:13,986,826...14,020,854
Ensembl chrNW_004936481:14,009,281...14,021,139
JBrowse link
autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chrNW_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624
JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
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 More... NCBI chrNW_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511
JBrowse link
G 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 More... NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799
JBrowse link
G 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 More... NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541
JBrowse link
G 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 More... NCBI chrNW_004936726:734,269...867,709 JBrowse link
G 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 More... NCBI chrNW_004936726:1,958,561...2,010,972
Ensembl chrNW_004936726:1,922,060...2,010,981
JBrowse link
G 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 More... NCBI chrNW_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624
JBrowse link
G 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 More... NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
JBrowse link
G 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 More... NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407
JBrowse link
G 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 More... NCBI chrNW_004936726:1,037,614...1,129,961
Ensembl chrNW_004936726:1,037,636...1,130,571
JBrowse link
G 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 More... NCBI chrNW_004936726:381,888...425,565
Ensembl chrNW_004936726:381,835...423,311
JBrowse link
G 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 More... NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G 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 More... NCBI chrNW_004936726:1,753,318...1,846,977
Ensembl chrNW_004936726:1,753,652...1,843,405
JBrowse link
G 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