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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 chr 1:11,352,848...11,384,944 JBrowse link
G AICDA activation induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21305519 NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641
JBrowse link
G B2M beta-2-microglobulin ISO associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:17214095 PMID:21793797 RGD:6482731 NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr11:7,106,769...7,115,055
Ensembl chr11:7,139,115...7,148,056
Ensembl chr11:7,139,115...7,148,056
JBrowse link
G CASP8 caspase 8 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:17880769 RGD:2311245 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
JBrowse link
G CD200 CD200 molecule ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chr22:68,429,544...68,459,711
Ensembl chr22:68,426,459...68,459,616
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494542 PMID:19077085 NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387
JBrowse link
G CD40LG CD40 ligand ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11535630 PMID:15494542 PMID:21414847 RGD:5490595 RGD:8547751 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G CENPA centromere protein A ISO RGD PMID:10759786 RGD:36947376 NCBI chr14:80,838,049...80,847,609
Ensembl chr14:80,839,335...80,846,608
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930
JBrowse link
G COPA COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr20:3,605,903...3,658,555
Ensembl chr20:3,606,293...3,659,402
JBrowse link
G CRYBB2 crystallin beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr19:8,318,486...8,331,632
Ensembl chr19:8,321,039...8,331,929
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12517959 NCBI chr  X:61,430,723...61,433,777
Ensembl chr  X:61,430,725...61,433,386
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:23444399 RGD:9588650 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:11886462 NCBI chr  X:129,090,140...129,315,343
Ensembl chr  X:129,088,611...129,312,909
JBrowse link
G FBL fibrillarin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8738957 PMID:9693280 PMID:19077085 NCBI chr 6:34,370,558...34,382,909
Ensembl chr 6:34,370,558...34,376,836
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO DNA:missense mutation:cds:p.E160D RGD PMID:17589521 RGD:6484213 NCBI chr 1:12,057,620...12,062,185 JBrowse link
G GPR132 G protein-coupled receptor 132 ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chr24:82,964,828...82,979,118 JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23256773 NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767
JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33617879 NCBI chr 2:36,441,185...36,490,205
Ensembl chr 2:36,460,495...36,490,190
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23953224 NCBI chr 4:69,664,784...69,690,343
Ensembl chr 4:69,665,417...69,688,686
JBrowse link
G HPX hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641331 NCBI chr 1:58,385,860...58,396,269
Ensembl chr 1:58,386,190...58,396,298
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr23:41,230,675...41,251,177
Ensembl chr23:41,231,364...41,251,150
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 chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9647229 PMID:19077085 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO RGD PMID:15470078 RGD:5024943 NCBI chr14:6,026,683...6,067,808
Ensembl chr14:6,026,443...6,066,884
JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO RGD PMID:12196288 RGD:5684380 NCBI chr19:19,830,919...19,853,534
Ensembl chr19:19,828,898...19,852,988
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7871386 PMID:8898950 PMID:19077085 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19077085 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr10:45,506,355...45,650,979
Ensembl chr10:45,504,987...45,595,543
JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr16:64,714,497...64,719,805
Ensembl chr16:64,714,970...64,719,678
JBrowse link
G LOC103223672 low affinity immunoglobulin gamma Fc region receptor II-b ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10848805 PMID:18390752 RGD:7240525 NCBI chr20:2,398,425...2,413,328 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human) RGD PMID:21744463 RGD:5147554 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
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 chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO coeliac disease RGD PMID:16026592 RGD:1601087 NCBI chr25:3,350,798...3,405,040 JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999
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 chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827
JBrowse link
G RAPSN receptor associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD PMID:9668287 NCBI chr 1:17,867,721...17,887,162
Ensembl chr 1:17,868,888...17,887,164
JBrowse link
G RBP3 retinol binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20007828 PMID:21850155 NCBI chr 9:44,111,494...44,124,352
Ensembl chr 9:44,114,562...44,123,932
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 chr 1:115,782,624...115,822,707
Ensembl chr 1:115,782,964...115,820,284
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23993977 NCBI chr 9:63,463,059...63,497,893
Ensembl chr 9:63,462,389...63,497,867
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:22867713 RGD:7243973 NCBI chr11:53,005,378...53,020,899
Ensembl chr11:53,006,145...53,021,203
JBrowse link
G TG thyroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chr 8:127,293,797...127,567,218
Ensembl chr 8:127,293,834...127,567,771
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24453940 NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21074606 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9766631 NCBI chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313
JBrowse link
G TPO thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chr14:106,148,214...106,255,442
Ensembl chr14:106,146,946...106,255,298
JBrowse link
G TSSK1B testis specific serine kinase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15140057 NCBI chr23:16,721,966...16,724,314
Ensembl chr23:16,722,742...16,723,842
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 chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
JBrowse link
G NEFL neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222
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 chr 6:30,224,873...30,246,277
Ensembl chr 6:30,227,442...30,246,481
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr20:95,388,469...95,398,305
Ensembl chr20:95,388,477...95,397,960
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 chr  X:128,152,697...128,171,007 JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs8048002T>C
CTD
RGD
PMID:18593762 RGD:5491177 NCBI chr 5:10,341,690...10,401,988
Ensembl chr 5:10,372,344...10,400,451
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 chr 5:10,420,866...10,658,370
Ensembl chr 5:10,420,931...10,658,507
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827
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 chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr17:28,377,959...28,394,508 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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972
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 chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363
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 chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733
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 chr 1:8,526,761...8,535,984
Ensembl chr 1:8,526,788...8,528,027
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 chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 2:57,629,205...57,640,736
Ensembl chr 2:57,627,764...57,640,177
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 chr22:9,869,502...9,871,659 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 chr22:11,111,871...11,115,104
Ensembl chr22:11,112,953...11,114,467
JBrowse link
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,813,601...10,820,628
Ensembl chr22:10,814,358...10,819,632
JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,067,966...11,078,258 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
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 chr22:9,849,439...9,869,654
Ensembl chr22:9,849,570...9,869,553
JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,953,901...11,066,892
Ensembl chr22:11,018,966...11,059,701
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 chr22:11,264,349...11,276,616
Ensembl chr22:11,263,584...11,276,543
JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532
G CDHR4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532
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 chr22:10,046,361...10,073,689
Ensembl chr22:10,045,900...10,072,395
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 chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,660,873...10,672,712
Ensembl chr22:10,666,310...10,671,639
JBrowse link
G CUNH3orf84 chromosome unknown C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,579,771...10,594,148
Ensembl chr22:10,579,776...10,593,388
JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200
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 chr22:10,415,833...10,419,492
Ensembl chr22:10,411,353...10,419,770
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,116,497...11,118,980
Ensembl chr22:11,116,752...11,118,926
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 chr22:11,623,394...11,646,464
Ensembl chr22:11,623,408...11,647,191
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 chr22:11,577,192...11,582,789
Ensembl chr22:11,577,997...11,581,223
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,754,976...10,756,617 JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,689,123...11,693,144
Ensembl chr22:11,688,970...11,693,183
JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,680,189...11,688,678
Ensembl chr22:11,679,585...11,682,972
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 chr22:11,675,094...11,679,953
Ensembl chr22:11,675,542...11,679,843
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,593,516...10,653,519 JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,424,646...10,429,917
Ensembl chr22:10,421,996...10,429,662
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 chr22:11,206,066...11,208,653
Ensembl chr22:11,206,914...11,209,867
JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,119,315...11,187,512
Ensembl chr22:11,119,313...11,146,192
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,097,730...10,121,325
Ensembl chr22:10,097,746...10,121,840
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,573,720...10,578,629
Ensembl chr22:10,574,769...10,578,674
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,523,763...10,535,733
Ensembl chr22:10,523,717...10,536,207
JBrowse link
G LOC103227611 ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,318,252...10,319,365 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 chr22:11,666,171...11,675,465 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 chr22:11,315,251...11,334,295
Ensembl chr22:11,315,396...11,333,991
JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,078,662...11,083,885
Ensembl chr22:11,074,114...11,083,368
JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,293,637...11,310,239
Ensembl chr22:11,293,263...11,309,980
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
G NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,083,042...10,095,654
Ensembl chr22:10,081,218...10,095,566
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 chr22:10,421,359...10,423,626
Ensembl chr22:10,421,996...10,423,510
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 chr22:10,821,663...10,825,405
Ensembl chr22:10,820,757...10,825,462
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,387,828...10,407,476
Ensembl chr22:10,388,932...10,407,507
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 chr22:9,920,252...9,962,243
Ensembl chr22:9,919,764...9,957,543
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 chr22:10,153,951...10,251,438
Ensembl chr22:10,150,378...10,251,397
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325
JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,430,015...10,496,127
Ensembl chr22:10,430,774...10,478,690
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 chr22:11,473,623...11,505,251
Ensembl chr22:11,473,494...11,507,096
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 chr22:11,343,260...11,462,390
Ensembl chr22:11,343,214...11,461,504
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 chr22:10,757,381...10,809,257
Ensembl chr22:10,757,337...10,772,704
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 PMID:25741914 NCBI chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733
JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,084,216...11,116,527
Ensembl chr22:11,085,808...11,116,287
JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,652,766...11,664,902
Ensembl chr22:11,656,918...11,665,418
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,540,958...11,574,888
Ensembl chr22:11,545,455...11,575,006
JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:9,871,882...9,905,733
Ensembl chr22:9,873,019...9,905,308
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 chr22:10,261,772...10,300,878
Ensembl chr22:10,261,634...10,300,778
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 chr22:10,035,676...10,046,274
Ensembl chr22:10,035,478...10,045,304
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 chr22:11,591,680...11,606,291
Ensembl chr22:11,591,717...11,606,355
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 chr22:10,809,342...10,813,655
Ensembl chr22:10,809,595...10,812,029
JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,029,176...10,030,420
Ensembl chr22:10,029,181...10,030,078
JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:11,220,152...11,262,942
Ensembl chr22:11,233,996...11,262,830
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 chr22:9,869,502...9,871,659 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 chr22:11,208,744...11,217,834
Ensembl chr22:11,207,417...11,217,734
JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:9,962,339...9,964,553 JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein I ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,000,432...10,012,524
Ensembl chr22:10,000,864...10,012,202
JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,510,554...10,523,576
Ensembl chr22:10,510,423...10,523,487
JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,672,920...10,735,374
Ensembl chr22:10,672,388...10,732,104
JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr22:10,407,421...10,416,295
Ensembl chr22:10,407,703...10,415,633
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 chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733
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 chr 1:7,708,595...7,724,634
Ensembl chr 1:7,705,725...7,724,589
JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 Ensembl chr 1:6,623,588...6,628,304 JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,774,648...6,783,095
Ensembl chr 1:6,773,364...6,783,318
JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,507,668...6,533,630 JBrowse link
G ALDH3B2 aldehyde dehydrogenase 3 family member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,594,240...6,607,230 JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,960,539...6,972,456
Ensembl chr 1:6,960,389...6,971,727
JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,373,256...4,581,914
Ensembl chr 1:4,373,252...4,490,557
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 chr 1:8,484,076...8,487,635
Ensembl chr 1:8,484,328...8,487,402
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,929,712...7,932,034
Ensembl chr 1:7,929,862...7,932,086
JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,254,186...8,255,571
Ensembl chr 1:8,253,884...8,255,572
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,737,887...7,765,022
Ensembl chr 1:7,737,578...7,764,732
JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,932,276...7,940,144
Ensembl chr 1:7,932,316...7,940,143
JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,741,202...6,744,931 JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,804,761...6,810,277
Ensembl chr 1:6,805,193...6,808,456
JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804
JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,838,960...6,849,542
Ensembl chr 1:6,839,950...6,847,124
JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,231,436...8,241,189
Ensembl chr 1:8,231,915...8,241,048
JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,366,166...8,367,670
Ensembl chr 1:8,366,409...8,367,017
JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,686,514...7,689,390
Ensembl chr 1:7,686,575...7,689,061
JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,670,137...7,686,389
Ensembl chr 1:7,667,873...7,686,428
JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,958,583...7,961,159
Ensembl chr 1:7,958,616...7,960,889
JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,914,214...8,921,031
Ensembl chr 1:8,914,787...8,915,437
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 chr 1:6,756,853...6,759,087
Ensembl chr 1:6,756,909...6,759,090
JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,411,606...6,482,508 JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,890,751...6,900,370 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 chr 1:7,982,685...7,988,834
Ensembl chr 1:7,982,700...7,988,753
JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,820,298...6,825,778
Ensembl chr 1:6,820,807...6,825,451
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,704,275...5,784,077
Ensembl chr 1:5,730,853...5,784,337
JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,244,483...8,246,551
Ensembl chr 1:8,244,485...8,245,968
JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,703,584...7,708,709
Ensembl chr 1:7,703,617...7,711,717
JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,374,426...8,378,496
Ensembl chr 1:8,369,620...8,378,578
JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,261,118...6,272,953 JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,338,524...8,340,838
Ensembl chr 1:8,338,593...8,340,841
JBrowse link
G CUNH11orf86 chromosome unknown C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,286,315...7,288,261
Ensembl chr 1:7,287,073...7,287,964
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522
JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,766,110...7,797,152
Ensembl chr 1:7,766,160...7,795,302
JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,336,085...8,338,393
Ensembl chr 1:8,335,949...8,338,446
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 chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889
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 chr 1:8,648,318...8,664,990
Ensembl chr 1:8,648,641...8,664,759
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 chr 1:8,255,904...8,259,278
Ensembl chr 1:8,255,378...8,259,104
JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,358,314...4,361,863 JBrowse link
G FAM89B family with sequence similarity 89 member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:8,666,812...8,669,128
Ensembl chr 1:8,667,370...8,668,320
JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,852,289...4,860,139
Ensembl chr 1:4,854,363...4,859,102
JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924
JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,786,296...4,791,441
Ensembl chr 1:4,789,203...4,791,036
JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,369,279...8,374,246 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 chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918
JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,824,966...8,853,292
Ensembl chr 1:8,827,122...8,852,792
JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,849,947...5,857,355
Ensembl chr 1:5,849,952...5,857,072
JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,210,003...8,217,503
Ensembl chr 1:8,214,007...8,217,477
JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,810,791...6,814,497
Ensembl chr 1:6,811,146...6,812,555
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,975,202...6,995,369
Ensembl chr 1:6,975,002...6,995,259
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737
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 chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972
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 chr 1:8,644,038...8,648,132
Ensembl chr 1:8,645,231...8,647,963
JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,004,109...7,152,072
Ensembl chr 1:7,003,784...7,082,720
JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,999,113...8,009,543 JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,308,565...6,367,272
Ensembl chr 1:6,308,742...6,367,393
JBrowse link
G LOC103221203 RNA-binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,604,440...7,638,536 JBrowse link
G LOC103221444 RNA-binding protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,594,565...7,607,824
Ensembl chr 1:7,594,677...7,604,199
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 chr 1:7,406,502...7,409,707
Ensembl chr 1:7,402,779...7,409,959
JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,090,048...6,224,956
Ensembl chr 1:6,089,930...6,190,383
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 chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740
JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:4,888,769...4,900,379
Ensembl chr 1:4,889,155...4,897,348
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 chr 1:8,625,431...8,639,049
Ensembl chr 1:8,625,961...8,638,924
JBrowse link
G MRGPRD MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,591,179...5,593,796 JBrowse link
G MRGPRF MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,559,186...5,569,839
Ensembl chr 1:5,563,977...5,568,959
JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,844,554...7,847,201
Ensembl chr 1:7,844,474...7,847,476
JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,655,043...5,667,452
Ensembl chr 1:5,654,387...5,669,290
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 chr 1:8,410,571...8,411,793 JBrowse link
G MYEOV myeloma overexpressed ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,268,229...5,269,105 JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,499,371...6,505,685
Ensembl chr 1:6,499,249...6,505,699
JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,650,547...6,656,185
Ensembl chr 1:6,648,520...6,656,172
JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,856,222...7,874,812
Ensembl chr 1:7,856,939...7,862,052
JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,641,316...6,643,353 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 chr 1:8,470,065...8,480,406
Ensembl chr 1:8,470,029...8,478,626
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,023,496...8,188,192
Ensembl chr 1:8,022,906...8,188,171
JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,310,738...7,418,357
Ensembl chr 1:7,357,246...7,417,998
JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:8,601,944...8,625,289
Ensembl chr 1:8,601,805...8,624,394
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 chr 1:7,800,430...7,811,226
Ensembl chr 1:7,799,182...7,811,208
JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,760,208...6,774,006
Ensembl chr 1:6,761,369...6,775,983
JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,940,102...8,977,049
Ensembl chr 1:8,938,769...8,976,771
JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,910,044...6,912,134
Ensembl chr 1:6,910,159...6,911,813
JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,862,536...6,866,212
Ensembl chr 1:6,862,540...6,865,855
JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,920,097...6,073,847
Ensembl chr 1:5,919,226...6,074,037
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 chr 1:6,825,821...6,828,305 JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,989,521...7,998,371
Ensembl chr 1:7,989,101...7,998,105
JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,865,990...6,945,179
Ensembl chr 1:6,866,840...6,941,486
JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,420,221...7,526,495
Ensembl chr 1:7,420,653...7,423,265
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 chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,196,999...7,215,239 JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,940,856...7,945,419
Ensembl chr 1:7,941,082...7,945,206
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 chr 1:8,526,761...8,535,984
Ensembl chr 1:8,526,788...8,528,027
JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,828,413...6,836,176
Ensembl chr 1:6,828,682...6,836,143
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 chr 1:8,279,821...8,296,282
Ensembl chr 1:8,275,123...8,296,245
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,189,636...8,207,024
Ensembl chr 1:8,189,446...8,207,020
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 chr 1:8,588,221...8,601,310
Ensembl chr 1:8,586,685...8,598,455
JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,857,346...8,865,517
Ensembl chr 1:8,856,977...8,865,358
JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,904,813...7,914,344
Ensembl chr 1:7,905,297...7,917,309
JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 1:8,394,618...8,426,155 JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,543,035...7,588,125
Ensembl chr 1:7,556,953...7,590,720
JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,951,130...6,960,445
Ensembl chr 1:6,951,139...6,959,441
JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,222,090...7,248,406
Ensembl chr 1:7,221,220...7,248,489
JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,854,259...6,860,709
Ensembl chr 1:6,854,236...6,860,481
JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,623,195...6,640,000
Ensembl chr 1:6,623,588...6,628,304
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 chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719
JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,788,231...5,834,900
Ensembl chr 1:5,789,096...5,834,873
JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,883,893...8,886,685
Ensembl chr 1:8,884,276...8,885,691
JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:6,794,195...6,799,206
Ensembl chr 1:6,794,294...6,798,941
JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,970,012...7,974,954
Ensembl chr 1:7,971,134...7,974,764
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
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:5,491,476...5,529,015
Ensembl chr 1:5,490,910...5,528,718
JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:8,297,479...8,314,162
Ensembl chr 1:8,298,065...8,313,905
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 chr 1:6,537,198...6,549,457
Ensembl chr 1:6,537,273...6,549,450
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 chr 1:7,977,690...7,982,313
Ensembl chr 1:7,977,867...7,984,211
JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 1:7,725,246...7,732,848 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 chr 1:8,669,227...8,670,594
Ensembl chr 1:8,666,769...8,670,527
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 chr 6:11,557,034...11,570,117
Ensembl chr 6:11,553,904...11,570,244
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,572,512...11,588,108
Ensembl chr 6:11,572,540...11,588,224
JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,516,337...11,555,940
Ensembl chr 6:11,520,813...11,557,680
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 chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363
JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,508,417...11,524,011 JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,581,915...11,599,770 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 chr 2:26,225,572...26,236,065
Ensembl chr 2:26,234,308...26,234,568
JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:25,877,750...26,055,283
Ensembl chr 2:25,877,700...26,055,209
JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,482,734...26,493,761
Ensembl chr 2:26,487,973...26,493,499
JBrowse link
G LOC103246453 retinoblastoma-like protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,593,657...26,601,041 JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,434,145...26,461,769
Ensembl chr 2:26,434,986...26,449,818
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 chr 2:26,563,075...26,587,815 JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,229,765...26,232,249
Ensembl chr 2:26,230,696...26,232,127
JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:26,503,344...26,563,958
Ensembl chr 2:26,503,597...26,564,142
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 chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525
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 chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776
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 chr 2:57,629,205...57,640,736
Ensembl chr 2:57,627,764...57,640,177
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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329
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 chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264
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 chr23:60,151,661...60,166,074
Ensembl chr23:60,152,784...60,164,483
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 chr11:6,974,741...6,976,922
Ensembl chr11:6,974,953...6,976,921
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 chr17:41,319,392...41,334,661
Ensembl chr17:41,319,423...41,334,502
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:61,430,723...61,433,777
Ensembl chr  X:61,430,725...61,433,386
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616
JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556
JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742
JBrowse link
G HDAC7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr11:44,002,616...44,040,766
Ensembl chr11:44,003,736...44,039,902
JBrowse link
G IKZF4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr11:51,944,959...51,976,652
Ensembl chr11:51,959,876...51,976,658
JBrowse link
G IL18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
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 chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449 RGD:8663450 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447
JBrowse link
G KDM1A lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr20:109,592,761...109,657,885
Ensembl chr20:109,593,074...109,657,839
JBrowse link
G KDM4A lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr20:89,108,090...89,164,657
Ensembl chr20:89,073,876...89,164,663
JBrowse link
G KDM4B lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 6:4,649,140...4,831,634
Ensembl chr 6:4,649,221...4,831,636
JBrowse link
G KDM4C lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666
JBrowse link
G KDM5A lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr11:285,206...381,481
Ensembl chr11:286,728...381,430
JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; RGD PMID:16231148 RGD:8547568 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G MX1 MX dynamin like GTPase 1 onset ISO DNA:SNP:intron 6:g.9959C>T (human) RGD PMID:10942113 RGD:126777672 NCBI chr 2:85,333,327...85,368,179
Ensembl chr 2:85,338,530...85,368,507
JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365
JBrowse link
G PRDX5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:9,912,947...9,917,439
Ensembl chr 1:9,912,898...9,917,361
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 chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827
JBrowse link
G STX17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr12:39,457,816...39,525,138
Ensembl chr12:39,462,367...39,516,531
JBrowse link
G ULBP3 UL16 binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr13:77,468,549...77,491,049 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 chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156
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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841
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 chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
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 chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089
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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735
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 chr29:7,756,742...7,769,061
Ensembl chr29:7,757,158...7,765,777
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 chr 1:28,667,996...28,701,002 JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism: :HLA-DQA1*0501;
RGD PMID:8666549 PMID:15067086 PMID:18671865 RGD:5147790 RGD:5147796 RGD:8547569 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
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 chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391
JBrowse link
G ANO6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr11:41,420,206...41,633,323
Ensembl chr11:41,419,901...41,633,347
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 7:28,345,849...28,499,818
Ensembl chr 7:28,375,899...28,499,522
JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr12:102,972,652...102,999,248
Ensembl chr12:102,972,541...102,999,368
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr12:1,829,913...1,841,489
Ensembl chr12:1,832,989...1,837,914
JBrowse link
G CRP C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 4:90,707,064...90,754,413
Ensembl chr 4:90,707,181...90,752,325
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr20:2,466,492...2,475,579 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr23:61,714,293...61,731,835 JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr14:5,672,434...5,708,270
Ensembl chr14:5,673,163...5,708,372
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNP: :rs11209026(human)
DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:128,433,462...128,443,126
Ensembl chr  X:128,433,465...128,443,043
JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710
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 chr11:285,206...381,481
Ensembl chr11:286,728...381,430
JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr17:39,246,356...39,251,852
Ensembl chr17:39,245,854...39,251,842
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:21743469 RGD:6483530 NCBI chr 4:39,440,697...39,453,983
Ensembl chr 4:39,440,276...39,454,004
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr17:39,252,000...39,260,195 JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr17:39,266,870...39,277,658 JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr16:68,092,243...68,110,074
Ensembl chr16:68,094,265...68,110,149
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr25:6,418,895...6,440,433
Ensembl chr25:6,437,638...6,440,211
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497
JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278
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 mRNA, protein:increased expression:liver, plasma
protein:increased expression:kidney, urine
RGD PMID:7550093 PMID:21282555 RGD:11039051 RGD:5129185 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr15:41,957,826...42,002,776 JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 6:42,186,028...42,193,105 JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr 5:43,343,525...43,350,096
Ensembl chr 5:43,346,329...43,348,599
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:17898087 PMID:20071465 PMID:21894146 RGD:2307059 RGD:4145614 RGD:6218988 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr22:61,258,281...61,294,772 JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 Ensembl chr17:40,069,909...40,094,207 JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr20:23,615,107...23,635,399 JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment
ameliorates
ISO RGD PMID:19242505 PMID:21519331 RGD:151665824 RGD:7257569 NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086 PMID:10712436 RGD:11352257 RGD:6902936 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr15:136,757...153,316
Ensembl chr15:150,718...151,785
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr 9:40,005,580...40,020,513
Ensembl chr 9:40,011,439...40,020,494
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr23:74,931,421...74,934,510
Ensembl chr23:74,929,863...74,934,532
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa no_association ISO DNA:polymorphism:exon:(rs396991)(human)
DNA:cnv: :
RGD PMID:19640933 PMID:19946017 RGD:5508400 RGD:5508403 NCBI chr20:2,466,492...2,475,579 JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr 6:47,614,221...47,630,020 JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9350645 PMID:17898087 RGD:2307059 RGD:2317673 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412 PMID:9032136 RGD:2308810 RGD:9698425 NCBI chr10:66,984,687...67,063,158
Ensembl chr10:66,984,887...67,061,636
JBrowse link
G LOC103223491 peroxisome proliferator-activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr19:28,614,892...28,709,272
Ensembl chr19:28,615,413...28,708,763
JBrowse link
G LOC103233057 C-C motif chemokine 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr 5:43,297,206...43,305,662
Ensembl chr 5:43,297,897...43,305,642
JBrowse link
G LOC103233058 fractalkine ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 5:43,310,711...43,323,533
Ensembl chr 5:43,310,753...43,323,529
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr17:36,012,164...36,095,542
Ensembl chr17:36,014,454...36,095,138
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425
JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 ISO RGD PMID:21569485 RGD:5147561 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr 8:25,437,680...25,571,594
Ensembl chr 8:25,437,564...25,571,782
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr12:6,407,030...6,566,200
Ensembl chr12:6,437,454...6,567,436
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598
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 chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr27:29,650,589...30,020,105
Ensembl chr27:29,650,337...29,803,612
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr12:101,254,085...101,374,724
Ensembl chr12:101,260,061...101,349,856
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862
JBrowse link
G XCL1 X-C motif chemokine ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304
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 chr19:12,357,982...12,375,449 JBrowse link
G NEFL neurofilament light chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222
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 CD163 CD163 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:27094919 RGD:127285685 NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295
JBrowse link
G CSF3 colony stimulating factor 3 ISO protein:increased expression:serum: RGD PMID:23087180 RGD:11039411 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172
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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:23873874 RGD:11340221 NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408
JBrowse link
G ITGAM integrin subunit alpha M ISO associated with crescentic glomerulonephritis;protein:increased expression:monocyte (human) RGD PMID:18846416 RGD:7241813 NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691
JBrowse link
G LTF lactotransferrin ISO RGD PMID:23201854 RGD:7243106 NCBI chr22:7,867,332...7,896,403
Ensembl chr22:7,867,286...7,894,521
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G MPO myeloperoxidase disease_progression ISO RGD PMID:23085883 RGD:7174703 NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671
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 chr20:19,792,807...19,855,784
Ensembl chr20:19,793,083...19,855,827
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:21190299 RGD:7240543 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
JBrowse link
G TNF tumor necrosis factor severity ISO protein:increased expression:serum RGD PMID:19690440 RGD:7245518
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497
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 chr16:55,209,142...55,231,176 JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:16188945 RGD:11344980 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
JBrowse link
G CRP C-reactive protein ISO RGD PMID:17014014 RGD:6907402 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 ISO DNA:polymorphisms (human) RGD PMID:11157139 RGD:5147862 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G PF4V1 platelet factor 4 variant 1 severity ISO RGD PMID:26283469 RGD:401794584 NCBI chr 7:22,308,520...22,310,263 JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:16320350 RGD:1580877 NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182703 NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418
JBrowse link
G PPBP pro-platelet basic protein ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr 7:22,470,670...22,471,841
Ensembl chr 7:22,470,573...22,471,809
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531
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 chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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 chr 5:57,705,022...57,838,569
Ensembl chr 5:57,709,277...57,838,704
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 chr16:22,342,750...22,346,811
Ensembl chr16:22,341,318...22,346,620
JBrowse link
G ANXA5 annexin A5 ISO RGD PMID:15486486 RGD:10053691 NCBI chr 7:68,940,365...68,970,324
Ensembl chr 7:68,940,304...68,970,811
JBrowse link
G EOMES eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr15:72,257,626...72,264,563 JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 1:110,682,631...110,691,717
Ensembl chr 1:110,684,458...110,691,707
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 chr 3:91,618,147...91,629,177
Ensembl chr 3:91,618,957...91,627,679
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 chr21:71,735,486...71,741,951
Ensembl chr21:71,735,253...71,742,954
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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:35,148,552...35,176,121
Ensembl chr18:35,146,190...35,174,948
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182
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 chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991
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 chr  X:11,387,933...11,405,056
Ensembl chr  X:11,400,907...11,404,029
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 chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16115720 NCBI chr12:37,993,367...38,021,693
Ensembl chr12:38,007,265...38,021,258
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr11:7,106,769...7,115,055
Ensembl chr11:7,139,115...7,148,056
Ensembl chr11:7,139,115...7,148,056
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CD274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 7:22,327,041...22,329,405
Ensembl chr 7:22,569,355...22,569,900
Ensembl chr 7:22,569,355...22,569,900
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO protein:increased expression:serum: RGD PMID:3186722 PMID:10435724 RGD:11353781 RGD:7207226 NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870
JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:28551553 RGD:14700710 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO human gene in a mouse model RGD PMID:9195373 RGD:14694814 NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
JBrowse link
G IL13 interleukin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
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 chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
JBrowse link
G IL21 interleukin 21 exacerbates ISO protein:increased expression:blood serum, peripheral blood mononuclear cell (human) RGD PMID:27386263 RGD:127285554 NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
JBrowse link
G IL22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:63,881,743...63,887,695
Ensembl chr11:63,882,093...63,886,761
JBrowse link
G IL4 interleukin 4 susceptibility
treatment
ISO DNA:SNPs:promoter:-590C>T,-33T>C (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
RGD
CTD
PMID:21227906 PMID:26735262 PMID:30034292 RGD:14696677 RGD:14696683 NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
JBrowse link
G IL5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr23:38,641,228...38,645,810
Ensembl chr23:38,641,741...38,645,276
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220
JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility ISO DNA:SNP, polymorphism:3' utr, :g.33087030G>A, HLA-DPB1*04:05 (rs9277534) (human) RGD PMID:30093645 RGD:150429797 NCBI chr17:38,996,329...39,007,097 JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:19781375 PMID:23869988 RGD:40818236 RGD:41412171 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:19781375 RGD:41412171 NCBI chr12:73,938,194...73,998,028
Ensembl chr12:73,938,042...73,997,770
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO RGD PMID:20208391 RGD:9999172 NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966
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 chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: : RGD PMID:15683428 RGD:14402024 NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr17:28,377,959...28,394,508 JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chr 5:55,912,325...56,174,010
Ensembl chr 5:55,907,983...56,085,112
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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
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 chr20:4,742,326...4,746,615 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 chr20:2,781,184...2,791,464
Ensembl chr20:2,783,855...2,792,170
JBrowse link
G AIM2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,759,746...4,884,460
Ensembl chr20:4,873,008...4,884,764
JBrowse link
G APCS amyloid P component, serum ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,360,955...4,363,810
Ensembl chr20:4,358,654...4,362,095
JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,757,939...2,760,356
Ensembl chr20:2,759,237...2,760,686
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 chr20:2,922,593...2,942,563
Ensembl chr20:2,922,935...2,941,817
JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,112,819...2,304,063
Ensembl chr20:2,117,982...2,304,027
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 chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692
JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,759,509...3,794,106
Ensembl chr20:3,759,597...3,793,980
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 chr20:2,807,510...2,814,480
Ensembl chr20:2,807,895...2,814,476
JBrowse link
G CADM3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,746,751...4,777,321
Ensembl chr20:4,747,800...4,777,298
JBrowse link
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,744,921...3,759,220
Ensembl chr20:3,744,780...3,756,435
JBrowse link
G CD244 CD244 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,103,226...3,138,322 JBrowse link
G CD48 CD48 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,235,817...3,253,107
Ensembl chr20:3,235,988...3,251,655
JBrowse link
G CD84 CD84 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,358,751...3,397,075
Ensembl chr20:3,358,827...3,389,895
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 chr20:2,608,511...2,612,088
Ensembl chr20:2,608,942...2,611,852
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 chr20:4,036,029...4,078,608
Ensembl chr20:4,050,311...4,078,587
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 chr20:3,605,903...3,658,555
Ensembl chr20:3,606,293...3,659,402
JBrowse link
G CRP C-reactive protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
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 chr20:3,685,340...3,731,323
Ensembl chr20:3,703,641...3,729,479
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 chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674
JBrowse link
G DEDD death effector domain containing ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,848,294...2,858,746
Ensembl chr20:2,848,510...2,858,618
JBrowse link
G DUSP12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,316,668...2,319,972 JBrowse link
G DUSP23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,169,422...4,171,092
Ensembl chr20:4,169,418...4,170,947
JBrowse link
G F11R F11 receptor ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,966,019...2,986,177
Ensembl chr20:2,966,164...2,984,269
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 chr20:4,635,316...4,640,787
Ensembl chr20:4,635,328...4,640,590
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 chr20:2,763,412...2,767,774
Ensembl chr20:2,763,417...2,767,248
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 chr20:2,480,710...2,512,429 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,466,492...2,475,579 JBrowse link
G FCRLA Fc receptor like A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,359,034...2,366,986
Ensembl chr20:2,359,035...2,366,699
JBrowse link
G FCRLB Fc receptor like B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,344,021...2,351,838
Ensembl chr20:2,344,502...2,349,502
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 chr20:2,490,826...2,495,376 JBrowse link
G IFI16 interferon gamma inducible protein 16 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,891,816...4,933,476
Ensembl chr20:4,888,779...4,933,478
JBrowse link
G IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,845,767...3,853,077
Ensembl chr20:3,848,946...3,852,609
JBrowse link
G IGSF9 immunoglobulin superfamily member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,004,936...4,023,451
Ensembl chr20:4,007,086...4,023,444
JBrowse link
G ITLN1 intelectin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,051,929...3,088,690
Ensembl chr20:3,078,856...3,089,055
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 chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652
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 chr20:3,853,906...3,913,049
Ensembl chr20:3,856,705...3,860,665
JBrowse link
G KLHDC9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,880,750...2,882,697
Ensembl chr20:2,879,951...2,883,062
JBrowse link
G LOC103223672 low affinity immunoglobulin gamma Fc region receptor II-b ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,398,425...2,413,328 JBrowse link
G LOC103223747 SLAM family member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,114,403...4,127,122
Ensembl chr20:4,116,630...4,124,988
JBrowse link
G LOC103223750 Fc receptor-like protein 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,134,780...4,170,617
Ensembl chr20:4,135,153...4,148,730
JBrowse link
G LOC103223754 olfactory receptor 10J5 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,401,134...4,403,747 JBrowse link
G LOC103223760 olfactory receptor 10J3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,627,938...4,629,669 JBrowse link
G LOC103223772 olfactory receptor 6N2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:5,142,649...5,143,982
Ensembl chr20:5,142,874...5,143,827
JBrowse link
G LOC103223775 olfactory receptor 6K6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:5,161,160...5,187,401
Ensembl chr20:5,162,699...5,163,631
JBrowse link
G LOC103223778 olfactory receptor 6K2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:5,221,383...5,224,559 JBrowse link
G LY9 lymphocyte antigen 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,140,059...3,145,818 JBrowse link
G MNDA myeloid cell nuclear differentiation antigen ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:5,079,633...5,124,967
Ensembl chr20:5,079,632...5,095,868
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393
JBrowse link
G NCSTN nicastrin ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,590,044...3,606,205
Ensembl chr20:3,590,725...3,606,066
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 chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704
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 chr20:2,890,082...2,910,271
Ensembl chr20:2,891,603...2,919,915
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 chr20:3,576,519...3,582,427
Ensembl chr20:3,578,227...3,578,628
JBrowse link
G NIT1 nitrilase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,859,582...2,862,688
Ensembl chr20:2,860,008...2,862,601
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 chr 6:46,507,241...46,533,832
Ensembl chr 6:46,507,410...46,533,615
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 chr20:2,724,843...2,752,999
Ensembl chr20:2,744,908...2,756,658
JBrowse link
G OLFML2B olfactomedin like 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,053,696...2,094,142
Ensembl chr20:2,053,852...2,094,126
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 chr20:2,699,360...2,724,201 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 chr20:3,731,658...3,741,614
Ensembl chr20:3,733,549...3,741,585
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,663,375...3,672,113
Ensembl chr20:3,663,001...3,669,404
JBrowse link
G PFDN2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,862,695...2,880,540
Ensembl chr20:2,862,738...2,880,534
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 chr20:3,913,163...3,914,853
Ensembl chr20:3,913,336...3,914,607
JBrowse link
G PPOX protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,814,571...2,819,384
Ensembl chr20:2,814,571...2,818,936
JBrowse link
G PYHIN1 pyrin and HIN domain family member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,967,123...5,006,172
Ensembl chr20:4,967,224...5,006,035
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 chr20:2,613,618...2,658,374 JBrowse link
G SH2D1B SH2 domain containing 1B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:1,667,247...1,684,951
Ensembl chr20:1,668,588...1,682,949
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 chr20:3,282,862...3,320,943
Ensembl chr20:3,282,774...3,322,926
JBrowse link
G SLAMF6 SLAM family member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,426,868...3,465,553
Ensembl chr20:3,453,370...3,463,901
JBrowse link
G SLAMF7 SLAM family member 7 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,204,784...3,219,275
Ensembl chr20:3,202,661...3,219,199
JBrowse link
G SLAMF9 SLAM family member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:3,995,446...3,998,336
Ensembl chr20:3,995,404...3,998,501
JBrowse link
G SPATA46 spermatogenesis associated 46 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:1,703,879...1,707,212
Ensembl chr20:1,704,416...1,707,145
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887
JBrowse link
G TAGLN2 transgelin 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:4,024,948...4,032,361
Ensembl chr20:4,024,775...4,032,526
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 chr20:2,752,056...2,756,719
Ensembl chr20:2,751,114...2,756,658
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 chr20:2,950,536...2,952,100 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 chr20:1,489,372...1,527,767
Ensembl chr20:1,488,506...1,527,699
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 chr20:2,826,909...2,848,210 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 chr20:1,564,205...1,594,841
Ensembl chr20:1,571,266...1,594,953
JBrowse link
G USF1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,943,505...2,950,481
Ensembl chr20:2,943,559...2,949,807
JBrowse link
G USP21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr20:2,820,012...2,826,817
Ensembl chr20:2,820,333...2,825,131
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 chr20:3,521,066...3,549,301
Ensembl chr20:3,521,060...3,548,718
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 chr20:4,091,971...4,096,947
Ensembl chr20:4,088,450...4,096,212
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 chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446
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 chr 9:82,243,416...82,281,308
Ensembl chr 9:82,243,230...82,281,012
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 chr25:55,525,068...55,584,488
Ensembl chr25:55,535,206...55,588,422
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 chr10:86,830,101...86,884,729
Ensembl chr10:86,830,589...86,871,200
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
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 chr25:55,361,946...55,394,091
Ensembl chr25:55,379,756...55,393,734
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 chr 9:82,632,151...82,634,101
Ensembl chr 9:82,633,004...82,633,819
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 chr25:56,686,755...56,735,766 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 chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248
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 chr25:56,735,877...57,285,557
Ensembl chr25:56,746,215...57,285,498
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 chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
JBrowse link
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 9:82,711,647...82,718,983
Ensembl chr 9:82,711,612...82,718,973
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 chr 9:82,738,747...82,750,134
Ensembl chr 9:82,743,001...82,751,309
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 chr25:55,407,648...55,473,195
Ensembl chr25:55,405,713...55,473,175
JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 9:82,639,220...82,677,479
Ensembl chr 9:82,638,621...82,677,488
JBrowse link
G LIPM lipase family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 9:82,212,905...82,243,055
Ensembl chr 9:82,224,603...82,242,574
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 chr 9:82,182,344...82,201,550
Ensembl chr 9:82,185,101...82,201,549
JBrowse link
G LOC103230557 roquin-1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr25:55,167,418...55,258,964
Ensembl chr25:55,167,077...55,279,088
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 chr25:57,323,818...57,344,501
Ensembl chr25:57,329,301...57,344,867
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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 chr25:57,458,615...57,475,329
Ensembl chr25:57,459,374...57,475,322
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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 chr25:56,711,459...56,714,109
Ensembl chr25:56,712,941...56,713,834
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 chr25:55,706,920...55,719,196
Ensembl chr25:55,706,885...55,718,665
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 chr25:55,271,823...55,289,855 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 chr25:55,599,427...55,695,763
Ensembl chr25:55,601,011...55,693,207
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 chr 9:82,303,521...82,347,235 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 chr25:56,541,074...56,623,086
Ensembl chr25:56,541,038...56,623,201
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 chr25:56,105,757...56,118,249
Ensembl chr25:56,106,584...56,118,758
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 chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374
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 chr25:57,381,143...57,421,886
Ensembl chr25:57,384,757...57,421,893
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 chr25:55,304,954...55,323,670
Ensembl chr25:55,306,282...55,323,162
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 chr10:86,830,101...86,884,729
Ensembl chr10:86,830,589...86,871,200
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 chr10:89,074,333...89,314,144
Ensembl chr10:89,075,798...89,181,235
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 chr10:87,389,130...87,473,134 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 chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734
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 chr10:87,133,453...87,303,521
Ensembl chr10:87,133,461...87,302,735
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 chr10:88,650,436...88,735,369
Ensembl chr10:88,651,152...88,735,384
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 chr10:86,830,101...86,884,729
Ensembl chr10:86,830,589...86,871,200
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 chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829
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 chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387
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 chr10:87,499,225...87,592,748
Ensembl chr10:87,499,808...87,589,730
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 chr10:86,768,252...86,819,963
Ensembl chr10:86,782,240...86,816,652
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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr10:88,986,394...89,051,344
Ensembl chr10:88,987,016...89,042,537
JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar