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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.



show annotations for term's descendants           Sort by:
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 2:9,186,984...9,216,450 JBrowse link
G AICDA activation induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21305519 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369
JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: therapeutic
associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine
CTD
RGD
PMID:17214095 PMID:21793797 RGD:6482731 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214
JBrowse link
G C4A complement C4A (Rodgers blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452682 NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,019...24,083,061
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chr10:38,389,366...38,415,903
Ensembl chr10:38,389,331...38,415,901
JBrowse link
G CASP8 caspase 8 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:17880769 RGD:2311245 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21169727 RGD:5683913 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
JBrowse link
G CD200 CD200 molecule ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chr13:147,465,858...147,485,818
Ensembl chr13:147,465,863...147,486,141
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494542 PMID:19077085 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G CENPA centromere protein A ISO RGD PMID:10759786 RGD:36947376 NCBI chr 3:112,263,912...112,272,638
Ensembl chr 3:112,263,915...112,272,621
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G COPA COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr 4:90,142,629...90,191,743
Ensembl chr 4:90,141,216...90,193,389
JBrowse link
G CRYAA crystallin alpha A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr13:206,293,877...206,297,050
Ensembl chr13:206,293,849...206,297,015
JBrowse link
G CRYBB2 crystallin beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr14:43,206,138...43,220,833
Ensembl chr14:43,209,311...43,220,837
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12517959 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:23444399 RGD:9588650 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:11886462 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:2545777 PMID:22536412 PMID:26590112 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FBL fibrillarin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8738957 PMID:9693280 PMID:19077085 NCBI chr 6:48,314,782...48,326,433
Ensembl chr 6:48,314,783...48,326,436
JBrowse link
G FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10848805 PMID:18390752 RGD:7240525 NCBI chr 4:88,873,762...88,892,964 JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO DNA:missense mutation:cds:p.E160D RGD PMID:17589521 RGD:6484213 NCBI chr 2:9,752,004...9,756,863
Ensembl chr 2:9,752,013...9,756,728
JBrowse link
G GPR132 G protein-coupled receptor 132 ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO
G HARS1 histidyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23256773 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33617879 NCBI chr17:35,708,549...35,751,590
Ensembl chr17:35,709,349...35,751,582
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23953224 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957
JBrowse link
G HP haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HPX hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641331 NCBI chr 9:3,288,288...3,297,051
Ensembl chr 9:3,288,172...3,297,047
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,253...140,531,857
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 chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9647229 PMID:19077085 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO RGD PMID:15470078 RGD:5024943 NCBI chr 3:51,803,383...51,844,758
Ensembl chr 3:51,803,175...51,844,684
JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO RGD PMID:12196288 RGD:5684380 NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7871386 PMID:8898950 PMID:19077085 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19077085 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr12:21,115,453...21,119,115
Ensembl chr12:21,115,448...21,119,107
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 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO coeliac disease RGD PMID:16026592 RGD:1601087 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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 chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G RBP3 retinol binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20007828 PMID:21850155 NCBI chr14:88,491,701...88,503,388
Ensembl chr14:88,490,013...88,504,510
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO RGD PMID:22551552 RGD:6482826 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
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 9:51,879,220...51,918,974
Ensembl chr 9:51,879,224...51,918,827
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23993977 NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:22867713 RGD:7243973 NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989
JBrowse link
G TG thyroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chr 4:8,158,395...8,382,435
Ensembl chr 4:8,158,396...8,382,435
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24453940 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21074606 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9766631 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666
JBrowse link
G TPO thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chr 3:132,384,677...132,409,750
Ensembl chr 3:132,384,583...132,409,208
JBrowse link
G TSSK1 testis specific serine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15140057 NCBI chr14:50,937,885...50,938,979
Ensembl chr14:50,937,885...50,938,979
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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G NEFL neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
JBrowse link
G SLA-DRB1 MHC class II histocompatibility antigen SLA-DRB1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB5*0101 (human) RGD PMID:15201511 RGD:40818409 NCBI chr 7:24,901,386...24,914,016
Ensembl chr 7:24,881,775...24,914,053
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 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193
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:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741
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 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs12917716C
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18593762 RGD:5491177 NCBI chr 3:31,938,133...32,158,343
Ensembl chr 3:31,938,135...32,158,320
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
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 chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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 chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304
JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17660818 PMID:17846997 PMID:20131292 PMID:21270825 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
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 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697
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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274
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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17660818 PMID:17846997 PMID:20131292 PMID:21270825 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470
JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,205,863...32,214,517
Ensembl chr13:32,205,609...32,214,518
JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226
JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,569,765...31,570,548 JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,106,967...32,203,461
Ensembl chr13:32,159,630...32,195,578
JBrowse link
G C13H3orf62 chromosome 13 C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,840,281...31,848,825
Ensembl chr13:31,845,055...31,848,482
JBrowse link
G C13H3orf84 chromosome 13 C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,780,619...31,790,704
Ensembl chr13:31,780,277...31,792,782
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 chr13:32,381,122...32,401,480
Ensembl chr13:32,381,128...32,392,987
JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,763,802...31,771,260
Ensembl chr13:31,767,495...31,771,218
JBrowse link
G CDHR4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,322,030...32,329,530
Ensembl chr13:32,322,034...32,329,337
JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,331,563...31,357,374
Ensembl chr13:31,331,574...31,357,469
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 chr13:31,262,750...31,295,112 JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450
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 chr13:31,650,880...31,656,320
Ensembl chr13:31,650,967...31,656,306
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155
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 chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
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 chr13:32,671,377...32,678,394
Ensembl chr13:32,671,432...32,678,391
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793
JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
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 chr13:32,756,671...32,790,763
Ensembl chr13:32,756,680...32,790,672
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,802,963...31,836,911
Ensembl chr13:31,802,948...31,837,912
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,658,642...31,663,660
Ensembl chr13:31,658,650...31,663,552
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 chr13:32,329,872...32,332,167 JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,253,515...32,320,005
Ensembl chr13:32,253,515...32,319,988
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,775,339...31,780,483
Ensembl chr13:31,775,694...31,780,484
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,286...31,750,833
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 chr13:32,752,515...32,757,042
Ensembl chr13:32,753,199...32,757,034
JBrowse link
G MIR191 microRNA mir-191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,655,484...31,655,563
Ensembl chr13:31,655,484...31,655,563
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 chr13:32,426,733...32,437,735
Ensembl chr13:32,426,736...32,437,862
JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902
JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920
JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,366,574...31,377,684
Ensembl chr13:31,363,765...31,377,672
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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
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 chr13:32,002,658...32,007,266
Ensembl chr13:32,002,660...32,007,217
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,627,230...31,642,251
Ensembl chr13:31,627,225...31,642,399
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 chr13:31,212,553...31,259,785
Ensembl chr13:31,212,552...31,259,749
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 chr13:31,427,786...31,517,005
Ensembl chr13:31,426,213...31,517,122
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197
JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,663,812...31,714,523
Ensembl chr13:31,658,642...31,714,455
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 chr13:32,579,780...32,612,716
Ensembl chr13:32,579,983...32,612,710
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 chr13:32,444,944...32,569,818
Ensembl chr13:32,444,963...32,569,815
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 chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,216,761...32,250,742
Ensembl chr13:32,218,384...32,250,739
JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,621
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,180,844...31,205,724
Ensembl chr13:31,180,846...31,205,731
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 chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
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 chr13:31,319,287...31,330,649
Ensembl chr13:31,317,877...31,330,580
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 chr13:32,683,131...32,699,803
Ensembl chr13:32,683,126...32,704,535
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 chr13:31,991,408...31,995,274
Ensembl chr13:31,991,610...31,998,129
JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,315,148...31,316,849
Ensembl chr13:31,315,737...31,316,740
JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,332,336...32,380,988
Ensembl chr13:32,345,599...32,379,766
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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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 chr13:32,330,536...32,341,300
Ensembl chr13:32,332,367...32,341,217
JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,261,196...31,261,824
Ensembl chr13:31,261,196...31,261,534
JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,298,449...31,308,719
Ensembl chr13:31,298,449...31,309,516
JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,726,668...31,738,135
Ensembl chr13:31,726,672...31,737,981
JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,844,780...31,904,418
Ensembl chr13:31,848,851...31,904,243
JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,642,207...31,651,367
Ensembl chr13:31,642,325...31,651,361
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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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 2:5,860,386...5,873,779
Ensembl chr 2:5,860,391...5,874,124
JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,932,836...4,938,249 JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781
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 2:4,868,561...4,889,179 JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,194,010...5,207,057
Ensembl chr 2:5,193,153...5,206,993
JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,202,269...3,373,409
Ensembl chr 2:3,202,166...3,373,411
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 2:6,538,784...6,551,337
Ensembl chr 2:6,547,998...6,553,761
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817
JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,333,451...6,335,326
Ensembl chr 2:6,333,453...6,334,839
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388
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 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,667
JBrowse link
G C2H11orf24 chromosome 2 C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,682,204...4,692,016 JBrowse link
G C2H11orf68 chromosome 2 C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,411,833...6,414,280
JBrowse link
G C2H11orf86 chromosome 2 C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,466,633...5,469,128
Ensembl chr 2:5,467,059...5,469,209
JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188
JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684
JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,097,238...5,105,697
Ensembl chr 2:5,097,243...5,105,696
JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,312,906...6,321,690
Ensembl chr 2:6,312,906...6,321,690
JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,436,787...6,437,828
Ensembl chr 2:6,436,794...6,437,808
JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,833,431...5,838,922
Ensembl chr 2:5,833,464...5,836,686
JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,819,471...5,833,263
Ensembl chr 2:5,819,472...5,836,064
JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,070,885...6,073,518
Ensembl chr 2:6,070,910...6,073,509
JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,897,497...6,904,040
Ensembl chr 2:6,895,847...6,904,040
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 2:5,025,256...5,027,766
Ensembl chr 2:5,025,600...5,027,764
JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,788,508...4,846,667
Ensembl chr 2:4,788,213...4,846,665
JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692
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 2:6,102,347...6,109,424 JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,081,294...5,086,698
Ensembl chr 2:5,080,660...5,086,690
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911
JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415
JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,855,083...5,860,258
Ensembl chr 2:5,855,111...5,860,251
JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,446,105...6,450,357
Ensembl chr 2:6,446,105...6,450,360
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,332...6,886,467
JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,907,251...5,948,019
Ensembl chr 2:5,907,252...5,946,734
JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,655...6,412,395
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 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486
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 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888
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 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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 2:6,680,832...6,682,506
Ensembl chr 2:6,681,490...6,682,511
JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,583,027...3,586,985
Ensembl chr 2:3,582,828...3,587,752
JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,527,113...3,529,011
Ensembl chr 2:3,526,914...3,529,874
JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927
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 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173
JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,822,964...6,843,941
Ensembl chr 2:6,822,967...6,843,470
JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,351,113...4,357,167
Ensembl chr 2:4,351,113...4,356,647
JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,297,797...6,306,200
Ensembl chr 2:6,297,855...6,306,198
JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,074,079...5,077,503
Ensembl chr 2:5,075,236...5,076,651
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 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758
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 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
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 2:6,657,841...6,662,445
Ensembl chr 2:6,659,054...6,662,288
JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,238,690...5,357,799
Ensembl chr 2:5,240,312...5,357,829
JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951
JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,110,438...6,116,443
Ensembl chr 2:6,102,354...6,116,221
JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,710,510...4,768,237
Ensembl chr 2:4,711,023...4,765,979
JBrowse link
G LOC100522421 aldehyde dehydrogenase family 3 member B2-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,910,123...4,928,559
Ensembl chr 2:4,920,068...4,928,554
JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,005,498...5,009,247 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 2:5,576,625...5,579,397
Ensembl chr 2:5,576,622...5,580,009
JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944
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 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,607,605...3,615,621
Ensembl chr 2:3,607,600...3,615,616
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 2:6,640,061...6,657,717
Ensembl chr 2:6,640,056...6,657,713
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 2:4,123,786...4,132,938
Ensembl chr 2:4,123,829...4,132,938
JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,978,470...5,981,449
Ensembl chr 2:5,978,483...5,981,449
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 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112
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 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
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 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,990,936...5,995,940
Ensembl chr 2:5,990,327...5,995,929
JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,948,808...4,952,538 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 2:6,526,679...6,538,992
Ensembl chr 2:6,526,671...6,538,921
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 2:6,138,345...6,277,309
Ensembl chr 2:6,138,351...6,174,632
JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797
JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,619,213...6,639,933
Ensembl chr 2:6,619,215...6,639,953
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 2:5,950,552...5,959,786
Ensembl chr 2:5,948,849...5,959,734
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 2:5,028,889...5,042,302
Ensembl chr 2:5,028,935...5,044,295
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 2:6,922,384...6,950,289
Ensembl chr 2:6,922,387...6,950,179
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 2:5,160,906...5,162,753
Ensembl chr 2:5,160,955...5,164,266
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 2:5,120,202...5,123,168
Ensembl chr 2:5,119,939...5,123,617
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 2:4,394,670...4,523,421
Ensembl chr 2:4,394,675...4,523,411
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 2:5,087,203...5,089,359
Ensembl chr 2:5,087,256...5,089,359
JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,123,142...5,129,740
Ensembl chr 2:5,123,134...5,129,703
JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,776,535...5,784,337
Ensembl chr 2:5,776,539...5,784,337
JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,791,445...5,800,784
Ensembl chr 2:5,759,098...5,800,748
JBrowse link
G RBM4B RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,745,364...5,758,177 JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,587,853...5,595,408
Ensembl chr 2:5,588,546...5,593,142
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 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,392,546...5,404,214
Ensembl chr 2:5,392,547...5,404,339
JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,053,875...6,061,051 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 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274
JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,089,466...5,095,591
Ensembl chr 2:5,089,471...5,095,575
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 2:6,355,690...6,373,342
Ensembl chr 2:6,354,908...6,373,272
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639
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 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566
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 2:6,851,101...6,857,886
Ensembl chr 2:6,851,617...6,857,880
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 2:6,027,287...6,036,280
Ensembl chr 2:6,027,287...6,036,280
JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,474,788...6,488,738
Ensembl chr 2:6,475,024...6,488,657
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,185,480...5,193,875
Ensembl chr 2:5,185,503...5,193,155
JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,410,605...5,434,492
Ensembl chr 2:5,410,627...5,433,926
JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,112,462...5,118,829
Ensembl chr 2:5,112,467...5,121,061
JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,945,381...4,948,117
Ensembl chr 2:4,941,136...4,948,781
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 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498
JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,296,855...4,340,970
Ensembl chr 2:4,297,952...4,340,968
JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,865,008...6,867,940
Ensembl chr 2:6,865,374...6,866,789
JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,057,244...5,063,266
Ensembl chr 2:5,057,322...5,063,725
JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,543...6,095,352
JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,593,245...5,699,263
Ensembl chr 2:5,593,245...5,697,799
JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,069,267...4,105,065
Ensembl chr 2:4,069,280...4,105,042
JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,374,617...6,391,457
Ensembl chr 2:6,374,617...6,387,718
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 2:4,898,414...4,909,833
Ensembl chr 2:4,898,409...4,909,856
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 2:6,097,749...6,101,965
Ensembl chr 2:6,095,877...6,102,037
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 2:5,874,509...5,883,525 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 2:6,680,832...6,684,564
Ensembl chr 2:6,683,057...6,684,494
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 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
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 2:66,153,109...66,184,303
Ensembl chr 2:66,153,115...66,184,289
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 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697
JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654
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 2:66,118,439...66,133,454
Ensembl chr 2:66,128,492...66,131,963
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 chr17:40,603,977...40,633,613
Ensembl chr17:40,624,844...40,625,107
JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,809,932...40,948,844
Ensembl chr17:40,774,720...40,949,022
JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,420,745...40,449,657 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 chr17:40,289,934...40,303,899 JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,625,990...40,629,523 JBrowse link
G RBL1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,201,214...40,279,318
Ensembl chr17:40,194,950...40,279,156
JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,322,364...40,378,866
Ensembl chr17:40,322,368...40,378,858
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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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 chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
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 chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
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:15955093 PMID:16817193 More... NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304
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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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 chr16:65,587,502...65,600,605
Ensembl chr16:65,590,120...65,600,566
JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517
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 chr 7:23,543,919...23,558,150
Ensembl chr 7:23,544,121...23,558,052
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:3'UTR:rs3087243(human)
CTD
RGD
PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478
JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411
JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:78,150,554...78,186,051
Ensembl chr 5:78,150,561...78,186,072
JBrowse link
G IKZF4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:21,399,858...21,427,648
Ensembl chr 5:21,400,347...21,427,647
JBrowse link
G IL18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8077705 RGD:6909137
G IL2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449 RGD:8663450 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
JBrowse link
G KDM1A lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,424...80,971,873
JBrowse link
G KDM4A lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 6:167,597,954...167,642,381
Ensembl chr 6:167,597,956...167,642,333
JBrowse link
G KDM4B lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,669...73,889,866
JBrowse link
G KDM4C lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,419...215,507,800
JBrowse link
G KDM5A lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905
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 chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922
JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
JBrowse link
G PRDX5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 2:7,798,672...7,801,955
Ensembl chr 2:7,798,670...7,802,952
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 chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G STX17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:241,657,463...241,785,270
Ensembl chr 1:241,657,506...241,765,783
JBrowse link
G ULBP1 UL16 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:16,113,774...16,119,273
Ensembl chr 1:16,113,780...16,119,273
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 chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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 chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr 2:77,694,271...77,708,099
Ensembl chr 2:77,694,266...77,708,096
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 chr 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014
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 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851
JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G ANO6 anoctamin 6 severity ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs17095830(human)
CTD
RGD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr 5:76,112,428...76,337,073
Ensembl chr 5:76,113,236...76,337,069
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469
G CRP C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 2:103,510,425...103,563,482
Ensembl chr 2:103,510,441...103,564,437
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
RGD
CTD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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 chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,715,905
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 RGD:6483530 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300
JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr12:23,952,966...23,971,495
Ensembl chr12:23,954,605...23,971,494
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:17898087 PMID:20071465 PMID:21894146 RGD:2307059 RGD:4145614 RGD:6218988 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179
JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment
ameliorates
ISO RGD PMID:19242505 PMID:21519331 RGD:151665824 RGD:7257569 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086 PMID:10712436 RGD:11352257 RGD:6902936 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752
JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
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 chr 4:88,948,357...88,956,513 JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr 6:59,214,227...59,237,860 JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614
G IL4 interleukin 4 ISO RGD PMID:9350645 PMID:17898087 RGD:2307059 RGD:2317673 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412 PMID:9032136 RGD:2308810 RGD:9698425 NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,240...87,030,364
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:9198037 PMID:22046355 RGD:6893447 RGD:7401232
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,192
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 1:271,494,243...271,624,609
Ensembl chr 1:271,494,248...271,600,920
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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 chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr14:2,103,706...2,160,886
Ensembl chr14:2,056,670...2,161,171
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 4:117,496,914...117,511,211
Ensembl chr 4:117,496,920...117,511,222
JBrowse link
G XCL1 chemokine (C motif) ligand 1 ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 4:82,432,845...82,436,150
Ensembl chr 4:82,432,204...82,436,180
JBrowse link
Anti-N-Methyl-D-Aspartate Receptor Encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFH neurofilament heavy chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
JBrowse link
G NEFL neurofilament light chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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 chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
JBrowse link
G CSF3 colony stimulating factor 3 ISO protein:increased expression:serum: RGD PMID:23087180 RGD:11039411 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:23873874 RGD:11340221 NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:12148596 RGD:8662455 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613
JBrowse link
G LTF lactotransferrin ISO RGD PMID:23201854 RGD:7243106 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G MPO myeloperoxidase disease_progression ISO RGD PMID:23085883 RGD:7174703 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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 chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:21190299 RGD:7240543 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TNF tumor necrosis factor severity ISO protein:increased expression:serum RGD PMID:19690440 RGD:7245518 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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 chr12:12,827,195...12,839,172
Ensembl chr12:12,827,201...12,839,175
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr 5:63,892,129...63,918,547
Ensembl chr 5:63,892,137...63,918,519
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:16188945 RGD:11344980 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO RGD PMID:17014014 RGD:6907402 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:16320350 RGD:1580877 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182703 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
JBrowse link
G PPBP pro-platelet basic protein ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr 8:70,021,468...70,022,490
Ensembl chr 8:70,021,439...70,023,964
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110258578 interleukin-1 beta-like ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:18550579
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 6:17,313,511...17,434,951
Ensembl chr 6:17,313,413...17,434,940
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 chr12:44,823,376...44,827,273
Ensembl chr12:44,822,780...44,827,597
JBrowse link
G ANXA5 annexin A5 ISO RGD PMID:15486486 RGD:10053691 NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
JBrowse link
G EOMES eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr13:14,209,590...14,216,184
Ensembl chr13:14,209,736...14,215,797
JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
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 chr11:78,780,013...78,785,143
Ensembl chr11:78,780,013...78,785,116
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 chr 9:102,869,044...102,875,564
Ensembl chr 9:102,868,802...102,875,576
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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G SLC14A1 solute carrier family 14 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr 1:95,354,848...95,381,492
Ensembl chr 1:95,355,016...95,381,489
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:8325343 RGD:10450476 NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208
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 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967
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:9,551,284...9,616,762
Ensembl chr  X:9,597,604...9,616,757
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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16115720 NCBI chr 1:243,127,870...243,141,504
Ensembl chr 1:243,110,585...243,141,418
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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 chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO RGD PMID:20821236 PMID:21711423 RGD:5147750 RGD:5147775 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G FAS Fas cell surface death receptor treatment ISO protein:increased expression:lymphocyte: RGD PMID:26429926 PMID:28551553 RGD:14700710 RGD:14700711 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:28551553 RGD:14700710 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO human gene in a mouse model RGD PMID:9195373 RGD:14694814 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL13 interleukin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
JBrowse link
G IL22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
JBrowse link
G IL4 interleukin 4 treatment
susceptibility
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 chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
JBrowse link
G MIR155 microRNA mir-155 treatment ISO RGD PMID:29420849 PMID:30290123 RGD:21081535 RGD:21409750 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:19781375 PMID:23869988 RGD:40818236 RGD:41412171 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO RGD PMID:20208391 RGD:9999172 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
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 chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: : RGD PMID:15683428 RGD:14402024 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270
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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,224,089...91,225,610
Ensembl chr 4:91,224,139...91,225,850
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 chr 4:89,260,354...89,269,238
Ensembl chr 4:89,260,461...89,269,244
JBrowse link
G APCS amyloid P component, serum ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,900,585...90,901,854
Ensembl chr 4:90,898,689...90,901,874
JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319
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 chr 4:89,375,486...89,394,190
Ensembl chr 4:89,375,526...89,394,244
JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,591,279...88,806,156
Ensembl chr 4:88,591,288...88,805,304
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 chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996
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 chr 4:89,278,256...89,284,407
Ensembl chr 4:89,278,439...89,284,400
JBrowse link
G C4H1orf226 chromosome 4 C1orf226 homolog ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,129,231...88,471,741
Ensembl chr 4:88,140,953...88,471,994
JBrowse link
G CADM3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,227,362...91,260,125
Ensembl chr 4:91,227,363...91,260,097
JBrowse link
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,276,752...90,288,990
Ensembl chr 4:90,276,757...90,288,250
JBrowse link
G CD244 CD244 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,668,221...89,700,974
Ensembl chr 4:89,668,239...89,700,972
JBrowse link
G CD48 CD48 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,828,923...89,844,471
Ensembl chr 4:89,828,923...89,844,484
JBrowse link
G CD84 CD84 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,932,020...89,980,476
Ensembl chr 4:89,932,229...89,969,665
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 chr 4:89,108,048...89,133,525
Ensembl chr 4:89,120,477...89,133,039
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 chr 4:90,593,864...90,626,660
Ensembl chr 4:90,593,858...90,627,800
JBrowse link
G COPA COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 More... NCBI chr 4:90,142,629...90,191,743
Ensembl chr 4:90,141,216...90,193,389
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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 chr 4:90,214,916...90,263,259
Ensembl chr 4:90,214,973...90,261,737
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 chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296
JBrowse link
G DEDD death effector domain containing ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,311,308...89,323,692
Ensembl chr 4:89,311,310...89,323,724
JBrowse link
G DUSP12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,811,565...88,818,513
Ensembl chr 4:88,809,565...88,818,411
JBrowse link
G DUSP23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,720,655...90,722,675
Ensembl chr 4:90,720,696...90,721,946
JBrowse link
G F11R F11 receptor ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,425,101...89,447,889
Ensembl chr 4:89,425,018...89,449,599
JBrowse link
G FCER1A Fc epsilon receptor Ia ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,118,867...91,125,448
Ensembl chr 4:91,118,879...91,125,437
JBrowse link
G FCER1G Fc epsilon receptor Ig ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,242,467...89,246,344
Ensembl chr 4:89,242,472...89,246,450
JBrowse link
G FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,873,762...88,892,964 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 chr 4:88,948,357...88,956,513 JBrowse link
G FCRL6 Fc receptor like 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,681,084...90,698,102
Ensembl chr 4:90,681,364...90,700,792
JBrowse link
G FCRLA Fc receptor like A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,846,054...88,855,310
Ensembl chr 4:88,845,464...88,855,293
JBrowse link
G FCRLB Fc receptor like B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,832,726...88,839,308
Ensembl chr 4:88,833,651...88,839,308
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 chr 4:88,970,592...88,973,109
Ensembl chr 4:88,970,599...88,973,918
JBrowse link
G IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,393,614...90,401,380
Ensembl chr 4:90,393,624...90,401,369
JBrowse link
G IGSF9 immunoglobulin superfamily member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,543,766...90,564,174
Ensembl chr 4:90,544,238...90,564,165
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 chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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 chr 4:90,402,042...90,412,426
Ensembl chr 4:90,397,850...90,412,373
JBrowse link
G KLHDC9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,341,650...89,344,793
Ensembl chr 4:89,341,652...89,343,857
JBrowse link
G LOC100155243 olfactory receptor 10J1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,014,301...91,016,745
Ensembl chr 4:91,015,547...91,016,509
JBrowse link
G LOC100155266 olfactory receptor 6K6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,506,266...91,513,698
Ensembl chr 4:91,508,908...91,509,867
JBrowse link
G LOC100156472 olfactory receptor 6N1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,476,621...91,501,070 JBrowse link
G LOC100157689 olfactory receptor 6N2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,482,220...91,491,942
Ensembl chr 4:91,485,019...91,491,554
JBrowse link
G LOC100517340 olfactory receptor 10J5 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,939,738...90,945,036
Ensembl chr 4:90,942,304...90,943,233
JBrowse link
G LOC100520074 olfactory receptor 10J3-like ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,111,409...91,112,410
Ensembl chr 4:91,111,347...91,112,291
JBrowse link
G LOC100522928 olfactory receptor 6K3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,541,162...91,542,957
Ensembl chr 4:91,485,068...91,543,128
JBrowse link
G LOC110260310 intelectin-2-like ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,593,630...89,604,819
Ensembl chr 4:89,500,624...89,637,483
JBrowse link
G LY9 lymphocyte antigen 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,701,806...89,728,848
Ensembl chr 4:89,701,359...89,729,855
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
JBrowse link
G NCSTN nicastrin ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890
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 chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
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 chr 4:89,356,935...89,374,358
Ensembl chr 4:89,355,407...89,374,358
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 chr 4:90,107,243...90,116,068
Ensembl chr 4:90,109,057...90,109,458
JBrowse link
G NIT1 nitrilase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,323,598...89,327,057
Ensembl chr 4:89,320,712...89,327,066
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 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101
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 chr 4:89,226,314...89,231,781
Ensembl chr 4:89,226,690...89,236,431
JBrowse link
G OLFML2B olfactomedin like 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,522,171...88,560,305
Ensembl chr 4:88,522,240...88,560,306
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 chr 4:89,186,445...89,212,852
Ensembl chr 4:89,186,447...89,213,114
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 chr 4:90,263,600...90,276,142
Ensembl chr 4:90,263,604...90,276,147
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,196,986...90,213,308
Ensembl chr 4:90,195,852...90,205,215
JBrowse link
G PFDN2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,326,781...89,341,608
Ensembl chr 4:89,326,798...89,342,325
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 chr 4:90,461,507...90,464,500 JBrowse link
G PPOX protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,277,984...89,288,946
Ensembl chr 4:89,284,500...89,288,902
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 chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118
JBrowse link
G SH2D1B SH2 domain containing 1B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,097,534...88,129,792 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 chr 4:89,870,359...89,907,114
Ensembl chr 4:89,870,539...89,908,231
JBrowse link
G SLAMF6 SLAM family member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,980,592...90,004,222
Ensembl chr 4:89,980,786...90,003,645
JBrowse link
G SLAMF7 SLAM family member 7 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,762,080...89,785,748
Ensembl chr 4:89,759,872...89,785,692
JBrowse link
G SLAMF8 SLAM family member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,661,984...90,673,044
Ensembl chr 4:90,661,985...90,672,572
JBrowse link
G SLAMF9 SLAM family member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,535,348...90,538,495
Ensembl chr 4:90,535,582...90,538,456
JBrowse link
G SPATA46 spermatogenesis associated 46 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:88,150,072...88,153,711
Ensembl chr 4:88,150,391...88,154,100
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063
JBrowse link
G TAGLN2 transgelin 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:90,566,272...90,574,762 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 chr 4:89,230,729...89,235,504
Ensembl chr 4:89,228,554...89,235,347
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 chr 4:89,401,320...89,402,741
Ensembl chr 4:89,401,159...89,403,277
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 chr 4:87,960,056...87,994,032
Ensembl chr 4:87,955,983...87,993,973
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 chr 4:89,296,281...89,311,331
Ensembl chr 4:89,296,282...89,302,941
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 chr 4:88,029,332...88,052,935
Ensembl chr 4:88,029,339...88,052,937
JBrowse link
G USF1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,395,133...89,401,048
Ensembl chr 4:89,395,482...89,401,047
JBrowse link
G USP21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 4:89,289,056...89,295,232
Ensembl chr 4:89,289,070...89,295,237
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 chr 4:90,051,994...90,080,701
Ensembl chr 4:90,051,277...90,080,635
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 chr 4:90,636,983...90,644,818
Ensembl chr 4:90,637,077...90,645,388
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 chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
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 chr14:100,747,955...100,772,412
Ensembl chr14:100,747,957...100,772,362
JBrowse link
G C9H1orf105 chromosome 9 C1orf105 homolog ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040
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 chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
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 chr 9:116,090,868...116,109,822
Ensembl chr 9:116,090,870...116,109,483
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 chr14:101,122,318...101,128,622
Ensembl chr14:101,123,398...101,125,593
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 chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627
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 chr 9:114,262,782...114,805,252
Ensembl chr 9:114,262,791...114,797,674
JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant OMIM
ClinVar
PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar
OMIM
PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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 chr14:101,193,421...101,204,292
Ensembl chr14:101,193,419...101,204,288
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 chr14:101,214,730...101,225,169
Ensembl chr14:101,214,710...101,225,164
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 chr 9:116,005,562...116,083,478
Ensembl chr 9:116,005,574...116,083,452
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 chr14:101,131,372...101,254,739
Ensembl chr14:101,126,257...101,193,614
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 chr14:100,716,038...100,748,916
Ensembl chr14:100,726,480...100,748,300
JBrowse link
G LOC100156277 lipase member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr14:100,678,863...100,710,229
Ensembl chr14:100,691,955...100,710,316
JBrowse link
G LOC100624136 ankyrin repeat domain-containing protein 45 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:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:115,868,345...115,987,710
Ensembl chr 9:115,948,210...115,987,643
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 chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368
JBrowse link
G MIR199A-1 microRNA mir-199a-1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880
JBrowse link
G MIR214 microRNA mir-214 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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 chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
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 chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413
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 chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892
JBrowse link
G RC3H1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381
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 chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201
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 chr14:100,798,096...100,859,576
Ensembl chr14:100,798,088...100,859,567
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 chr 9:114,916,957...115,007,979
Ensembl chr 9:114,916,855...115,007,972
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 chr 9:115,447,438...115,460,649
Ensembl chr 9:115,448,973...115,460,950
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 chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
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 chr 9:114,138,350...114,174,996
Ensembl chr 9:114,138,330...114,174,979
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 chr 9:116,149,234...116,179,437
Ensembl chr 9:116,149,293...116,181,689
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 chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
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 chr15:106,776,627...106,903,889
Ensembl chr15:106,776,631...106,900,333
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 chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093
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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
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 chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563
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 chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,466,799
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 chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
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 chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
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