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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 chr18:54,085,186...54,116,011
Ensembl chr18:54,100,942...54,113,424
JBrowse link
G AICDA activation induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21305519 NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
JBrowse link
G B2M beta-2-microglobulin ISO associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:17214095 PMID:21793797 RGD:6482731 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chr11:45,664,942...45,688,777
Ensembl chr11:45,666,293...45,688,780
JBrowse link
G CASP8 caspase 8 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:17880769 RGD:2311245 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO protein:increased expression:serum RGD PMID:21169727 RGD:5683913 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
JBrowse link
G CD200 CD200 molecule ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chr33:16,872,849...16,892,161
Ensembl chr33:16,873,048...16,890,954
JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:15494542 PMID:19077085 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
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:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CENPA centromere protein A ISO RGD PMID:10759786 RGD:36947376 NCBI chr17:20,808,320...20,833,747
Ensembl chr17:20,811,663...20,819,568
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COPA COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr38:21,892,995...21,936,076
Ensembl chr38:21,892,993...21,936,458
JBrowse link
G CRYAA crystallin alpha A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr31:37,307,070...37,310,262
Ensembl chr31:37,307,093...37,310,247
JBrowse link
G CRYBB2 crystallin beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr26:19,298,947...19,308,447
Ensembl chr26:19,298,863...19,308,400
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12517959 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO associated with Neutropenia
associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human)
RGD PMID:19210322 PMID:21744463 RGD:11041759 RGD:5147554 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNMT1 DNA methyltransferase 1 ISO RGD PMID:23444399 RGD:9588650 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G EGR1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G F8 coagulation factor VIII ISO CTD Direct Evidence: marker/mechanism CTD PMID:11886462 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414
JBrowse link
G FAS Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:2545777 PMID:22536412 PMID:26590112 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FBL fibrillarin ISO CTD Direct Evidence: marker/mechanism CTD PMID:8738957 PMID:9693280 PMID:19077085 NCBI chr 1:113,632,899...113,643,805
Ensembl chr 1:113,632,929...113,643,748
JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10848805 PMID:18390752 RGD:7240525 NCBI chr38:20,980,777...20,994,403 JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO DNA:missense mutation:cds:p.E160D RGD PMID:17589521 RGD:6484213 NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902
JBrowse link
G GPR132 G protein-coupled receptor 132 ISO OMIM:109100 | OMIM:607836 | OMIM:613551 MouseDO NCBI chr 8:72,478,585...72,493,165
Ensembl chr 8:72,479,905...72,493,609
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23256773 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33617879 NCBI chr24:21,473,424...21,513,673
Ensembl chr24:21,473,305...21,513,564
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human)
associated with glucoma;DNA:polymorphism: :HLA-DRB1*1502(human)
RGD PMID:16005081 PMID:21744463 RGD:5147554 RGD:7365071 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23953224 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HPX hemopexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641331 NCBI chr21:29,749,913...29,759,176
Ensembl chr21:29,719,589...29,759,046
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
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 chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:9647229 PMID:19077085 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO RGD PMID:15470078 RGD:5024943 NCBI chr10:40,614,336...40,653,300
Ensembl chr10:40,615,312...40,653,454
JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO RGD PMID:12196288 RGD:5684380 NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7871386 PMID:8898950 PMID:19077085 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19077085 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633
JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr 9:21,240,778...21,245,039 JBrowse link
G LOC481722 complement C4-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20452682 NCBI chr12:1,433,185...1,448,056 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 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO coeliac disease RGD PMID:16026592 RGD:1601087 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G RAPSN receptor associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD PMID:9668287 NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
G RBP3 retinol binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20007828 PMID:21850155 NCBI chr 4:34,974,559...34,983,460
Ensembl chr 4:34,974,638...34,982,907
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO RGD PMID:22551552 RGD:6482826 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
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 5:9,719,444...9,770,574
Ensembl chr 5:9,731,394...9,769,227
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23993977 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21850155 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038750 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:22867713 RGD:7243973 NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075
JBrowse link
G TG thyroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25055964 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24453940 NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21074606 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9766631 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
JBrowse link
G TPO thyroid peroxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869686 NCBI chr17:773,790...810,044
Ensembl chr17:773,790...810,043
JBrowse link
G TSSK1 testis specific serine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15140057 NCBI chr26:30,050,195...30,051,599 JBrowse link
acute disseminated encephalomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphism, haplotype: :
DNA:polymorphism (human)
RGD PMID:19722042 PMID:22786832 RGD:36049763 RGD:5147662 NCBI chr12:2,305,307...2,307,711 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*1501 (human)
DNA:polymorphism, haplotype: :
RGD PMID:15201511 PMID:19722042 PMID:22786832 RGD:36049763 RGD:40818409 RGD:5147662 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IFNG interferon gamma disease_progression ISO protein:increased expression:T cell: RGD PMID:11063842 RGD:8157598 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G NEFL neurofilament light chain disease_progression ISO protein:increased expresssion:serum (human) RGD PMID:31383792 RGD:127284875 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A disease_progression ISO RGD PMID:26320658 RGD:11534569 NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371
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:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO DNA:polymorphism:intron:rs8048002T>C
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18593762 RGD:5491177 NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs12917716C
CTD
RGD
PMID:18593762 RGD:5491177 NCBI chr 6:31,560,940...31,757,100
Ensembl chr 6:31,562,834...31,757,678
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:repeat (human)
DNA:polymorphism (human)
RGD PMID:12072047 PMID:20455895 RGD:5147608 RGD:5147829 NCBI chr12:2,305,307...2,307,711 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO DNA:polymorphism (human)
DNA:polymorphisms (human)
RGD PMID:19858318 PMID:21816777 RGD:5147553 RGD:5147588 NCBI chr12:2,151,409...2,164,564 JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
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 chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G ATRIP ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
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 chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167
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 chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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 chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541
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 chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:45,739,845...45,814,668 JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMIGO3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,554,028...39,557,129
Ensembl chr20:39,554,629...39,556,155
JBrowse link
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506
JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,587,316...39,596,324
Ensembl chr20:39,587,279...39,596,228
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 chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880
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 chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,601,803...39,696,831
Ensembl chr20:39,605,117...39,642,298
JBrowse link
G C20H3orf62 chromosome 20 C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754
JBrowse link
G C20H3orf84 chromosome 20 C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981
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 chr20:39,413,050...39,428,973
Ensembl chr20:39,424,519...39,427,612
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 chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416
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 chr20:39,473,450...39,482,158
Ensembl chr20:39,473,848...39,482,144
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 chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
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 chr20:40,145,239...40,148,731
Ensembl chr20:40,145,700...40,148,729
Ensembl chr20:40,145,700...40,148,729
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
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 chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697
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 chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,035,924...39,040,443
Ensembl chr20:39,038,514...39,040,368
JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365
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 chr20:39,047,573...39,053,528
Ensembl chr20:39,048,259...39,053,341
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972
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 chr20:39,469,103...39,477,169
Ensembl chr20:39,469,146...39,470,857
JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,484,487...39,550,199
Ensembl chr20:39,484,531...39,547,412
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523
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 chr20:39,053,152...39,058,467
Ensembl chr20:39,053,950...39,054,717
JBrowse link
G MIR191 microRNA mir-191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210
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 chr20:39,368,757...39,383,175
Ensembl chr20:39,378,694...39,383,175
JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908
JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588
JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,042,078...39,044,894 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 chr20:40,443,245...40,449,859
Ensembl chr20:40,442,386...40,449,542
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 chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553
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 chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,157,952...40,172,624
Ensembl chr20:40,157,952...40,172,599
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 chr20:40,556,548...40,587,036
Ensembl chr20:40,556,790...40,585,652
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 chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,086,141...40,135,810
Ensembl chr20:40,097,149...40,135,140
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 chr20:39,198,706...39,227,856
Ensembl chr20:39,199,154...39,227,769
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 chr20:39,235,301...39,359,784
Ensembl chr20:39,235,421...39,334,107
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 chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 PMID:25741914 NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,553,016...39,582,127
Ensembl chr20:39,553,059...39,579,844
JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325
JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,604,183...40,624,607
Ensembl chr20:40,601,626...40,623,601
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 chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
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 chr20:39,108,387...39,122,526
Ensembl chr20:39,109,211...39,114,849
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 chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200
JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,496,844...40,497,742
Ensembl chr20:40,496,844...40,497,742
JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,430,109...39,454,437
Ensembl chr20:39,430,489...39,453,933
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 chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
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 chr20:39,459,981...39,468,919
Ensembl chr20:39,460,216...39,468,917
JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,551,060...40,552,920 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 chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110
JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,062,802...40,074,221
Ensembl chr20:40,064,599...40,074,082
JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420
JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,148,262...40,157,770
Ensembl chr20:40,148,928...40,157,650
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 chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
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 chr18:50,787,353...50,801,036
Ensembl chr18:50,787,353...50,801,197
JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,860,273...49,865,202 JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,801,893...49,819,727
Ensembl chr18:49,802,121...49,819,713
JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,135,779...50,145,721
Ensembl chr18:50,135,792...50,145,846
JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,108,310...48,249,021
Ensembl chr18:48,108,806...48,189,471
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 chr18:51,472,966...51,476,231
Ensembl chr18:51,462,758...51,476,114
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264
JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,269,817...51,271,484
Ensembl chr18:51,269,815...51,271,690
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,816,126...50,835,354 JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,967,175...50,974,816
Ensembl chr18:50,967,270...50,974,321
JBrowse link
G C18H11orf24 chromosome 18 C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,580,495...49,590,962
Ensembl chr18:49,584,563...49,591,683
JBrowse link
G C18H11orf68 chromosome 18 C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,353,212...51,355,490 JBrowse link
G C18H11orf86 chromosome 18 C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,394,024...50,395,968
Ensembl chr18:50,394,805...50,395,812
JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949
JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,249,897...51,260,211
Ensembl chr18:51,250,039...51,260,168
JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,375,015...51,376,044
Ensembl chr18:51,375,261...51,375,866
JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,759,378...50,762,205
Ensembl chr18:50,759,436...50,762,057
JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,748,039...50,759,270
Ensembl chr18:50,748,041...50,759,191
JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,991,552...50,994,185
Ensembl chr18:50,991,585...50,994,179
JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011
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 chr18:49,969,630...49,971,781
Ensembl chr18:49,970,160...49,971,457
JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,717,512...49,784,653
Ensembl chr18:49,745,437...49,781,882
JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,084,120...50,093,825
Ensembl chr18:50,083,915...50,102,651
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 chr18:51,020,263...51,026,280
Ensembl chr18:51,021,116...51,026,273
JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,027,274...50,031,601
Ensembl chr18:50,027,275...50,050,907
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117
JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780
JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,782,326...50,787,213
Ensembl chr18:50,782,404...50,786,996
JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,381,999...51,386,277
Ensembl chr18:51,382,122...51,386,261
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,835,739...50,868,777
Ensembl chr18:50,835,735...50,868,682
JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,350,625...51,352,742
Ensembl chr18:51,350,716...51,352,977
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 chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107
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 chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315
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 chr18:51,271,850...51,276,215
Ensembl chr18:51,272,855...51,274,487
JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,087,447...48,094,497 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 chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034
JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,464,931...48,469,967
Ensembl chr18:48,464,928...48,469,782
JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,413,480...48,417,494
Ensembl chr18:48,413,187...48,416,977
JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,377,757...51,381,872
Ensembl chr18:51,377,797...51,381,808
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 chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874
JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,240,437...49,246,543
Ensembl chr18:49,240,437...49,246,950
JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,215,280...51,222,962
Ensembl chr18:51,219,156...51,222,418
JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,019,898...50,022,587
Ensembl chr18:50,020,286...50,021,695
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453
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 chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699
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 chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675
JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127
JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,035,013...51,045,629
Ensembl chr18:51,035,705...51,045,595
JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,655,783...49,691,899
Ensembl chr18:49,637,610...49,827,034
JBrowse link
G LOC611806 aldehyde dehydrogenase family 3 member B2-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,856,341...49,860,263
Ensembl chr18:49,853,737...49,859,927
JBrowse link
G LOC611847 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,101,211...50,103,045 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 chr18:50,495,971...50,499,062
Ensembl chr18:50,495,971...50,499,068
JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396
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 chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,482,212...48,490,678
Ensembl chr18:48,481,955...48,490,691
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 chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696
JBrowse link
G MRGPRD MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,028,149...49,029,198
Ensembl chr18:49,028,149...49,029,198
JBrowse link
G MRGPRF MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,006,789...49,015,080
Ensembl chr18:49,006,888...49,015,080
JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,890,411...50,893,891
Ensembl chr18:50,890,413...50,893,767
JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,090,521...49,104,052
Ensembl chr18:49,090,689...49,104,051
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 chr18:51,396,980...51,404,563
Ensembl chr18:51,396,980...51,402,534
JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979
JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434
JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,905,614...50,912,119
Ensembl chr18:50,905,611...50,911,086
JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,874,630...49,876,703 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 chr18:51,454,170...51,465,189
Ensembl chr18:51,455,107...51,464,847
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,055,487...51,196,223
Ensembl chr18:51,056,429...51,196,102
JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669
JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104
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 chr18:50,870,483...50,881,089
Ensembl chr18:50,872,426...50,879,826
JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,972,970...49,985,995
Ensembl chr18:49,974,093...49,985,909
JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,875,860...51,904,492
Ensembl chr18:51,875,903...51,904,746
JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,062,352...50,065,166
Ensembl chr18:50,062,352...50,065,166
JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,287,571...49,432,503
Ensembl chr18:49,289,044...49,385,656
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 chr18:50,031,740...50,034,200
Ensembl chr18:50,027,275...50,050,907
JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,026,975...51,034,356
Ensembl chr18:51,028,013...51,034,473
JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,065,154...50,070,582
Ensembl chr18:50,065,685...50,070,710
JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,683,227...50,728,512
Ensembl chr18:50,705,024...50,811,319
JBrowse link
G RBM4B RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,676,138...50,686,061
Ensembl chr18:50,676,162...50,685,573
JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,509,426...50,512,575
Ensembl chr18:50,509,768...50,517,543
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 chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,320,428...50,330,108
Ensembl chr18:50,321,400...50,330,103
JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,975,002...50,982,052
Ensembl chr18:50,975,814...50,980,381
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 chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541
JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,034,318...50,039,892
Ensembl chr18:50,034,364...50,040,250
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 chr18:51,297,419...51,313,804
Ensembl chr18:51,297,419...51,313,793
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885
JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094
JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,946,647...50,955,085
Ensembl chr18:50,946,724...50,954,413
JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr18:51,408,460...51,423,440
Ensembl chr18:51,408,983...51,423,410
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916
JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,126,646...50,134,799
Ensembl chr18:50,126,663...50,134,729
JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,334,779...50,358,113
Ensembl chr18:50,336,042...50,351,333
JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,055,376...50,062,166
Ensembl chr18:50,055,363...50,061,173
JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,870,618...49,873,452
Ensembl chr18:49,866,920...49,873,190
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 chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317
JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,191,265...49,232,030
Ensembl chr18:49,191,211...49,230,576
JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,827,870...51,829,746
Ensembl chr18:51,828,247...51,829,665
JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,003,556...50,008,748
Ensembl chr18:50,003,109...50,008,745
JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,008,288...51,013,091
Ensembl chr18:51,009,415...51,013,181
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 chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943
JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,956,833...48,984,499
Ensembl chr18:48,957,249...48,984,564
JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,315,150...51,323,769
Ensembl chr18:51,314,177...51,323,718
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 chr18:49,826,044...49,835,417
Ensembl chr18:49,826,026...49,882,461
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 chr18:51,015,575...51,019,909
Ensembl chr18:51,015,641...51,019,901
JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877
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 chr18:51,634,946...51,636,330
Ensembl chr18:51,634,892...51,637,087
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 chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814
JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849
JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837
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 chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167
JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223
JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880
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 chr24:26,115,356...26,125,963
Ensembl chr24:26,116,887...26,117,150
JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:26,253,884...26,415,166
Ensembl chr24:26,253,962...26,415,163
JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712
JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,921,827...25,947,363
Ensembl chr26:9,823,398...9,823,589
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 chr24:25,768,115...25,827,848
Ensembl chr24:25,770,731...25,828,080
JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:26,119,153...26,121,573
Ensembl chr24:26,118,991...26,120,906
JBrowse link
G RBL1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,698,313...25,757,358
Ensembl chr24:25,699,638...25,757,229
JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,827,524...25,884,813
Ensembl chr24:25,827,450...25,955,742
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 chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902
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 chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077
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 chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
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 chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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 chr 4:52,532,660...52,546,273 JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C27H12orf57 chromosome 27 C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910
Ensembl chr27:38,101,786...38,127,910
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 chr12:842,093...855,014
Ensembl chr12:837,993...854,978
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr27:6,941,287...6,968,370
Ensembl chr27:6,929,829...6,979,317
JBrowse link
G IKZF4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr10:332,614...360,470
Ensembl chr10:342,097...357,364
JBrowse link
G IL18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1RN interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8077705 RGD:6909137 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449 RGD:8663450 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
JBrowse link
G KDM1A lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632
JBrowse link
G KDM4A lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr15:16,521,760...16,570,965
Ensembl chr15:16,521,700...16,571,000
JBrowse link
G KDM4B lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816
JBrowse link
G KDM4C lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801
JBrowse link
G KDM5A lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr27:42,364,606...42,447,839
Ensembl chr27:42,360,456...42,447,821
JBrowse link
G LOC100683099 UL16-binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:40,635,616...40,639,865 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 chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350
JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G PRDX5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr18:52,750,977...52,754,432 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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G STX17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr11:56,885,874...56,951,714
Ensembl chr11:56,885,174...56,945,767
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 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
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 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226
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 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:25741868 NCBI chr20:57,908,327...57,920,016
Ensembl chr20:57,908,351...57,920,027
JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134
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 chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660
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 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ANO6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr27:8,882,691...9,067,057
Ensembl chr27:8,884,062...9,066,934
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 1:98,881,610...98,905,641
Ensembl chr 1:98,881,690...98,904,945
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591
JBrowse link
G CRP C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA88 MHC class I DLA-88 susceptibility
no_association
ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B2705 (human)
RGD
CTD
PMID:8053961 PMID:8733445 PMID:21743469 PMID:21927904 PMID:22138694 RGD:10755579 RGD:7364914 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690
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 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 3:12,780,084...12,819,795
Ensembl chr 3:12,781,849...12,817,025
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113
JBrowse link
G IL23R interleukin 23 receptor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs,haplotype:multiple:
DNA:SNP: :rs11209026(human)
CTD
RGD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576
JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
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 chr27:42,364,606...42,447,839
Ensembl chr27:42,360,456...42,447,821
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 RGD:6483530 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:24,040,484...24,055,038
Ensembl chr 9:24,039,766...24,042,034
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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 chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO protein:increased expression:kidney RGD PMID:21282555 RGD:5129185 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA, protein:increased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO mRNA, protein:decreased expression:kidney RGD PMID:12234300 RGD:1579984 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO mRNA:increased expression:glomerulus RGD PMID:20071465 RGD:4145614 NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO mRNA:increased expression:glomerulus RGD PMID:17898087 PMID:20071465 PMID:21894146 RGD:2307059 RGD:4145614 RGD:6218988 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:glomerulus RGD PMID:12651599 RGD:2306306 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:glomerulus RGD PMID:17898087 RGD:2307059 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CD274 CD274 molecule treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
JBrowse link
G CD40 CD40 molecule ISO RGD PMID:15210767 RGD:7248442 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:15458437 RGD:5508170 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10712436 RGD:6902936 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CFB complement factor B ISO RGD PMID:22492944 RGD:7242700 NCBI chr12:1,400,143...1,406,267 JBrowse link
G CLU clusterin ISO protein:increased expression:urine RGD PMID:23791361 RGD:9068422 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G CSF1 colony stimulating factor 1 treatment ISO RGD PMID:19242505 RGD:7257569 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment
ameliorates
ISO RGD PMID:19242505 PMID:21519331 RGD:151665824 RGD:7257569 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:8206086 PMID:10712436 RGD:11352257 RGD:6902936 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:glomerulus RGD PMID:19590241 RGD:4891946 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
JBrowse link
G CXCL12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:glomerulus RGD PMID:17557270 RGD:2306579 NCBI chr28:2,895,916...2,903,543 JBrowse link
G DUSP1 dual specificity phosphatase 1 ISO mRNA:increased expression:glomerulus RGD PMID:8587253 RGD:633769 NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
JBrowse link
G GP6 glycoprotein VI platelet ISO RGD PMID:20651232 RGD:7242710 NCBI chr 1:102,586,229...102,612,067
Ensembl chr 1:102,585,544...102,613,905
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism (human) RGD PMID:21569485 RGD:5147561 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:23826305 RGD:7365004 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:22046355 RGD:6893447 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:kidney (mouse)
mRNA, protein:increased expression:kidney
RGD PMID:9198037 PMID:22046355 RGD:6893447 RGD:7401232 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:20071465 RGD:4145614 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL4 interleukin 4 ISO RGD PMID:9350645 PMID:17898087 RGD:2307059 RGD:2317673 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:7679412 PMID:9032136 RGD:2308810 RGD:9698425 NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III no_association ISO DNA:polymorphism:exon:(rs396991)(human)
DNA:cnv: :
RGD PMID:19640933 PMID:19946017 RGD:5508400 RGD:5508403 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC490356 lymphotactin ISO mRNA:increased expression:glomerulus RGD PMID:9717977 RGD:8693304 NCBI chr 7:29,986,433...29,991,096 JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO RGD PMID:21894146 RGD:6218988 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21894146 RGD:6218988 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10780884 RGD:1642011
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO mRNA:increased expression:kidney, macrophage RGD PMID:10878552 RGD:2314954 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:21894146 RGD:6218988 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G NPPB natriuretic peptide B ISO RGD PMID:11729234 RGD:7248605 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:21965585 RGD:7248671 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO RGD PMID:17888025 RGD:5563035 NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO protein:increased expression:glomerulus RGD PMID:11774117 RGD:729912 NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO protein:increased expression:renal glomerulus RGD PMID:18784646 RGD:11534983 NCBI chr 9:52,429,204...52,566,775
Ensembl chr 9:52,450,597...52,563,778
JBrowse link
G SELP selectin P ISO RGD PMID:21894146 RGD:6218988 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
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 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657
JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:decreased expression:kidney, glomerulus RGD PMID:15215188 RGD:2316132 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:20504883 RGD:6903276 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
JBrowse link
G SYK spleen associated tyrosine kinase ISO RGD PMID:21894146 RGD:6218988 NCBI chr 1:95,903,501...95,955,577
Ensembl chr 1:95,903,566...95,955,583
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:21894146 RGD:6218988 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:urine, serum: RGD PMID:23460853 RGD:7241232 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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 chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
G NEFL neurofilament light chain treatment ISO RGD PMID:31313506 RGD:27226816 NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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 chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
JBrowse link
G CSF3 colony stimulating factor 3 ISO protein:increased expression:serum: RGD PMID:23087180 RGD:11039411 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:23873874 RGD:11340221 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:12148596 RGD:8662455 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
JBrowse link
G LTF lactotransferrin ISO RGD PMID:23201854 RGD:7243106 NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MPO myeloperoxidase disease_progression ISO RGD PMID:23085883 RGD:7174703 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:21190299 RGD:7240543 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TNF tumor necrosis factor severity ISO protein:increased expression:serum RGD PMID:19690440 RGD:7245518 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
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 chr 9:14,082,648...14,095,186
Ensembl chr 9:14,082,541...14,095,185
JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771
JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:16188945 RGD:11344980 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CRP C-reactive protein ISO RGD PMID:17014014 RGD:6907402 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphisms: :multiple (human) RGD PMID:11157139 RGD:5147862 NCBI chr12:2,305,307...2,307,711 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO DNA:polymorphisms (human) RGD PMID:11157139 RGD:5147862 NCBI chr12:2,151,409...2,164,564 JBrowse link
G PLAT plasminogen activator, tissue type ISO RGD PMID:16320350 RGD:1580877 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182703 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr13:62,526,571...62,528,527
Ensembl chr13:62,526,571...62,528,527
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
antisynthetase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta ISO ClinVar Annotator: match by term: Antisynthetase syndrome ClinVar PMID:18550579 PMID:25741868 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
autoimmune disease of gastrointestinal tract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFAT5 nuclear factor of activated T cells 5 ISO ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy ClinVar PMID:28492532 NCBI chr 5:79,995,292...80,115,116
Ensembl chr 5:80,003,587...80,115,096
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 chr 9:42,778,637...42,782,950
Ensembl chr 9:42,778,637...42,782,479
JBrowse link
G ANXA5 annexin A5 ISO RGD PMID:15486486 RGD:10053691 NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
JBrowse link
G EOMES eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27742544 NCBI chr23:16,476,498...16,512,406
Ensembl chr23:16,506,032...16,511,527
JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: therapeutic CTD PMID:23595028 NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149
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 chr22:60,898,801...60,904,223
Ensembl chr22:60,898,833...60,904,223
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 chr18:17,328,794...17,335,429
Ensembl chr18:17,331,780...17,335,401
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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G SLC14A1 solute carrier family 14 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr 7:45,378,744...45,409,068
Ensembl chr 7:45,380,239...45,408,829
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:8325343 RGD:10450476 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
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 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
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:9,381,159...9,399,938 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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16115720 NCBI chr11:58,150,621...58,166,266
Ensembl chr11:58,150,967...58,176,319
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G C1S complement C1s ISO CTD Direct Evidence: marker/mechanism CTD PMID:11390518 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 ISO protein:increased expression:serum: RGD PMID:3186722 PMID:10435724 RGD:11353781 RGD:7207226 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphism (human) RGD PMID:17050030 PMID:20007077 RGD:5147584 RGD:5147634 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DNASE1 deoxyribonuclease 1 ISO protein:decreased activity:serum (human) RGD PMID:28263100 RGD:38500241 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO RGD PMID:20821236 PMID:21711423 RGD:5147750 RGD:5147775 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:28551553 RGD:14700710 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism (human)
DNA:polymorphisms: :multiple (human)
RGD PMID:10573514 PMID:11182227 PMID:15763345 PMID:17050030 RGD:5147634 RGD:5147652 RGD:5147810 RGD:5147856 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO human gene in a mouse model RGD PMID:9195373 RGD:14694814 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL13 interleukin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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 chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL21 interleukin 21 exacerbates ISO protein:increased expression:blood serum, peripheral blood mononuclear cell (human) RGD PMID:27386263 RGD:127285554 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
JBrowse link
G IL22 interleukin 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr10:10,487,367...10,492,238
Ensembl chr10:10,487,262...10,492,371
JBrowse link
G IL4 interleukin 4 susceptibility
treatment
ISO DNA:SNPs:promoter:-590C>T,-33T>C (human)
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21227906 PMID:26735262 PMID:30034292 RGD:14696677 RGD:14696683 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL5 interleukin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G IL9 interleukin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr11:23,808,919...23,814,085
Ensembl chr11:23,811,117...23,814,079
JBrowse link
G LEP leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21227906 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
JBrowse link
G MIR155 microRNA mir-155 treatment ISO RGD PMID:29420849 PMID:30290123 RGD:21081535 RGD:21409750 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MIR223 microRNA mir-223 treatment ISO RGD PMID:29145157 PMID:31826604 RGD:21408546 RGD:21408563 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233
JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:19781375 PMID:23869988 RGD:40818236 RGD:41412171 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO RGD PMID:19781375 RGD:41412171 NCBI chr 1:93,631,676...93,698,560
Ensembl chr 1:93,631,979...93,689,266
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO RGD PMID:20208391 RGD:9999172 NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397
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 chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum (human) RGD PMID:9047083 RGD:14995307 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:polymorphism: : RGD PMID:15683428 RGD:14402024 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:plasma: RGD PMID:26615570 RGD:11538286 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:blood serum (human) RGD PMID:20534899 RGD:151361169 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033
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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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 chr38:22,762,584...22,765,330
Ensembl chr38:22,758,013...22,763,958
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 chr38:21,283,555...21,292,432
Ensembl chr38:21,284,330...21,292,437
JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,263,641...21,265,887
Ensembl chr38:21,262,789...21,265,887
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 chr38:21,395,102...21,412,047
Ensembl chr38:21,395,373...21,412,047
JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604
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 chr38:21,301,835...21,306,854
Ensembl chr38:21,302,003...21,312,958
JBrowse link
G CADM3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,765,479...22,782,162
Ensembl chr38:22,766,698...22,797,072
JBrowse link
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,012,060...22,020,430
Ensembl chr38:22,011,060...22,020,383
JBrowse link
G CD244 CD244 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,495,649...21,522,656
Ensembl chr38:21,495,720...21,517,043
JBrowse link
G CD48 CD48 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,612,401...21,628,223
Ensembl chr38:21,566,748...21,628,219
JBrowse link
G CD84 CD84 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,702,788...21,727,373
Ensembl chr38:21,702,494...21,759,668
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 chr38:21,158,212...21,176,889
Ensembl chr38:21,158,108...21,161,261
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 chr38:22,245,879...22,269,363
Ensembl chr38:22,254,472...22,269,322
JBrowse link
G COPA COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 More... NCBI chr38:21,892,995...21,936,076
Ensembl chr38:21,892,993...21,936,458
JBrowse link
G CRP C-reactive protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
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 chr38:21,959,228...22,001,388
Ensembl chr38:21,959,254...21,999,677
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 chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275
JBrowse link
G DEDD death effector domain containing ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,341,101...21,351,665
Ensembl chr38:21,342,534...21,351,972
JBrowse link
G DUSP12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,912,543...20,921,137
Ensembl chr38:20,912,546...20,921,125
JBrowse link
G DUSP23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,341,052...22,344,861 JBrowse link
G F11R F11 receptor ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,433,819...21,456,722
Ensembl chr38:21,451,952...21,454,959
JBrowse link
G FCER1A Fc epsilon receptor Ia ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,683,478...22,688,842
Ensembl chr38:22,683,477...22,690,763
JBrowse link
G FCER1G Fc epsilon receptor Ig ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,267,841...21,271,036
Ensembl chr38:21,268,001...21,270,940
JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,980,777...20,994,403 JBrowse link
G FCRL6 Fc receptor like 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,311,454...22,320,105 JBrowse link
G FCRLA Fc receptor like A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,955,955...20,962,646
Ensembl chr38:20,955,944...20,962,646
JBrowse link
G FCRLB Fc receptor like B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,943,351...20,950,836 JBrowse link
G IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,093,463...22,100,009
Ensembl chr38:22,062,591...22,100,020
JBrowse link
G IGSF9 immunoglobulin superfamily member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,207,323...22,222,832
Ensembl chr38:22,206,660...22,222,823
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 chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
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 chr38:22,100,627...22,104,165
Ensembl chr38:22,100,621...22,104,167
JBrowse link
G KLHDC9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,367,825...21,370,347
Ensembl chr38:21,366,194...21,370,328
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,054,870...21,060,948 JBrowse link
G LOC488617 olfactory receptor 6K6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:23,004,360...23,004,839 JBrowse link
G LOC488622 myeloid cell nuclear differentiation antigen ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,874,345...22,892,362 JBrowse link
G LOC607515 olfactory receptor 6K3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532
G LY9 lymphocyte antigen 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,522,898...21,554,652
Ensembl chr38:21,523,637...21,554,579
JBrowse link
G MNDA myeloid cell nuclear differentiation antigen ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,921,729...22,934,276
Ensembl chr38:22,921,732...22,934,286
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G NCSTN nicastrin ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,878,071...21,891,362
Ensembl chr38:21,685,868...21,892,097
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 chr38:21,271,603...21,281,140
Ensembl chr38:21,271,675...21,285,279
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 chr38:21,378,144...21,392,419
Ensembl chr38:21,375,556...21,392,632
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 chr38:21,867,603...21,868,942 JBrowse link
G NIT1 nitrilase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,352,236...21,355,636
Ensembl chr38:21,348,486...21,356,260
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 1:103,571,756...103,605,692 JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,353,341...20,614,684 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 chr38:21,252,874...21,257,951
Ensembl chr38:21,253,089...21,258,827
JBrowse link
G OLFML2B olfactomedin like 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,651,107...20,693,625
Ensembl chr38:20,658,158...20,693,250
JBrowse link
G OR10J14 olfactory receptor family 10 subfamily J member 14 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,471,969...22,473,711 JBrowse link
G OR10J5 olfactory receptor 10J5 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,531,375...22,679,635
Ensembl chr38:22,531,375...22,678,591
JBrowse link
G OR6K2 olfactory receptor family 6 subfamily K member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:23,042,900...23,045,240
Ensembl chr38:23,043,721...23,044,686
JBrowse link
G OR6N1 olfactory receptor family 6 subfamily N member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,993,596...22,994,546
Ensembl chr38:22,993,596...22,994,546
JBrowse link
G OR6N2 olfactory receptor family 6 subfamily N member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,982,050...22,983,003
Ensembl chr38:22,982,050...22,983,003
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 chr38:21,221,334...21,242,578
Ensembl chr38:21,222,253...21,243,195
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 chr38:22,001,702...22,004,728
Ensembl chr38:22,003,143...22,198,158
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,939,054...21,945,281
Ensembl chr38:21,939,018...21,944,602
JBrowse link
G PFDN2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,355,622...21,367,623
Ensembl chr38:21,355,678...21,367,619
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 chr38:22,150,006...22,151,589 JBrowse link
G PPOX protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,306,973...21,310,892
Ensembl chr38:21,306,974...21,311,012
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 chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
G SH2D1B SH2 domain containing 1B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,303,987...20,326,065
Ensembl chr38:20,303,709...20,321,761
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 chr38:21,653,801...21,685,408
Ensembl chr38:21,653,487...21,685,408
JBrowse link
G SLAMF6 SLAM family member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,742,228...21,769,521
Ensembl chr38:21,742,301...21,764,494
JBrowse link
G SLAMF7 SLAM family member 7 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,580,583...21,596,367
Ensembl chr38:21,581,439...21,596,348
JBrowse link
G SLAMF8 SLAM family member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,299,455...22,307,090
Ensembl chr38:22,300,128...22,307,096
JBrowse link
G SLAMF9 SLAM family member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,199,752...22,202,299
Ensembl chr38:22,199,494...22,202,299
JBrowse link
G SPATA46 spermatogenesis associated 46 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:20,344,580...20,346,813
Ensembl chr38:20,303,709...20,346,812
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G TAGLN2 transgelin 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:22,224,223...22,230,292
Ensembl chr38:22,225,133...22,229,766
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 chr38:21,257,022...21,261,881
Ensembl chr38:21,257,006...21,261,356
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 chr38:21,419,306...21,421,428
Ensembl chr38:21,419,346...21,421,427
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 chr38:20,190,026...20,228,353
Ensembl chr38:20,190,375...20,277,923
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 chr38:21,319,039...21,339,524
Ensembl chr38:21,319,054...21,340,211
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 chr38:20,247,564...20,277,941
Ensembl chr38:20,190,375...20,277,923
JBrowse link
G USF1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,412,943...21,419,072
Ensembl chr38:21,413,050...21,418,569
JBrowse link
G USP21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr38:21,311,859...21,318,414
Ensembl chr38:21,311,859...21,320,106
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 chr38:21,822,873...21,824,537 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 chr38:22,278,668...22,285,444
Ensembl chr38:22,278,807...22,285,444
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 chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
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 chr26:38,623,133...38,645,522
Ensembl chr26:38,623,214...38,644,170
JBrowse link
G ANKRD45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,508,417...25,560,123
Ensembl chr 7:25,508,239...25,659,475
JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,490,012...26,561,542 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 chr37:10,315,867...10,350,585 JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
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 7:25,406,881...25,430,084
Ensembl chr 7:25,407,183...25,423,219
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 chr26:38,884,356...38,885,728 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 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
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 7:26,569,708...27,024,939
Ensembl chr 7:26,574,453...27,024,759
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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 4:63,020...71,734
Ensembl chr 4:62,801...69,868
JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr 4:87,987...105,879
Ensembl chr 4:84,720...117,210
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 7:25,430,490...25,484,245
Ensembl chr 7:25,430,745...25,484,311
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 chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
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 chr26:38,608,237...38,622,521 JBrowse link
G LIPN lipase family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr26:38,573,408...38,588,171 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 7:27,159,425...27,175,144 JBrowse link
G MIR199-2 microRNA mir-199-2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:26,812,766...26,812,824
Ensembl chr 7:26,812,735...26,812,838
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 7:26,818,559...26,818,668
Ensembl chr 7:26,818,559...26,818,670
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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 7:27,335,314...27,346,821
Ensembl chr 7:27,335,314...27,346,820
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417
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 7:25,663,238...25,675,855
Ensembl chr 7:25,663,579...25,675,754
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 7:25,265,836...25,312,417
Ensembl chr 7:25,233,235...25,305,174
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 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987
JBrowse link
G SLC9C2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 7:25,553,745...25,659,461
Ensembl chr 7:25,508,239...25,659,475
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 chr26:38,665,418...38,693,776
Ensembl chr26:38,666,915...38,693,776
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 7:26,375,414...26,410,001
Ensembl chr 7:26,376,990...26,464,125
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 7:25,983,064...25,994,605
Ensembl chr 7:25,963,719...25,992,801
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 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
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 7:27,278,200...27,303,499
Ensembl chr 7:27,278,231...27,302,225
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 7:25,333,540...25,362,098
Ensembl chr 7:25,349,786...25,361,439
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