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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 of musculoskeletal system
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Accession:DOID:0060032 term browser browse the term
Definition:An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO)



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adult-onset Still's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 ISS OMIM:104000 | OMIM:610753 MouseDO NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:128,923,918...128,961,926
Ensembl chr 7:128,923,920...128,962,072
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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 chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 severity ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16829308 RGD:6484734 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Raet1l retinoic acid early transcript 1L ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:1,979,433...1,984,410
Ensembl chr 1:1,979,443...1,984,410
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451
JBrowse link
Amyopathic Dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: :HLA-DQA1*0501;
DNA:polymorphism (human)
RGD PMID:18671865 PMID:8666549 PMID:15067086 RGD:5147790, RGD:8547569, RGD:5147796 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
JBrowse link
G Fcgr3a Fc gamma receptor 3A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
CTD
RGD
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kdm5a lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G RT1-Ba RT1 class II, locus Ba severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914 NCBI chr20:3,314,830...3,318,106 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-M5 RT1 class Ib, locus M5 no_association ISO DNA:polymorphisms:cds:HLA-B2705 (human) RGD PMID:21927904 RGD:10755579 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:82,120,558...82,135,749
Ensembl chr10:82,120,564...82,134,352
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
JBrowse link
bullous pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:blister, serum (human) RGD PMID:21881593 RGD:11087555 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
C1q Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More... NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1Q deficiency ClinVar PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More... NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
C1q Deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: C1Q deficiency 1 OMIM
ClinVar
PMID:25741868 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
C1q Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1Q deficiency 2 OMIM
ClinVar
PMID:2894352 PMID:24160257 PMID:25741868 NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407
JBrowse link
C1q Deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1Q deficiency 3 OMIM
ClinVar
PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532 NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017
JBrowse link
Chilblain lupus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Chilblain lupus ClinVar PMID:16960810 PMID:17357087 PMID:17440703 PMID:18805785 PMID:20799324 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
Chilblain Lupus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Chilblain lupus 1 ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chilblain lupus 1
CTD
OMIM
ClinVar
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
Chilblain Lupus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition OMIM
ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
JBrowse link
cicatricial pemphigoid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)
DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD PMID:9683867 PMID:9008223 RGD:7365096, RGD:7483589 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*1101, DRB1*0701(human)
DNA:polymorphism: :HLA-DRB1*04(human)
RGD PMID:9683867 PMID:8052655 RGD:7365096, RGD:7365103 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
congenital myasthenic syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase susceptibility ISO
ISS
DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM:254210
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
cutaneous lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:21844117 RGD:6892918 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:18981160 RGD:7257572 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Trex1 three prime repair exonuclease 1 ISS MouseDO NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
dermatitis herpetiformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:8256113 RGD:9585750 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
dermatomyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl2 angiopoietin-like 2 ISS MouseDO NCBI chr 3:16,517,185...16,547,024
Ensembl chr 3:16,517,420...16,548,178
JBrowse link
G C2 complement C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cd36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:17899683 RGD:5685006 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
diffuse scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing severity ISO protein:decreased expression:serum RGD PMID:21615510 RGD:8694418 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) RGD PMID:19815934 RGD:9684975 NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G Cav1 caveolin 1 susceptibility
no_association
ISO DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human)
DNA:SNPs:enhancer, intron:multiple
RGD PMID:22402147 PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO RGD PMID:18432520 RGD:5135258 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:missense mutation:cds:p.F196S (rs1059702) (human) RGD PMID:21898345 RGD:7495782 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:introns: (rs7574865, rs10168266) (human)
DNA:SNP:intron: (rs7574865) (human)
DNA:SNP:intron: (rs3821236) (human)
RGD PMID:23755762 PMID:19286670 PMID:23755762 RGD:8661701, RGD:8661714, RGD:8661701 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tlr2 toll-like receptor 2 disease_progression ISO DNA:polymorphism:cds:p.P631H(rs5743704)(human) RGD PMID:21905008 RGD:8553044 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
JBrowse link
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly
OMIM
CTD
ClinVar
PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
disabling pansclerotic morphea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood | ClinVar Annotator: match by term: STAT4-related condition ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:37256972 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
Discoid Lupus Erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:20701627 RGD:7421565 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Nat2 N-acetyltransferase 2 treatment ISO DNA:polymorphisms: : RGD PMID:9170150 RGD:8552671 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33072095 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: :HLA-DQA1*0102 RGD PMID:7883595 RGD:8547567 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
Experimental Autoimmune Myasthenia Gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc5 actin related protein 2/3 complex, subunit 5 treatment IEP RGD PMID:17997938 RGD:11049469 NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
JBrowse link
G C3 complement C3 ISO
IEP
RGD PMID:17962462 PMID:147324 RGD:7401263, RGD:11040804 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C6 complement C6 susceptibility IAGP RGD PMID:17034580 RGD:1600670 NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275
JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11359850 RGD:8547800 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cfb complement factor B treatment IMP RGD PMID:25355917 RGD:11041161 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP
IEP
RGD PMID:19232748 PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 IEP RGD PMID:15843529 RGD:1598501 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IEP
IMP
RGD PMID:15843529 PMID:19232748 RGD:1598501, RGD:2311364 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
JBrowse link
G Il23r interleukin 23 receptor IEP mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:18250419 RGD:2325986 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il4r interleukin 4 receptor IEP protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Musk muscle associated receptor tyrosine kinase IDA RGD PMID:17081697 RGD:2317084 NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Myog myogenin IEP RGD PMID:1312030 RGD:9686077 NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039
JBrowse link
G Rapsn receptor-associated protein of the synapse IEP protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
fibromyalgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:decreased activity:mononuclear cell: RGD PMID:22532869 RGD:9479066 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:decreased expression:plasma RGD PMID:19924498 RGD:14995946 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Comt catechol-O-methyltransferase severity ISO DNA:polymorphism:cds:p.V158M(human) RGD PMID:24762091 RGD:13450944 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO protein:increased expression:serum (human) RGD PMID:10341365 RGD:8549787 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
Hailey-Hailey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Familial benign pemphigus
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 More... NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
JBrowse link
Hand Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:SNPs:exons: (rs2077647, rs1801132) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Il4 interleukin 4 no_association ISO DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 More... NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
JBrowse link
Juvenile Pauciarticular Chronic Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human) RGD PMID:7955632 RGD:7365102 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
juvenile rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp3 acid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
JBrowse link
G Acrbp acrosin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
JBrowse link
G Adcy7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Aqp9 aquaporin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:95,786,130...96,093,111
Ensembl chr 7:95,787,818...96,092,754
JBrowse link
G Avl9 AVL9 cell migration associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:85,961,493...86,008,347
Ensembl chr 4:85,961,635...86,008,791
JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074
JBrowse link
G Bend2 BEN domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:33,401,122...33,465,427 JBrowse link
G Bltp3b bridge-like lipid transfer protein family member 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:24,181,635...24,261,720
Ensembl chr 7:24,181,644...24,261,720
JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:17,030,156...17,046,069
Ensembl chr11:17,030,160...17,046,170
JBrowse link
G C8b complement C8 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:7980680 NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
JBrowse link
G C9h2orf88 similar to human chromosome 2 open reading frame 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831
JBrowse link
G Cald1 caldesmon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: JUVENILE ARTHRITIS ClinVar PMID:25741868 NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
DNA:polymorphisms: :multiple (human)
RGD PMID:17565662 PMID:16775617 RGD:1626283, RGD:1626284 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd83 CD83 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
JBrowse link
G Cd8b CD8 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:103,312,596...103,328,523
Ensembl chr 4:103,312,578...103,328,553
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator susceptibility
no_association
ISO DNA:polymorphism:exon:1614G>C (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
RGD PMID:17661914 PMID:16426246 RGD:5491187, RGD:5491189 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:640,838...651,872
Ensembl chr19:640,824...651,939
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:54,238,889...54,305,989
Ensembl chr17:54,239,030...54,305,989
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum RGD PMID:22885951 RGD:6906884 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cttn cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 PMID:26387944 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Dusp2 dual specificity phosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:114,556,325...114,558,510
Ensembl chr 3:114,556,325...114,558,499
JBrowse link
G Dusp4 dual specificity phosphatase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:57,376,659...57,398,161
Ensembl chr16:57,377,229...57,398,138
JBrowse link
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Elf2 E74 like ETS transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947
JBrowse link
G Etnk1 ethanolamine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:176,126,180...176,193,770
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
JBrowse link
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
JBrowse link
G Faxdc2 fatty acid hydroxylase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:42,245,808...42,271,679
Ensembl chr10:42,246,868...42,271,871
JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115
JBrowse link
G Gmpr guanosine monophosphate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:19,151,820...19,189,626
Ensembl chr17:19,151,815...19,189,621
JBrowse link
G Gng11 G protein subunit gamma 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:32,023,003...32,028,443
Ensembl chr 4:32,023,003...32,028,442
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:18328165 RGD:5490992 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H2bc8 H2B clustered histone 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:42,708,658...42,709,408 JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
JBrowse link
G Herpud2 HERPUD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:23,573,374...23,618,380
Ensembl chr 8:23,573,379...23,617,874
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:16047841 RGD:8694357 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hist1h2af histone cluster 1 H2A family member F ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:41,379,404...41,379,796
Ensembl chr17:41,379,404...41,379,796
JBrowse link
G Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr13:83,273,176...83,274,317 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum,synovial fluid: RGD PMID:8255671 RGD:12910480 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:mononuclear cell RGD PMID:21859687 RGD:5147870 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:9489833 RGD:7829742 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
JBrowse link
G Itgb5 integrin subunit beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
G Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:34,577,397...34,621,725
Ensembl chr11:34,577,363...34,621,952
JBrowse link
G Klf4 KLF transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:70,278,843...70,283,751
Ensembl chr 5:70,278,972...70,283,602
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: JUVENILE ARTHRITIS OMIM
ClinVar
PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 More... NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545
JBrowse link
G Lilra5 leukocyte immunoglobulin like receptor A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:69,973,292...69,978,750
Ensembl chr 1:69,973,292...70,001,718
JBrowse link
G Lpp LIM domain containing preferred translocation partner in lipoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:75,787,326...76,426,646
Ensembl chr11:75,797,078...76,422,597
JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
JBrowse link
G Maff MAF bZIP transcription factor F ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851
JBrowse link
G Maml2 mastermind-like transcriptional coactivator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:10,268,611...10,588,307
Ensembl chr 8:10,268,665...10,587,107
JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Mbl2 mannose binding lectin 2 ISO RGD PMID:18334024 RGD:12910845 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:67,167,600...67,188,595
Ensembl chr18:67,166,718...67,188,595
JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119
JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628
JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968
JBrowse link
G Myzap myocardial zonula adherens protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
JBrowse link
G Ndel1 nudE neurodevelopment protein 1-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:53,505,628...53,582,025
Ensembl chr10:53,516,491...53,570,907
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:162,926,436...162,949,057
Ensembl chr 4:162,926,439...162,948,523
JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:79,103,638...79,108,500
Ensembl chr14:79,104,344...79,108,313
JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546
JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:58,378,090...58,471,623
Ensembl chr  X:58,378,116...58,468,935
JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
JBrowse link
G Pgm5 phosphoglucomutase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:222,325,638...222,513,434
Ensembl chr 1:222,325,643...222,513,437
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Plk2 polo-like kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:41,969,176...41,974,945
Ensembl chr 2:41,969,176...41,974,947
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp : cds : rs2476601 RGD PMID:15934099 RGD:6484550 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G R3hdm2 R3H domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
JBrowse link
G Rasgef1b RasGEF domain family, member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:9,859,512...10,380,044
Ensembl chr14:9,860,247...10,379,741
JBrowse link
G Rbm47 RNA binding motif protein 47 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
JBrowse link
G Rhobtb1 Rho-related BTB domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:19,327,142...19,456,121
Ensembl chr20:19,327,155...19,403,012
JBrowse link
G Rnf103 ring finger protein 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:103,526,456...103,542,529
Ensembl chr 4:103,526,502...103,555,919
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:19811310 PMID:10457895 RGD:5147815, RGD:5147863 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:10457895 RGD:5147863 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:19908388 PMID:10457895 RGD:5147587, RGD:5147863 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Selp selectin P severity ISO protein:increased expression:plasma RGD PMID:21124648 RGD:6219006 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO RGD PMID:15129233 RGD:2298870 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
JBrowse link
G Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:84,461,019...84,553,124
Ensembl chr 8:84,461,121...84,551,564
JBrowse link
G Sik1 salt-inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
JBrowse link
G Sipa1l1 signal-induced proliferation-associated 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:101,839,351...102,118,408
Ensembl chr 6:101,839,404...102,116,950
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16597321 PMID:10857800 RGD:5684977 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc22a16 solute carrier family 22 member 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:43,972,808...44,068,447
Ensembl chr20:43,972,836...44,065,019
JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:SNPs: : RGD PMID:17393463 RGD:13208931 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Stab1 stabilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stim1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967
JBrowse link
G Tfdp1 transcription factor Dp-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:15209962 RGD:5685023 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:36,502,250...36,521,652
Ensembl chr 3:36,502,188...36,521,649
JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517
JBrowse link
G Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:198,840,452...198,860,713
Ensembl chr 1:198,840,453...198,856,309
JBrowse link
G Tnik TRAF2 and NCK interacting kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750
JBrowse link
G Treml1 triggering receptor expressed on myeloid cells-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:12,635,584...12,642,324
Ensembl chr 9:12,635,590...12,642,347
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
JBrowse link
G Ube2e1 ubiquitin-conjugating enzyme E2E 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:7,439,751...7,493,410
Ensembl chr15:7,439,759...7,493,400
JBrowse link
G Ube3c ubiquitin protein ligase E3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:5,648,932...5,749,922
Ensembl chr 4:5,648,690...5,750,011
JBrowse link
G Wasf3 WASP family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:8,563,805...8,660,799
Ensembl chr12:8,562,062...8,660,751
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
JBrowse link
G Zfand3 zinc finger AN1-type containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:8,083,407...8,279,617
Ensembl chr20:8,082,200...8,279,616
JBrowse link
G Zfc3h1 zinc finger, C3H1-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661
JBrowse link
Knee Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa2 annexin A2 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
JBrowse link
G Anxa5 annexin A5 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Ar androgen receptor ISO DNA:repeat:exon:c.172(CAG)8-34 (human) RGD PMID:16098017 RGD:10043199 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Aspn asporin severity ISO mRNA:increased expression:cartilage:
DNA:repeats:exon:
RGD PMID:15640800 PMID:15640800 RGD:9684965, RGD:9684965 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:serum RGD PMID:18795399 RGD:6482710 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO
IDA
RGD PMID:22294259 PMID:21387139 RGD:6483563, RGD:6483595 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:dorsal root ganglion: RGD PMID:23185004 RGD:8661785 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cd36 CD36 molecule disease_progression ISO
IEP
RGD PMID:21765106 PMID:19342682 RGD:6893494, RGD:6893565 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Ctnnb1 catenin beta 1 IEP protein:increased expression:cartilage: RGD PMID:22702043 RGD:10395278 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:SNP:intron, 5' utr: (rs1062033) (human) RGD PMID:20417295 RGD:10045662 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates IEP RGD PMID:31258642 RGD:150519887 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 severity ISO mRNA,protein:increased expression:fat pad: RGD PMID:21765106 RGD:6893494 NCBI chr 1:153,454,078...153,484,432
Ensembl chr 1:153,454,080...153,484,428
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:20131282 RGD:6907382 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
JBrowse link
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 IEP RGD PMID:25435813 RGD:13506963 NCBI chr 8:79,341,554...79,344,784
Ensembl chr 8:79,341,557...79,344,839
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:serum: RGD PMID:22275171 RGD:10401792 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
JBrowse link
G Epas1 endothelial PAS domain protein 1 no_association ISO DNA:SNP:5' utr: (rs17039192) (human) RGD PMID:22247019 PMID:20495570 RGD:10395367, RGD:10395368 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:25422652 RGD:10400892 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:repeat:promoter:-1174(TA)9-25 (human)
DNA:polymorphisms, haplotype:intron, exon
DNA:SNP:cds:c.1782G>A (rs2228480) (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
RGD PMID:16098017 PMID:15380041 PMID:20128071 PMID:24772413 RGD:10043199, RGD:10045840, RGD:10045835, RGD:10045829 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:repeat:intron:c.1092+3607(CA)13-27 (human) RGD PMID:16098017 RGD:10043199 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21041276 RGD:5147774 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 treatment ISO RGD PMID:27159076 RGD:11568056 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased expression:synovial fluid RGD PMID:16289733 RGD:10401830 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hmgb1 high mobility group box 1 severity ISO protein:increased expression:synovial fluid
mRNA:decreased expression:articular cartilage
RGD PMID:21968272 PMID:19139395 RGD:10402061, RGD:10402184 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565
JBrowse link
G Hmgb2 high mobility group box 2 severity ISO mRNA:decreased expression:articular cartilage RGD PMID:19139395 PMID:19139395 RGD:10402184, RGD:10402184 NCBI chr16:32,710,651...32,713,230
Ensembl chr16:32,710,658...32,713,140
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:increased expression:tibial plateaux (mouse)
mRNA:decreased expression:blood (human)
RGD PMID:9497939 PMID:16139532 RGD:10412655, RGD:10429075 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression
severity
ISO
IEP
protein:decreased expression:plasma (rat)
mRNA:increased expression:meniscus:
RGD PMID:8461919 PMID:17133593 PMID:9497937 PMID:20633672 RGD:10045862, RGD:10003130, RGD:10046057, RGD:10045868 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:8948288 RGD:10045874 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il1a interleukin 1 alpha IEP
ISO
protein:increased expression:cartilage cell: RGD PMID:24534736 PMID:9497937 PMID:9034998 RGD:10045944, RGD:10046057, RGD:10045946 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il2 interleukin 2 severity ISO protein:increased expression:synovial fluid: RGD PMID:22035391 RGD:5687147 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 susceptibility IDA
ISO
DNA:repeat:intron: (rs8179190) (human) RGD PMID:18182309 PMID:24406619 RGD:2317291, RGD:10402787 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Kl Klotho susceptibility ISO DNA:SNPs:promoter,exon:395G>A,2998C>T(human) RGD PMID:18465812 RGD:10403041 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:23575542 RGD:10411887 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor susceptibility ISO protein:increased expression:serum:
DNA:SNP:cds:668A>G(human)
RGD PMID:23575542 PMID:23575542 RGD:10411887, RGD:10411887 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 susceptibility ISO DNA:snp:promoter:g.-2820G>A (rs10980705) (human) RGD PMID:18325907 RGD:10054291 NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:20,029,629...20,425,339
Ensembl chr 6:20,029,629...20,425,349
JBrowse link
G Mir219a1 microRNA 219a-1 ISO CTD Direct Evidence: therapeutic CTD PMID:35962723 NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796
JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:synovial membrane RGD PMID:30106113 RGD:25824950 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment IEP RGD PMID:21167838 RGD:8549737 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 ameliorates IEP RGD PMID:31258642 RGD:150519887 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IMP RGD PMID:22114772 RGD:8694098 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Penk proenkephalin treatment IEP RGD PMID:21928671 RGD:10003115 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
JBrowse link
G Ptges prostaglandin E synthase IEP RGD PMID:17530714 RGD:2300093 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Sbno1 strawberry notch homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr12:32,175,176...32,234,200
Ensembl chr12:32,185,485...32,230,158
JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:deletion:promoter:-716_-713del4A(human) RGD PMID:11558903 RGD:13208866 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
G Tgfa transforming growth factor alpha IEP protein:increased expression:cartilage RGD PMID:17968906 RGD:2317486 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr19:35,346,826...35,471,251
Ensembl chr19:35,346,814...35,472,699
JBrowse link
Lambert-Eaton myasthenic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:16289869 RGD:1626312 NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356
JBrowse link
limited scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 susceptibility
no_association
ISO DNA:SNPs:enhancer, intron:multiple
DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD PMID:22402147 PMID:22402147 RGD:8661768, RGD:8661768 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Stat4 signal transducer and activator of transcription 4 no_association
susceptibility
ISO DNA:SNPs:introns: (rs10168266, rs3821236) (human)
DNA:SNP:intron: (rs7574865) (human)
RGD PMID:23755762 PMID:23755762 PMID:19286670 RGD:8661701, RGD:8661701, RGD:8661714 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
Lipodermatosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO mRNA:increased expression:dermis RGD PMID:15727634 RGD:5688298 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
localized scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:15803328 RGD:8662838 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd1d1 CD1d1 molecule ameliorates ISO RGD PMID:14561706 RGD:127345108 NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
JBrowse link
lupus nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G C3 complement C3 ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:31182691 PMID:21888025 RGD:7175544 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity
susceptibility
ISO protein:increased expression:urine (human)
DNA:snp:promoter:g.-2518A>G (human)
RGD PMID:8558841 PMID:15188361 RGD:8549732, RGD:11528534 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:18187931 RGD:7241814 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:23799000 PMID:18566369 PMID:19265127 RGD:7248418, RGD:7248429, RGD:7248425 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:serum RGD PMID:20726330 PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 RGD:7248426, RGD:7248714, RGD:7248710, RGD:7248600, RGD:7248439 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cfb complement factor B ISO RGD PMID:10623824 PMID:3183062 PMID:21893562 RGD:7242736, RGD:7242763, RGD:7242755 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfh complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Clu clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO associated with Graft vs Host Disease
mRNA, protein:increased expression:kidney cortex
RGD PMID:21354048 PMID:7700025 PMID:7723234 RGD:5688301, RGD:5688333, RGD:5688332 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Crp C-reactive protein no_association ISO RGD PMID:18852001 PMID:20039408 PMID:15692982 RGD:6907400, RGD:6909146, RGD:6909145 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:21885670 PMID:17659436 RGD:7257567, RGD:7257589 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:33632240 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:missense mutation:cds:p.H131R (human)
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to
ClinVar
RGD
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 More... RGD:5147975 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO RGD PMID:15681388 RGD:7240529 NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism
protein:increased processing:kidney
CTD
RGD
PMID:31182691 PMID:22764573 PMID:29925830 RGD:6893369, RGD:14974252 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:renal glomerulus (mouse) RGD PMID:21641991 PMID:20410215 RGD:7175315, RGD:7175344 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist resistance ISO associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) RGD PMID:20538031 RGD:6907068 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Itgam integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Jak1 Janus kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir125a microRNA 125a IEP RNA:decreased expression:kidney RGD PMID:30972208 RGD:26884458 NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpo myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr11:67,987,816...68,001,496
Ensembl chr11:67,987,800...68,001,495
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:21509671 PMID:17880936 RGD:7174713, RGD:7174734 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483
JBrowse link
G Pdcd1 programmed cell death 1 onset ISO DNA:polymorphism: :
DNA:polymorphism:intron:6867 C>T (human)
RGD PMID:15934088 PMID:21041733 PMID:15352422 RGD:7248675, RGD:7248678, RGD:7248676 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms:cds:HLA-DQA1*0102 (human)
RGD PMID:12651073 RGD:40902999 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms:cds:HLA-DRB1*1501 (human) RGD PMID:12651073 RGD:40902999 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E treatment IDA mouse model RGD PMID:15494537 RGD:10760401 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31182691 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
JBrowse link
G Tlr7 toll-like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr9 toll-like receptor 9 severity
treatment
no_association
ISO mRNA, protein:increased expression:kidney (mouse)
associated with Graft vs Host Disease
protein:increased expression:renal glomerulus (human)
associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)
DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)
RGD PMID:23467932 PMID:17469139 PMID:21127878 PMID:19578108 PMID:22787315 More... RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with Lupus Erythematosus, Systemic;protein:increased expression:urine RGD PMID:21691937 RGD:7205483 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO RGD PMID:19201910 PMID:10906156 RGD:7245569, RGD:7245572 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:22846145 PMID:22674120 RGD:7245541, RGD:7245544 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
mixed connective tissue disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism:cds:HLA-DRB1*04 (human) RGD PMID:12559632 RGD:5147801 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
JBrowse link
G Tlr3 toll-like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
myasthenia gravis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO RGD PMID:17986328 RGD:5509842 NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15169653 PMID:23043710 RGD:8662430 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) RGD PMID:20728947 RGD:5684377 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Musk muscle associated receptor tyrosine kinase treatment
severity
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)
CTD
RGD
PMID:22981737 PMID:27119269 PMID:22218276 PMID:26025053 RGD:38599166, RGD:38599165 NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*0101/2, HLA-DQA1*0501 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQA!*0501, HLA-DQA1*0301 (human)
RGD PMID:19561379 PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human)
DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)
RGD PMID:19561379 PMID:10593018 RGD:5147612, RGD:5147855 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility
onset
ISO DNA:polymorphism: :HLA-DRB1∗09,HLA- DRB1∗08(human)
DNA:polymorphism: :HLA-DRB1*0901, HLA-DRB1*1302(human)
RGD PMID:21924912 PMID:15003812 RGD:7365051, RGD:7365079 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Zscan25 zinc finger and SCAN domain containing 25 ISO ClinVar Annotator: match by term: refractory myasthenia gravis ClinVar PMID:11279519 PMID:11740341 PMID:12065767 PMID:12754175 PMID:15492926 NCBI chr12:9,327,347...9,338,206
Ensembl chr12:9,326,404...9,338,221
JBrowse link
Nakajo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Nodular erythema digital changes ClinVar PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 PMID:25741868 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
JBrowse link
nodular nonsuppurative panniculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3259592 PMID:6982619 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr18:68,345,136...68,373,246
Ensembl chr18:68,345,012...68,373,249
JBrowse link
G Acan aggrecan treatment ISO
IEP
RGD PMID:22833446 PMID:21853458 RGD:11570535, RGD:11570544 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Aco1 aconitase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Adam12 ADAM metallopeptidase domain 12 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 1:188,686,984...189,014,206
Ensembl chr 1:188,686,989...189,020,667
JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO RGD PMID:15818704 RGD:1559176 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:missense mutation:cds: (rs4747096) (human) RGD PMID:18790654 RGD:6771189 NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 treatment ISO associated with Bone Diseases, Metabolic RGD PMID:22432033 RGD:10043110 NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 treatment
disease_progression
no_association
ISO
IEP
IMP
associated with Bone Diseases, Metabolic
mRNA:increased expression:cartilage
protein:alternative form:synovium
DNA:missense mutations:exon: (rs226794, rs2830585) (human)
DNA:missense mutation:exon:p.R614H (human)
RGD PMID:23982761 PMID:22432033 PMID:17530714 PMID:22084394 PMID:23954517 More... RGD:10043101, RGD:10043110, RGD:2300093, RGD:10003165, RGD:10043107, RGD:10043106, RGD:10043105, RGD:10043103, RGD:10043102 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16948116 PMID:23894457 RGD:8695985 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Ak4 adenylate kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24728293 NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
JBrowse link
G Aspn asporin no_association
susceptibility
ISO DNA:repeats:exon:
CTD Direct Evidence: marker/mechanism
OMIM
CTD
RGD
PMID:16542493 RGD:9684966 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
JBrowse link
G Atp7a ATPase copper transporting alpha ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Bad BCL2-associated agonist of cell death ISO RGD PMID:19217321 RGD:10053643 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
JBrowse link
G Bag6 BAG cochaperone 6 susceptibility ISO DNA:SNP: :rs3117582(human) RGD PMID:25231575 RGD:14390133 NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:cartilage RGD PMID:20187128 PMID:20187128 RGD:6483317, RGD:6483317 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bglap bone gamma-carboxyglutamate protein disease_progression ISO RGD PMID:20157712 RGD:6483599 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29138829 RGD:13782343 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:29138829 RGD:13782343 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:16508959 RGD:10043354 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO protein:increased expression:synovial membrane: RGD PMID:19942450 RGD:10054497 NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
JBrowse link
G Cd36 CD36 molecule susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment IEP RGD PMID:24009074 RGD:10043190 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta susceptibility ISO RGD PMID:22095691 RGD:10401214 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Cilp cartilage intermediate layer protein disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
JBrowse link
G Clec3b C-type lectin domain family 3, member B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
JBrowse link
G Clic4 chloride intracellular channel 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:147,453,702...147,513,455
Ensembl chr 5:147,453,712...147,513,452
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 PMID:18784066 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:SNP:intron:IVS1 RGD PMID:10743824 RGD:5688331 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col2a1 collagen type II alpha 1 chain onset
treatment
ISO
IDA
DNA:missense mutation:exon:p.R75C (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9061443 PMID:16189708 PMID:16755660 PMID:19216861 RGD:8657384, RGD:8661226 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670472 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:226,425,890...226,475,445
Ensembl chr 2:226,425,898...226,475,423
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:24938620 RGD:150429973 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dpep1 dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:41,005,551...41,111,724
Ensembl chr15:41,005,551...41,111,829
JBrowse link
G Edil3 EGF like repeats and discoidin domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:19,890,396...20,405,028
Ensembl chr 2:19,890,373...20,405,008
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 IEP mRNA:increased expression:articular cartilage of joint (rat) RGD PMID:31396630 RGD:42722015 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:10806043 RGD:1626498 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:layer of synovial tissue, stromal cell
mRNA:increased expression:cartilage
RGD PMID:21869830 PMID:12823854 PMID:20495569 PMID:20495569 RGD:10395364, RGD:10395366, RGD:10395365, RGD:10395365 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO mRNA:decreased expression:knee, articular cartilage of joint RGD PMID:24964749 RGD:10045611 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Erg ETS transcription factor ERG ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 5:161,323,981...161,337,289
Ensembl chr 5:161,323,998...161,337,282
JBrowse link
G Esd esterase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:50,043,634...50,063,134
Ensembl chr15:50,043,632...50,063,144
JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNP:intron: (rs2234693) (human)
DNA:SNPs:introns: (rs2234693, rs9340799) (human)
RGD PMID:20417295 PMID:19884274 RGD:10045662, RGD:10045830 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:SNP:intron: (rs1256031) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
JBrowse link
G Ezr ezrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22393163 RGD:10402075 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA:increased expression:trabecular bone: RGD PMID:15781004 RGD:10402109 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:cartilage: RGD PMID:8646429 RGD:10402156 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Frzb frizzled-related protein susceptibility ISO ClinVar Annotator: match by term: Osteoarthritis | ClinVar Annotator: match by term: Osteoarthritis susceptibility 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15210948 PMID:25741868 NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS
ClinVar Annotator: match by term: Osteoarthritis susceptibility 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:17384641 PMID:18830904 PMID:25741868 PMID:28492532 PMID:30664745 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Gh1 growth hormone 1 ISO protein:increased expression:plasma RGD PMID:7152485 RGD:10003140 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Ghr growth hormone receptor ISO DNA:deletion:exon: RGD PMID:23740230 RGD:10003113 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Gls glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
JBrowse link
G Gstk1 glutathione S-transferase kappa 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:71,118,979...71,123,298
Ensembl chr 4:71,118,896...71,123,292
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO RGD PMID:22586168 RGD:10402054 NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 PMID:18789153 RGD:10395366, RGD:10402406 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22330250 RGD:10401949 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084
JBrowse link
G Ifna1 interferon, alpha 1 treatment IEP RGD PMID:30456844 RGD:36174218 NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor severity ISO mRNA:increased expression:articular cartilage of joint: RGD PMID:8609369 RGD:10045889 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cartilage RGD PMID:22527881 RGD:10402552 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:18775662 RGD:10402575 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO
IEP
protein:increased expression:cartilage RGD PMID:24786088 PMID:24786088 RGD:12910979, RGD:12910979 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:chonodrocyte: RGD PMID:9497936 RGD:10047053 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21954917 PMID:22890185 RGD:7207218 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il4r interleukin 4 receptor ISO protein:increased expression:serum RGD PMID:16647277 RGD:10402785 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22035391 RGD:5687147 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Immt inner membrane mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:103,880,482...103,919,116
Ensembl chr 4:103,880,459...103,919,109
JBrowse link
G Ins2 insulin 2 ISO protein:increased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Isoc2b isochorismatase domain containing 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:68,972,960...68,993,760
Ensembl chr 1:68,972,960...68,993,757
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:18354251 RGD:6482239 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Lep leptin severity ISO protein:increased expression:tibia, cartilage, chondrocyte (human) RGD PMID:14613274 RGD:10053634 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lgals3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34894372 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Matn3 matrilin 3 ISO
ISS
ClinVar Annotator: match by term: Osteoarthritis susceptibility 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
MouseDO
CTD
PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532 NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
JBrowse link
G Mir146a microRNA 146a ISO mRNA:decreased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir34a microRNA 34a treatment ISO
IMP
mRNA:increased expression:knee, hip (human) RGD PMID:30048987 PMID:30048987 RGD:152177909, RGD:152177909 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO
IEP
mRNA, protein:increased expression:cartilage RGD PMID:16128596 PMID:11134178 PMID:17530714 PMID:23982761 PMID:22890185 RGD:7207089, RGD:10043117, RGD:2300093, RGD:10043101, RGD:7207218 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:synovial fluid (human) RGD PMID:15194590 RGD:7207131 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:synovial fluid (human) RGD PMID:16128596 PMID:15194590 RGD:7207089, RGD:7207131 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:24651621 PMID:22084394 RGD:10003163, RGD:10003165 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Mvp major vault protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
JBrowse link
G Myh13 myosin heavy chain 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951
JBrowse link
G Myl3 myosin light chain 3 ISS MouseDO NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D IEP protein:increased expression:spinal cord RGD PMID:20722027 RGD:10412653 NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748
JBrowse link
G Ncor2 nuclear receptor co-repressor 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 treatment IEP RGD PMID:34738623 RGD:329328930 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
JBrowse link
G Ngf nerve growth factor treatment IMP RGD PMID:33806315 PMID:25677108 RGD:402463969, RGD:402463970 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
JBrowse link
G Pdcd6ip programmed cell death 6 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:113,590,998...113,646,795
Ensembl chr 8:113,590,998...113,646,773
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP mRNA:increased expression:tibia (rat) RGD PMID:21864409 RGD:6771362 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
JBrowse link
G Pls3 plastin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891
JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:21378032 RGD:5508809 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Pou3f3 POU class 3 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 9:44,945,872...44,948,998
Ensembl chr 9:44,945,872...44,948,992
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:56,442,432...56,463,544
Ensembl chr 1:56,420,618...56,463,560
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:32004530 PMID:15334463 RGD:1625347 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:27,674,049...27,678,598
Ensembl chr12:27,674,050...27,678,276
JBrowse link
G Rcn3 reticulocalbin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:95,564,503...95,573,762
Ensembl chr 1:95,564,380...95,573,725
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16948116 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G Scrn1 secernin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:83,632,125...83,694,225
Ensembl chr 4:83,632,131...83,693,852
JBrowse link
G Sdcbp syndecan binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:19,473,499...19,517,188
Ensembl chr 5:19,489,961...19,527,572
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sec23a Sec23 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
JBrowse link
G Serpina1 serpin family A member 1 IEP RGD PMID:20434574 RGD:2324964 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Sgcg sarcoglycan, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18973239 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Smad3 SMAD family member 3 ISO
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:21217753 PMID:22772368 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:18784066 PMID:22108257 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tent5a terminal nucleotidyltransferase 5A susceptibility ISO DNA:repeats: : RGD PMID:25231575 RGD:14390133 NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045
JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b IEP RGD PMID:14872496 RGD:2290500 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Tnfsf10 TNF superfamily member 10 IEP RGD PMID:14872496 RGD:2290500 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228
JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
JBrowse link
G Trim2 tripartite motif-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:169,500,628...169,652,855
Ensembl chr 2:169,500,634...169,652,927
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21964574 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16876394 PMID:18784066 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273
JBrowse link
Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
OMIM
CTD
ClinVar
PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
Osteoarthritis, Experimental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Becn1 beclin 1 treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19404941 RGD:9068434 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp6 caspase 6 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
JBrowse link
G Casp7 caspase 7 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:25128628 RGD:11041187 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 treatment IEP RGD PMID:25975052 RGD:150429975 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:23041435 RGD:10402106 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A treatment IMP RGD PMID:16394269 RGD:10402538 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 IEP mRNA:decreased expression:knee RGD PMID:24754147 RGD:10412054 NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Mapk3 mitogen activated protein kinase 3 IEP RGD PMID:29364174 RGD:13800565 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:decreased expression:skeletal joint RGD PMID:31742919 RGD:40924673 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:28122611 RGD:27226703 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Ulk1 unc-51 like autophagy activating kinase 1 treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966
JBrowse link
Osteoarthritis, Hip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 IEP mRNA:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
JBrowse link
G Aspn asporin ISO mRNA:increased expression:cartilage: RGD PMID:15640800 RGD:9684965 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
JBrowse link
G Astn2 astrotactin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
JBrowse link
G Chadl chondroadherin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 PMID:30374069 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
JBrowse link
G Col10a1 collagen type X alpha 1 chain IEP mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association
susceptibility
ISO DNA:SNP:intron:g.2046G>T (human) RGD PMID:17187661 PMID:9811048 PMID:15880349 RGD:5688305, RGD:5688330, RGD:5688306 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387
JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNP:intron:g.-397T>C (human) RGD PMID:17419075 RGD:10045661 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Filip1 filamin A interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 8:80,761,283...80,956,556
Ensembl chr 8:80,764,604...80,922,549
JBrowse link
G Frzb frizzled-related protein ISO ClinVar Annotator: match by term: OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO ClinVar PMID:15210948 PMID:25741868 NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
JBrowse link
G Ghr growth hormone receptor ISO associated with Acromegaly;DNA:deletion:exon: RGD PMID:19864451 RGD:10003142 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Hdac9 histone deacetylase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 PMID:30664745 NCBI chr 1:69,069,829...69,076,129
Ensembl chr 1:69,068,137...69,076,129
JBrowse link
G Il4r interleukin 4 receptor susceptibility
no_association
ISO DNA:SNPs:multiple
DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human)
RGD PMID:14745651 PMID:19036616 RGD:10402782, RGD:10402784 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Itih1 inter-alpha trypsin inhibitor, heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr16:6,122,246...6,136,363
Ensembl chr16:6,122,248...6,136,363
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otulin OTU deubiquitinase with linear linkage specificity susceptibility ISO ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA ClinVar
OMIM
PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More... NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
JBrowse link
parapsoriasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-A2 RT1 class Ia, locus A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16538176 NCBI chr20:4,870,939...4,910,183 JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16538176 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
JBrowse link
pemphigus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:74171 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cast calpastatin ISO RGD PMID:16314468 RGD:5509814 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Cat catalase ISO protein:increased activities:skin: RGD PMID:22738420 RGD:9479165 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:21255096 RGD:5490304 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO mRNA, protein:increased expression:skin, serum RGD PMID:17531537 RGD:8547773 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432916 RGD:8693324 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:skin: RGD PMID:21327568 RGD:8693728 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*03011 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human) RGD PMID:18780165 RGD:5147619 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:cds:HLA-DRB1*0403, *0406, *1401, *1405, *1406 (human)
RGD PMID:9347787 PMID:18780165 RGD:40818304, RGD:5147619 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
pemphigus vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg3 desmoglein 3 ISS OMIM:169610 MouseDO NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:28197992 RGD:14747041 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
polymyalgia rheumatica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:plasma, endothelial microparticle (human) RGD PMID:22211720 RGD:6771319 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
polymyositis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr 9:48,229,403...48,340,237
Ensembl chr 9:48,253,410...48,340,237
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA,protein:increased expression:muscle RGD PMID:32213157 RGD:243048425 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7582694) (human) RGD PMID:24632671 RGD:8661720 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity ISO protein:increased expression:serum RGD PMID:11055823 RGD:8661747 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
psoriasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 susceptibility ISO mRNA:decreased expression:epidermis:
DNA:polymorphism:cds:p.R16G(human)
RGD PMID:8763426 PMID:15265530 RGD:8548488, RGD:8548492 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Ager advanced glycosylation end product-specific receptor no_association ISO DNA:SNP: :2184A>G (human)
DNA:polymorphisms: :p.G82S, 1704G>T, 2245A>G (human)
RGD PMID:12029499 PMID:12029499 RGD:8695975, RGD:8695975 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Alb albumin ISO RGD PMID:22607558 RGD:6483512 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO protein:increased expression:keratinocyte RGD PMID:8304420 RGD:5509788 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Ap1s3 adaptor related protein complex 1 subunit sigma 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:80,950,402...81,009,889
Ensembl chr 9:80,950,715...81,009,798
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP: :3937C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:
CTD
RGD
PMID:16433808 PMID:16433808 PMID:19499236 RGD:7495788, RGD:7771595 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Areg amphiregulin ISO RGD PMID:15955087 RGD:1578719 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
JBrowse link
G Arpc4 actin related protein 2/3 complex, subunit 4 ISS OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 MouseDO NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:haplotype: : rs10516487, rs3733197, rs17266594(human) RGD PMID:21989138 RGD:9684977 NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G C2 complement C2 ISO DNA:polymorphism: :C2*2 (human) RGD PMID:6559061 RGD:7411727 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cadm2 cell adhesion molecule 2 ISO RGD PMID:21864505 RGD:15092073 NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Psoriasis 2, pustular
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22521418 PMID:22521419 PMID:23143594 PMID:24212883 NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
JBrowse link
G Cast calpastatin ISO RGD PMID:15654835 RGD:5509819 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Cat catalase treatment ISO protein:increased activity:serum:
CTD Direct Evidence: marker/mechanism
protein:decreased activity:liver:
protein:decreased activity:skin:
CTD
RGD
PMID:12559600 PMID:12602965 PMID:24018880 PMID:12165738 RGD:9479159, RGD:9479744, RGD:9479170 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cav1 caveolin 1 ISO protein:decreased expression:skin RGD PMID:12366416 RGD:8661784 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 treatment ISO mRNA:increased expression:skin RGD PMID:10843722 PMID:16081850 PMID:22895364 RGD:7483581, RGD:7483625, RGD:7483594 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:decreased expression:T cell RGD PMID:23954573 RGD:8551838 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:10843722 PMID:19662682 RGD:7483581, RGD:7483598 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:intron: (rs4810485) (human) RGD PMID:21645569 RGD:5490300 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:skin: RGD PMID:7636313 RGD:8662825 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cfb complement factor B no_association ISO DNA:polymorphisms RGD PMID:6559061 PMID:2609873 RGD:7411727, RGD:7421520 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfh complement factor H severity ISO protein:increased expression:plasma RGD PMID:2973157 RGD:8662318 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cfi complement factor I severity ISO protein:increased expression:plasma RGD PMID:2973157 RGD:8662318 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G Clu clusterin ISO protein:decreased expression:plasma RGD PMID:23522962 RGD:9068388 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Comt catechol-O-methyltransferase ISO RGD PMID:24001377 RGD:8662328 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12559600 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Crp C-reactive protein treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD
RGD
PMID:12559600 PMID:22503884 PMID:22754198 RGD:6482313, RGD:9495927 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7744320 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csmd1 CUB and Sushi multiple domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10974034 RGD:7411683 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:SNP, missense mutation:intron, cds: , p.T280M (human) RGD PMID:17002687 RGD:9491384 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:missense mutation, SNP:exon, 3' utr:2455A>G, 3801T>C (human) RGD PMID:12713578 RGD:5147677 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12711469 NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO mRNA:decreased expression:skin RGD PMID:22924482 RGD:7495852 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Eln elastin treatment ISO RGD PMID:6893335 RGD:9585764 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:17495954 RGD:10395383 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 PMID:20953190 PMID:23291587 PMID:24212883 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
JBrowse link
G Fabp5 fatty acid binding protein 5 ISO mRNA:increased expression:skin (human) RGD PMID:16283139 RGD:1578463 NCBI chr 2:91,765,056...91,768,716
Ensembl chr 2:91,765,056...91,853,773
JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO mRNA:increased expression:dermal dendritic cell RGD PMID:20471070 RGD:5147919 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 disease_progression ISO protein:increased expression:serum: RGD PMID:20980160 RGD:8552359 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO RGD PMID:15610510 RGD:5508434 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 PMID:24212883 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO protein:increased expression:epidermis: RGD PMID:21805023 RGD:5491007 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18722346 NCBI chr12:32,726,252...32,728,238
Ensembl chr12:32,726,184...32,728,504
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:serum (human) RGD PMID:23517877 PMID:17495954 RGD:8695945, RGD:10395383 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment
severity
ISO protein:increased expression:serum RGD PMID:2015706 PMID:8094011 PMID:16181457 RGD:8158118, RGD:8547688, RGD:8547579 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Ifnlr1 interferon, lambda receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 5:147,919,547...147,942,328
Ensembl chr 5:147,919,908...147,942,332
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA,protein:increased expression:skin: RGD PMID:21241374 RGD:8549492 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:16397523 RGD:7495754 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Il10 interleukin 10 onset ISO DNA:SNP:promoter:-1082G>A (human) RGD PMID:11298547 RGD:7829824 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:19169255 PMID:20953190 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il13 interleukin 13 no_association
susceptibility
ISO DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: (rs20541) (human)
CTD
RGD
PMID:19169254 PMID:20953190 PMID:21349879 PMID:23617596 RGD:8549517, RGD:8549593 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681
JBrowse link
G Il17a interleukin 17A treatment ISO mRNA:protein:increased expression:epidermis (human) RGD PMID:24286371 PMID:20926833 PMID:21172868 PMID:23359500 PMID:23359500 RGD:8698656, RGD:9068415, RGD:9068413, RGD:8698663, RGD:8698663 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Psoriasis ClinVar NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
JBrowse link
G Il18 interleukin 18 treatment ISO protein:increased expression:plasma RGD PMID:22291810 PMID:17611614 RGD:8655900, RGD:8655919 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7744320 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il2 interleukin 2 disease_progression ISO RGD PMID:2448994 RGD:10047079 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il20 interleukin 20 ISO associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human) RGD PMID:21109726 RGD:5147391 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
JBrowse link
G Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:20953190 PMID:21348542 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP:cds:p.R381Q(human)
ClinVar Annotator: match by term: Psoriasis, protection against
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11805303(human)
DNA:SNPs: :rs1884444,rs10889677(human);
ClinVar
CTD
RGD
PMID:12023369 PMID:17068223 PMID:17447842 PMID:17587057 PMID:17786191 More... RGD:8549569, RGD:8549602, RGD:8549574 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Il3 interleukin 3 ISO protein: decreased expression RGD PMID:19889595 RGD:5686909 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19169254 PMID:15039646 PMID:19729876 RGD:7829812, RGD:7829826 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16844318 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO RGD PMID:23018031 RGD:7495784 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Itgb2 integrin subunit beta 2 ISO
ISS
OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 MouseDO
RGD
PMID:19812597 RGD:6482221 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Kdr kinase insert domain receptor treatment ISO mRNA:increased expression:skin: RGD PMID:23732650 PMID:20071151 RGD:8552361, RGD:8552376 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Lce3e late cornified envelope 3E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169253 NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Psoriasis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron:IVS1 (human) RGD PMID:12709814 RGD:8548775 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:23113841 RGD:8693722 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10384915 PMID:22499302 RGD:6483515 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO protein:increased expression:blood serum (human) RGD PMID:22151390 RGD:329845865 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:19334527 RGD:8552687 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:10384915 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:10815854 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:17581627 RGD:6482263 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association
susceptibility
onset
ISO DNA:missense mutation:cds:p.R620W (rs2476601) (human)
DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human)
DNA:SNP:3' utr: (rs3789604) (human)
DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human)
RGD PMID:18341666 PMID:20039785 PMID:18923449 PMID:18341666 RGD:7829762, RGD:7829765, RGD:7829764, RGD:7829762 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837
JBrowse link
G Rbp4 retinol binding protein 4 ISO protein:decreased expression:blood serum (human) RGD PMID:22151390 RGD:329845865 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3540694 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Rig1 RNA sensor RIG-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
JBrowse link
G Rnf114 ring finger protein 114 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 3:156,222,487...156,234,263
Ensembl chr 3:156,222,498...156,234,256
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0104, HLA-DQA1*0201, HLA-DQA1*0501 (human) RGD PMID:15009387 RGD:5147797 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0303 (human) RGD PMID:15009387 RGD:5147797 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G S100a7a S100 calcium binding protein A7A ISS MouseDO NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
JBrowse link
G Serpinb8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:increased expression:skin:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7744320 PMID:7744320 RGD:8547526 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISS OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 MouseDO NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO
ISS
CTD Direct Evidence: marker/mechanism MouseDO
CTD
RGD
PMID:23143594 PMID:23594598 PMID:20811392 RGD:8694295, RGD:8694306 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron:IVS3 (rs7574865) (human) RGD PMID:19500629 RGD:8661715 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human) RGD PMID:11194890 RGD:8548788 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:SNPs:CDs:p.T665A, Q687Q(human) RGD PMID:17581627 RGD:6482263 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7519033 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO protein:increased expression:serum RGD PMID:15072741 RGD:7394851 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:23457721 RGD:7777173 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:mononuclear cell: RGD PMID:23457721 RGD:7777173 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-238G>A(rs361525)(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7744320 PMID:16844318 PMID:9326391 PMID:16821276 RGD:7394813, RGD:7401180 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:20953190 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:15998370 RGD:8661740 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19169254 PMID:20953190 NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10384915 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 PMID:20953190 NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISS OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 MouseDO NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953190 NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
JBrowse link
G Vdr vitamin D receptor treatment
no_association
susceptibility
ISO DNA:silent mutation:cds:pI352 (rs731236) (human)
DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human)
DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human)
DNA:SNPs, haplotype:intron, cds, enhancer:multiple
DNA:SNPs:exon:multiple
DNA:SNP:promoter:-1012A>G (rs4516035) (human)
DNA:silent mutation:cds: (rs731236) (human)
GAD
RGD
PMID:15118671 PMID:20716226 PMID:15864137 PMID:21951018 PMID:24055231 More... RGD:1331525, RGD:8158081, RGD:8158072, RGD:8158062, RGD:8158056, RGD:8157635, RGD:8157635, RGD:8157633 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A onset
disease_progression
treatment
ISO
ISS
mRNA:increased expression:skin:
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :405C>G(human)
protein:increased expression:serum:
MouseDO
CTD
RGD
PMID:16385345 PMID:8064230 PMID:14962110 PMID:20980160 PMID:19995970 RGD:7421592, RGD:8552645, RGD:8552359, RGD:8549646 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vnn1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:21,537,084...21,547,395
Ensembl chr 1:21,537,094...21,547,395
JBrowse link
G Vnn3 vanin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:21,571,364...21,583,626
Ensembl chr 1:21,571,364...21,583,626
JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143594 NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
JBrowse link
G Zfp141 zinc finger protein 141 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953187 PMID:24212883 NCBI chr 1:93,130,574...93,164,293
Ensembl chr 1:93,130,598...93,163,404
JBrowse link
psoriasis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip2 Traf3 interacting protein 2 susceptibility ISO ClinVar Annotator: match by term: Psoriasis 13, susceptibility to ClinVar
OMIM
PMID:20953186 PMID:20953188 PMID:22581863 PMID:24033266 PMID:24120361 More... NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
psoriasis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s3 adaptor related protein complex 1 subunit sigma 3 susceptibility ISO ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to OMIM
ClinVar
PMID:24033266 PMID:24791904 PMID:25741868 PMID:28887889 NCBI chr 9:80,950,402...81,009,889
Ensembl chr 9:80,950,715...81,009,798
JBrowse link
psoriasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family, member 14 ISO
ISS
ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2
OMIM:602723
OMIM
ClinVar
MouseDO
PMID:8178173 PMID:9536098 PMID:15689454 PMID:17576681 PMID:18256691 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2 ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
JBrowse link
psoriasis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il23r interleukin 23 receptor ISO ClinVar Annotator: match by term: IL23R-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
psoriatic arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:16936328 RGD:5683894 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) RGD PMID:20153665 RGD:8661745 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphisms: :4887C>A, 4889A>G (human) RGD PMID:15124938 RGD:5147746 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il13 interleukin 13 susceptibility ISO DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human
DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)
RGD PMID:21349879 PMID:19554022 RGD:8549517, RGD:8549552 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A severity
treatment
ISO RGD PMID:24567524 PMID:23361084 RGD:8698658, RGD:9068444 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Lta lymphotoxin alpha treatment
susceptibility
ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
OMIM
CTD
ClinVar
RGD
PMID:12426569 PMID:12746914 PMID:14681301 PMID:22480318 RGD:8548821 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408446 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to ClinVar PMID:11385576 PMID:25741868 PMID:28492532 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22751595 RGD:6771221 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation: :R620W (rs2476601) (human)
RGD PMID:21410964 PMID:15934099 RGD:6484592, RGD:6484550 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs744166 (human)
DNA:SNP: :rs2293152 (human)
RGD PMID:23127549 PMID:23127549 RGD:8694309, RGD:8694309 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs10181656 (human) RGD PMID:22328738 RGD:8661724 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-238G>A(rs361525)(human)
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... RGD:7394813 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
pustular psoriasis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Generalized pustular psoriasis ClinVar PMID:19494218 PMID:21792839 PMID:21848462 PMID:22940634 PMID:23698098 More... NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Generalized pustular psoriasis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: Psoriasis 14, pustular OMIM
ClinVar
PMID:6147717 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494218 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
JBrowse link
pustulosis of palm and sole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lta lymphotoxin alpha ISO DNA:SNP:intron:IVS1 (human) RGD PMID:12691703 RGD:8548804 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNPs:promoter:multiple
DNA:SNPs, haplotype:5' utr:multiple
RGD PMID:11019918 PMID:12691703 RGD:8548803, RGD:8548804 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
reactive arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:14687717 RGD:1581251 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B27 (human) RGD PMID:8154628 RGD:7365111 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:14687717 RGD:1581251 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:7748224 RGD:6482278 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:7748224 RGD:6482278 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
relapsing polychondritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar
PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
JBrowse link
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gc GC, vitamin D binding protein ISO RGD PMID:2737695 RGD:5509933 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism: :HLA-DQA1*03 (human)
RGD PMID:17559688 PMID:15789899 RGD:5147792, RGD:127285392 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Cd209d CD209d molecule ISO protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Cd36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP RGD PMID:26823728 RGD:13792679 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Inhba inhibin subunit beta A IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
JBrowse link
G Mir155 microRNA 155 IMP RGD PMID:31894293 RGD:151347417 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)
RGD PMID:17559688 PMID:29029143 RGD:5147792, RGD:126925989 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Snai1 snail family transcriptional repressor 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
JBrowse link
G Socs1 suppressor of cytokine signaling 1 treatment IEP RGD PMID:31894293 RGD:151347417 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Twist1 twist family bHLH transcription factor 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Sele selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO GAD PMID:15118671 RGD:1331525 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20080907 PMID:22104130 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
JBrowse link
G Abcc5 ATP binding cassette subfamily C member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Acan aggrecan disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased degradation:cartilage
CTD
RGD
PMID:15292528 PMID:16507130 RGD:11570537 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 ISO mRNA:increased expression:synovium RGD PMID:11801682 RGD:10043106 NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO protein:alternative form:synovium RGD PMID:11801682 RGD:10043106 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12833524 PMID:21789720 RGD:5686424 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:12739037 RGD:5684893 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Aff3 ALF transcription elongation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 9:40,399,099...40,856,716
Ensembl chr 9:40,404,375...40,857,247
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:decreased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16385501 PMID:20541603 RGD:7244141 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18617548 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Ang angiogenin ISO RGD PMID:12653852 RGD:6892721 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Ankrd55 ankyrin repeat domain 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 2:43,883,877...43,983,820
Ensembl chr 2:43,883,857...43,983,680
JBrowse link
G Anxa3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood serum (human) RGD PMID:20367977 RGD:5685646 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 PMID:23143596 NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19193698 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding IEP mRNA:decreased expression:liver RGD PMID:18372237 RGD:153352318 NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:96,808,473...96,833,674
Ensembl chr14:96,806,664...96,835,273
JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344
JBrowse link
G Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr12:10,250,434...10,339,937
Ensembl chr12:10,250,473...10,339,928
JBrowse link
G Bcl2a1 BCL2-related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:serum RGD PMID:22447331 PMID:3488088 RGD:6483593, RGD:6483600 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Bgn biglycan ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNPs: : RGD PMID:23364395 RGD:9685033 NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341
JBrowse link
G C3 complement C3 ISO RGD PMID:7561187 RGD:11040775 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C4b complement C4B ISO RGD PMID:22076784 RGD:5688263 NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
JBrowse link
G Cald1 caldesmon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
JBrowse link
G Casp7 caspase 7 ISO RGD PMID:18785314 RGD:5684540 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
JBrowse link
G Cast calpastatin ISO RGD PMID:7706496 RGD:5683620 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum RGD PMID:20056091 RGD:4891442 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G Ccn1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)
CTD
RGD
PMID:19192274 PMID:34031328 RGD:329845561 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:12860725 RGD:5688170 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO protein:increased expression:synovial membrane:
mRNA:increased expression:synovium:
RGD PMID:19942450 PMID:25430645 RGD:10054497, RGD:10054499 NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 resistance
no_association
ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:16541097 PMID:17565662 RGD:1626290, RGD:1626283 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453841 PMID:20453842 PMID:23143596 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026
JBrowse link
G Cd244 CD244 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis
CTD
OMIM
ClinVar
PMID:18794858 NCBI chr13:84,051,339...84,082,864
Ensembl chr13:84,052,493...84,074,492
JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19898481 PMID:20453842 PMID:23143596 PMID:19075187 RGD:5131619 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
G Cd40 CD40 molecule ISO DNA:SNP: :rs4810485 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18794853 PMID:20453842 PMID:23143596 PMID:20498205 RGD:5490972 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd5 Cd5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
JBrowse link
G Cd80 Cd80 molecule ISO protein:increased expression:serum RGD PMID:22917707 RGD:6893647 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cd83 CD83 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr17:20,887,309...20,907,009
Ensembl chr17:20,887,309...20,907,083
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:knee, articular cartilage (human) RGD PMID:19248099 RGD:10401213 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:10461474 RGD:4892605 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit IEP mRNA,protein:increased expression:joint, spleen: RGD PMID:31279484 RGD:151676715 NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:23261301 PMID:25741868 PMID:28492532 NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator susceptibility
no_association
ISO DNA:haplotype:promoter/CDS:rs3087456G/rs4774C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis
DNA:polymorphism:promoter:-168A>G (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)
OMIM
CTD
ClinVar
RGD
PMID:15821736 PMID:16849401 PMID:25741868 PMID:28492532 PMID:19221398 More... RGD:5491176, RGD:1358146, RGD:5491189 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Clec12a C-type lectin domain family 12, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:162,798,125...162,816,757
Ensembl chr 4:162,798,125...162,816,753
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs6498169G (human) RGD PMID:19221398 RGD:5491176 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 PMID:29935983 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Crp C-reactive protein ISO
IDA
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1568518 PMID:22173958 PMID:22173958 RGD:6904209, RGD:6904209 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 1:197,527,467...197,539,343
Ensembl chr 1:197,527,467...197,539,488
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:11465708 RGD:4892002 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Cybb cytochrome b-245 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24313545 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISS OMIM:180300 MouseDO NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
JBrowse link
G Dnmt1 DNA methyltransferase 1 severity ISO mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO DNA:polymorphism:promoter:-283C>T(human) RGD PMID:19777235 RGD:9589110 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Edn1 endothelin 1 treatment ISO RGD PMID:22249931 RGD:8661695 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898480 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
JBrowse link
G Esr2 estrogen receptor 2 severity ISO DNA:SNP:exon:rs1256049(human) RGD PMID:21523342 RGD:5508794 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:snp:promoter:g.-670A>G (human)
protein:increased expression:serum (human)
RGD PMID:23053964 PMID:20875116 PMID:12148596 RGD:8662433, RGD:12903969, RGD:8662455 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO protein:increased expression:synovial joint: RGD PMID:16670289 RGD:9685708 NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:polymorphism: :p.H131R (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20453842 PMID:23143596 PMID:12508778 PMID:8254199 RGD:5147978, RGD:5147984 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human)
DNA:CNVs
protein:decreased expression:NK cell
RGD PMID:19019892 PMID:25154742 PMID:15334114 RGD:5508391, RGD:11344974, RGD:5508467 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
JBrowse link
G Foxo3 forkhead box O3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: RGD PMID:19435720 RGD:10402186 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20476861 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:3874814 PMID:9548303 RGD:5509931 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18830904 NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
JBrowse link
G Ggh gamma-glutamyl hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 5:33,529,880...33,552,790
Ensembl chr 5:33,529,880...33,552,787
JBrowse link
G Gin1 gypsy retrotransposon integrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 9:98,293,596...98,315,155
Ensembl chr 9:98,293,597...98,315,848
JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 4:167,903,542...167,922,276
Ensembl chr 4:167,903,542...167,922,260
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO DNA: deletion: : heterozygous
CTD Direct Evidence: marker/mechanism
protein: decreased expression: mononuclear cells
CTD
RGD
PMID:10094932 PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis
protein: decreased expression: mononuclear leukocytes
RGD PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO DNA: deletion: : homozygous
CTD Direct Evidence: marker/mechanism
protein: decreased expression: mononuclear cells
CTD
RGD
PMID:10094932 PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr17:9,177,018...9,192,813
Ensembl chr17:9,177,019...9,192,644
JBrowse link
G Gsdme gasdermin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: :
DNA:deletion: :
RGD PMID:16887863 PMID:15940757 PMID:16870093 RGD:5490993, RGD:5490998, RGD:5490994 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity
susceptibility
ISO DNA:deletion: : RGD PMID:19473562 PMID:20401725 PMID:20597111 RGD:5490553, RGD:5490983, RGD:5490982 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
JBrowse link
G Hcls1 hematopoietic cell specific Lyn substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32289289 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 severity IDA RGD PMID:18025202 RGD:9685481 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:peripheral blood lymphocyte (human) RGD PMID:22047640 RGD:5688784 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:synovial joint RGD PMID:11315915 RGD:5685639 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO protein:increased expression:synovial cell: RGD PMID:23739258 RGD:10402561 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO protein:increased expression:serum: RGD PMID:21417552 RGD:10402843 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Ifng interferon gamma treatment ISO mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22450443 PMID:1417133 PMID:22660635 RGD:8157623, RGD:155663483 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igf2 insulin-like growth factor 2 ISO DNA:loss of imprinting:synovial cell
protein:decreased expression:plasma
RGD PMID:19556211 PMID:11247331 RGD:5510001, RGD:5510014 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of
CTD
OMIM
ClinVar
PMID:12847677 PMID:22450443 PMID:25741868 PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A treatment ISO mRNA:increased expression:synovial (human) RGD PMID:20926833 PMID:22660635 RGD:9068415, RGD:155663483 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16368150 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of ClinVar PMID:12847677 PMID:25741868 PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
JBrowse link
G Il1a interleukin 1 alpha severity ISO associated with lung disease, interstitial
protein:increased expression:plasma, synovial fluid
RGD PMID:11192540 PMID:8162643 RGD:4142818, RGD:7794716 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO protein:decreased expression:serum
mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12566094 PMID:17379860 PMID:22450443 PMID:22414257 PMID:22660635 RGD:6482656, RGD:155663483 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:7706905 PMID:19192274 PMID:19447938 PMID:10637275 RGD:7174696, RGD:8549810 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il20 interleukin 20 ISO RGD PMID:16947773 RGD:5147395 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:19342640 RGD:6892964 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP::rs1343151(human) RGD PMID:18647855 RGD:8549596 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:20476861 PMID:23143596 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Il3 interleukin 3 ISO DNA: SNPs: Multiple: gene-gene interaction RGD PMID:20018070 RGD:5686905 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
JBrowse link
G Il4r interleukin 4 receptor severity ISO DNA:SNP: :rs1805010 (human) RGD PMID:24782180 RGD:10402783 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22293286 RGD:5687156 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 PMID:22450443 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16729287 PMID:23143596 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:180300
CTD
MouseDO
PMID:20453842 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Irf5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667 PMID:20453842 More... RGD:40924627, RGD:40924559 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link
G Itga6 integrin subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
JBrowse link
G Itpa inosine triphosphatase treatment ISO DNA:SNP: :94C>A(human) RGD PMID:29441893 RGD:14975307 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21510883 RGD:6483024 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human)
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
CTD
RGD
PMID:23143596 PMID:21784728 PMID:23378462 RGD:12793073, RGD:12793072 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Kmt2c lysine methyltransferase 2C treatment IMP RGD PMID:33914205 RGD:151356764 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554268 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lhx2 LIM homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:22,113,619...22,143,909
Ensembl chr 3:22,126,007...22,143,908
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO RGD PMID:17082220 RGD:5508419 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
JBrowse link
G Mab21l2 mab-21 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794
JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase susceptibility
no_association
ISO DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human)
DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human)
RGD PMID:20676650 PMID:22505706 RGD:9588977, RGD:9588978 NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
JBrowse link
G Mdk midkine ISO RGD PMID:15146411 RGD:1581200 NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
JBrowse link
G Mgarp mitochondria-localized glutamic acid-rich protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:135,431,283...135,439,425
Ensembl chr 2:135,431,283...135,439,612
JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mir146a microRNA 146a ISO mRNA:decreased expression:cartilage tissue (human)
mRNA:increased expression:synovial (human)
RGD PMID:31472145 PMID:22660635 RGD:152177908, RGD:155663483 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir23b microRNA 23b ISO mRNA, protein:decreased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISS OMIM:180300 MouseDO NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 disease_progression ISO protein:increased expression:serum (human) RGD PMID:7639798 PMID:22314025 PMID:11796404 RGD:7207128, RGD:8693673, RGD:7241254 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 PMID:26001728 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:15987486 RGD:5490238 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22104130 PMID:23685257 RGD:7387222 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 induced ISO
IAGP
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:M153T (rat)
CTD
RGD
PMID:12833524 PMID:28135245 PMID:21275845 RGD:41404729 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism, SNP:cds (rs789181) (human)
CTD
RGD
PMID:12833524 PMID:17897462 RGD:41404710 NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO DNA:polymorphism, SNP:cds (rs729749) (human) RGD PMID:17897462 RGD:41404710 NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
JBrowse link
G Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010
JBrowse link
G Nfkbie NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 9:15,443,600...15,450,437
Ensembl chr 9:15,436,941...15,450,437
JBrowse link
G Nfkbil1 NFKB inhibitor like 1 susceptibility ISO DNA:snp:promoter:c.-132T>A (rs2071592) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis
CTD
OMIM
ClinVar
RGD
PMID:12509789 PMID:12509789 RGD:1331681 NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616
JBrowse link
G Notch4 notch receptor 4 ISO mRNA : increased expression: : cd4+ cells RGD PMID:20132067 RGD:6480790 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:20179762 RGD:4891930 NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP mRNA:increased expression:paw RGD PMID:18448865 RGD:4892311 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
JBrowse link
G Oprm1 opioid receptor, mu 1 susceptibility ISO DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) RGD PMID:31309790 RGD:401827955 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr 5:153,209,053...153,251,632
Ensembl chr 5:153,209,053...153,251,632
JBrowse link
G Padi4 peptidyl arginine deiminase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis
CTD
ClinVar
PMID:23143596 PMID:25741868 NCBI chr 5:153,041,351...153,074,412
Ensembl chr 5:153,041,352...153,074,362
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:1708827 RGD:6482653 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pgf placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:17326817 RGD:6482776 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:22011479 RGD:6484117 NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
JBrowse link
G Plb1 phospholipase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24520335 NCBI chr 6:24,087,051...24,227,167
Ensembl chr 6:24,089,214...24,210,117
JBrowse link
G Pld4 phospholipase D family, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16055108 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Pou3f1 POU class 3 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 5:136,910,391...136,913,371
Ensembl chr 5:136,910,391...136,913,371
JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15167967 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11978490 PMID:19192274 PMID:21905970 RGD:5508313 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility
no_association
ISO DNA:snp:cds:p.R620W (rs2476601) (human)
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism
DNA:SNP::1858C>T (human)
DNA:snp:cds:p.R263Q (rs33996649) (human)
ClinVar
OMIM
CTD
RGD
PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... RGD:6484535, RGD:7829746, RGD:6484595 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Pxk PX domain containing serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chr15:16,759,857...16,828,452
Ensembl chr15:16,759,862...16,828,444
JBrowse link
G Rab8a RAB8A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr16:17,654,027...17,675,385
Ensembl chr16:17,654,034...17,675,678
JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138
JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503088 PMID:20453842 PMID:23143596 NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
JBrowse link
G Rgmb repulsive guidance molecule BMP co-receptor b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 1:56,766,598...56,792,396
Ensembl chr 1:56,767,850...56,792,425
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:11482129 PMID:11454644 RGD:5147859, RGD:5147860 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:11454644 RGD:5147860 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)
DNA:polymorphisms (human)
DNA:polymorphisms: :multiple (human)
CTD
RGD
PMID:19898480 PMID:20453842 PMID:22286218 PMID:18512783 PMID:11454644 More... RGD:4144826, RGD:5147860, RGD:5147616, RGD:5147567 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 PMID:22286218 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Runx1 RUNX family transcription factor 1 no_association ISO DNA:SNPs: :rs2242720, rs4816502 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs2268277 (human)
DNA:SNP:intron:24658G>C (human)
CTD
RGD
PMID:23143596 PMID:20018071 PMID:18087673 PMID:18328148 PMID:16821265 RGD:6482836, RGD:6482840, RGD:6482839, RGD:6482837 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Sema3c semaphorin 3C ISO protein:increased expression:knee, synovium (human) RGD PMID:15077297 RGD:1580084 NCBI chr 4:17,583,212...17,747,234
Ensembl chr 4:17,583,212...17,746,534
JBrowse link
G Slc11a1 solute carrier family 11 member 1 severity ISO DNA:polymorphism:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, deletion: :823C>T, p.D543N (human)
CTD
RGD
PMID:16597321 PMID:12135431 PMID:10719815 RGD:5684967, RGD:5684971 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc22a4 solute carrier family 22 member 4 susceptibility ISO ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14608356 PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:38,133,333...38,179,932
Ensembl chr10:38,133,322...38,179,720
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
JBrowse link
G Sms spermine synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr  X:37,516,949...37,572,657
Ensembl chr  X:37,516,931...37,570,822
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 PMID:15292528 PMID:24313545 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15761492 RGD:1581382 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162
JBrowse link
G St6galnac5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 PMID:17568789 NCBI chr 2:241,741,933...241,911,214
Ensembl chr 2:241,742,688...241,911,208
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402
JBrowse link
G Supt20h SPT20 homolog, SAGA complex component ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr 2:138,897,316...138,930,493
Ensembl chr 2:138,897,416...138,930,495
JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr  X:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056
JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:9645419 RGD:6482275 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:17379860 NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15700117 RGD:5685020 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
JBrowse link
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:32594150 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tmpo thymopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
G Tnf tumor necrosis factor treatment
no_association
ISO
ISS
OMIM:180300
mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:SNP:promoter:-238G>A, -308G>A (human)
DNA:SNP:promoter:-857C>T (human)
MouseDO
CTD
RGD
PMID:2001072 PMID:8391952 PMID:12566094 PMID:22450443 PMID:34459104 More... RGD:10450537, RGD:155663483, RGD:12904065, RGD:12904065 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:23333834 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO DNA:SNP:promoter:36G>A (human) RGD PMID:25311255 RGD:12904065 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:2,068,295...2,073,128
Ensembl chr 9:2,069,104...2,073,216
JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:23143596 NCBI chr 3:18,222,024...18,242,163
Ensembl chr 3:18,222,054...18,241,807
JBrowse link
G Traf6 TNF receptor associated factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507
JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 treatment IEP RGD PMID:27049384 RGD:127229930 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
JBrowse link
G Txndc5 thioredoxin domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chr17:26,289,880...26,318,025
Ensembl chr17:26,289,880...26,318,025
JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:polymorphism: : RGD PMID:22763757 RGD:11075093 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp treatment IEP RGD PMID:27049384 RGD:127229930 NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16368150 PMID:24387171 RGD:8548659 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vim vimentin ISO RGD PMID:21792832 RGD:6480508 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISS OMIM:180300 MouseDO NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
JBrowse link
G Zfp36 zinc finger protein 36 ISS OMIM:180300 MouseDO NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564
JBrowse link
scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphisms:HLA-A30, 32 RGD PMID:16078323 RGD:329961298 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Scleroderma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities
OMIM
CTD
ClinVar
PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More... NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
JBrowse link
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome OMIM
ClinVar
PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More... NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
Sjogren's syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISS OMIM:270150 MouseDO NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bdnf brain-derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: RGD PMID:30249485 RGD:14398821 NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:12412204 PMID:23773920 RGD:8551796, RGD:8551818 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISS OMIM:270150 MouseDO NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Crp C-reactive protein ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum: RGD PMID:2353152 PMID:16013223 RGD:9491774, RGD:9491835 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)
mRNA:increased expression:salivary gland:
RGD PMID:16869018 PMID:12528117 RGD:7421506, RGD:7421519 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISS OMIM:270150 MouseDO NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dgkq diacylglycerol kinase, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
JBrowse link
G E2f1 E2F transcription factor 1 ISS OMIM:270150 MouseDO NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
JBrowse link
G Fas Fas cell surface death receptor ISO
ISS
protein:increased expression:serum (human)
OMIM:270150
protein:decreased expression:lacrimal gland, lymphocyte (mouse)
MouseDO
RGD
PMID:9890678 PMID:9870874 PMID:11157873 RGD:8662410, RGD:8662451, RGD:8662436 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:24941846 RGD:10450595 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:salivary gland
protein:increased expression:plasma
RGD PMID:11359451 PMID:21589878 PMID:15037117 RGD:8158122, RGD:8547705, RGD:8547696 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Id3 inhibitor of DNA binding 3 ISS OMIM:270150 MouseDO NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
JBrowse link
G Ifng interferon gamma ISO RGD PMID:15584966 PMID:28421993 RGD:8142390, RGD:14975117 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
protein:increased expression:conjunctiva (human)
RGD PMID:9646842 PMID:11527941 RGD:8549786, RGD:8549807 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISS OMIM:270150 MouseDO NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISS OMIM:270150 MouseDO NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il4 interleukin 4 ISS OMIM:270150 MouseDO NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)
RGD PMID:11426023 PMID:11426023 RGD:7829718, RGD:7829718 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility
ISO DNA:SNPs: :multiple (human)
DNA:SNP, haplotype:intron: (rs909253) (human)
protein:increased expression:saliva, serum
RGD PMID:20952683 PMID:22294627 PMID:22294627 PMID:20952683 RGD:8548776, RGD:8548787, RGD:8548787, RGD:8548776 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:270150 MouseDO NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:15316122 PMID:9923658 RGD:8547814, RGD:8547858 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Muc16 mucin 16, cell surface associated ISO mRNA, protein:increased expression:conjunctival epithelial cell, tear RGD PMID:19122828 RGD:7364772 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc19 mucin 19, oligomeric ISO
ISS
mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150
MouseDO
RGD
PMID:18184611 RGD:7364736 NCBI chr 7:123,017,896...123,139,053
Ensembl chr 7:123,017,896...123,139,053
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nfkbia NFKB inhibitor alpha ISS
ISO
OMIM:270150 MouseDO
RGD
PMID:20696914 RGD:126908016 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16163373 PMID:15933742 RGD:11534998, RGD:11534999 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837
JBrowse link
G Reg1a regenerating family member 1 alpha ISO protein:increased expression:minor salivary gland, salivary ductal epithelium (human) RGD PMID:19016805 RGD:9850137 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
JBrowse link
G Rorc RAR-related orphan receptor C ISS OMIM:270150 MouseDO NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;
RGD PMID:11555411 PMID:21315052 RGD:5147809, RGD:7421543 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)
RGD PMID:21315052 PMID:17489060 PMID:8468491 RGD:7421543, RGD:36174022, RGD:7483566 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0301 (human) RGD PMID:11555411 RGD:5147809 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Satb1 SATB homeobox 1 ISS OMIM:270150 MouseDO NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISS OMIM:270150 MouseDO NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:intron: (rs7582694) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs7574865) (human)
CTD
RGD
PMID:24097066 PMID:24097067 PMID:20535138 PMID:20360187 PMID:18273036 RGD:8661690, RGD:8661709, RGD:8661708 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO
ISS
OMIM:270150 MouseDO
RGD
PMID:9358754 PMID:7554451 RGD:7394829, RGD:7394845 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbs1 thrombospondin 1 ISS OMIM:270150 MouseDO NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP
DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762 PMID:24941846 RGD:7394766, RGD:10450595 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tnfsf13b TNF superfamily member 13b ISS OMIM:270150 MouseDO NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:270150 MouseDO NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
Sjögren-Mikulicz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:10616008 RGD:5491001 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD
ClinVar
OMIM
PMID:25741868 PMID:30374066 PMID:30429576 PMID:30792187 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
JBrowse link
Systemic Juvenile Rheumatoid Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Il6 interleukin 6 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:18358927 RGD:10402823 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Mif macrophage migration inhibitory factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
systemic lupus erythematosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19109165 RGD:5686827 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) RGD PMID:22513366 RGD:6767309 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:21900645 RGD:6892717 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Anxa3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:12,727,708...12,781,717
Ensembl chr14:12,719,795...12,781,617
JBrowse link
G Apoa1 apolipoprotein A1 treatment
severity
ISO RGD PMID:20482780 PMID:20131231 RGD:7241863, RGD:7241864 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Atg5 autophagy related 5 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209
JBrowse link
G Atg7 autophagy related 7 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs:introns:
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18204447 PMID:18204447 RGD:9684976 NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G Becn1 beclin 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO DNA:snp:promoter:rs13277113 (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18204098 PMID:19667185 PMID:19838193 PMID:24023612 PMID:25741868 More... RGD:2316189 NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031
JBrowse link
G Bltp3a bridge-like lipid transfer protein family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr20:5,910,261...5,954,641
Ensembl chr20:5,910,260...5,952,404
JBrowse link
G C1qa complement C1q A chain ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD
MouseDO
PMID:8840296 NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
JBrowse link
G C2 complement C2 ISO RGD PMID:6409476 RGD:7421516 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7510492 RGD:11040772 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C3ar1 complement C3a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G C4a complement C4A ISO RGD PMID:17503323 RGD:5688260 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
JBrowse link
G C4b complement C4B ISO
ISS
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO
RGD
PMID:17503323 RGD:5688260 NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681
JBrowse link
G C5ar1 complement C5a receptor 1 ISO protein:increased expression:lung, leukocyte RGD PMID:17544263 RGD:5129560 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Cast calpastatin ISO RGD PMID:12367559 RGD:5683623 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27497885 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility
no_association
ISO DNA:snp:promoter:g.-2518A>G (human) RGD PMID:20414371 PMID:11844145 RGD:11528535, RGD:11528536 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 disease_progression ISO protein:increased expression:serum RGD PMID:16924394 RGD:5683895 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 severity ISO RGD PMID:21180278 RGD:6893428 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd226 CD226 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051
JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP: :rs4810485 (human)
DNA:SNP: :rs3765456 (human)
RGD PMID:21914625 PMID:23256180 RGD:5490522, RGD:7248721 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO
ISS
protein:increased expression:serum
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:28793932 PMID:20726330 PMID:9036998 RGD:7248426, RGD:11352248 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd46 CD46 molecule severity ISO mRNA:increased expression:leukocyte (human) RGD PMID:22247341 RGD:6483457 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:20653937 RGD:6902898 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Cfh complement factor H susceptibility ISO RGD PMID:21637784 RGD:5684554 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A ISO RGD PMID:24836587 RGD:9587742 NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator resistance
no_association
ISO DNA:polymorphism:intron:g.485A>G (human)
DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) (human)
DNA:polymorphism:promoter:rs3087456 (human)
RGD PMID:15897313 PMID:17693604 PMID:17711409 RGD:5491190, RGD:5491204, RGD:5491203 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Clu clusterin ISO protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15304052 PMID:10090169 RGD:8696021 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Cr2 complement C3d receptor 2 ISO protein:decreased expression:B cell
ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26325596 More... RGD:127285806 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
G Crp C-reactive protein disease_progression
treatment
no_association
ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8261665 PMID:17718048 PMID:17014014 PMID:20039408 PMID:8261665 RGD:6909144, RGD:6907402, RGD:6909146, RGD:6909144 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:15383612 RGD:7257578 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Csk C-terminal Src kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042117 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 disease_progression ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:polymorphisms:exons:Japanese(human)
OMIM
CTD
ClinVar
RGD
PMID:8817351 PMID:9259273 PMID:9398726 PMID:10189842 PMID:10475192 More... RGD:7204684, RGD:7204691 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 severity ISO mRNA:increased expression:blood, mononuclear cell RGD PMID:21180278 RGD:6893428 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:14596426 RGD:7257684 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cybb cytochrome b-245 beta chain ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphism:3' utr:3801T>C (rs4646903)
DNA:SNP: :4887C>A (human)
DNA:SNP: :p.I462V (human)
RGD PMID:19561157 PMID:14611903 PMID:10599336 RGD:5147672, RGD:1581249, RGD:5147680 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Def6 DEF6 guanine nucleotide exchange factor ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD
MouseDO
PMID:26808113 NCBI chr20:6,268,579...6,290,030
Ensembl chr20:6,268,601...6,289,961
JBrowse link
G Dnase1 deoxyribonuclease 1 susceptibility ISO
ISS
ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:10835632 PMID:11479590 PMID:15333586 PMID:18486922 PMID:24206041 More... NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22019780 NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
JBrowse link
G Dnmt1 DNA methyltransferase 1 no_association ISO mRNA:decreased expression:T cell: RGD PMID:21595664 PMID:18194272 RGD:9588656, RGD:9588670 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32190976 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Ep300 E1A binding protein p300 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:23151030 RGD:11041604 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:SNP: :rs4986938 (human)
mRNA:decreased expression:leukocyte,mononuclear
DNA:repeats:intron:
mRNA:increased expression: :
RGD PMID:20961965 PMID:17336162 PMID:17874259 PMID:20305046 PMID:20627037 RGD:5508738, RGD:5508844, RGD:5508843, RGD:5508817, RGD:5508813 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
JBrowse link
G F2 coagulation factor II, thrombin susceptibility ISO DNA:SNP: :19911A>G (rs3136516) (human) RGD PMID:21239755 PMID:20807656 RGD:5147772, RGD:5147776 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO
ISS
DNA:snps:promoter:g.-1377G>A, g.-670A>G (human)
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
protein:increased expression:T lymphocyte:
protein:increased expression:serum (human)
CTD
MouseDO
RGD
PMID:36999444 PMID:23053964 PMID:7531628 PMID:9182923 RGD:8662433, RGD:11049450, RGD:8662437 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.H131R (human)
protein:decreased expression:blood, monocyte
DNA:SNP (human)
OMIM
CTD
RGD
PMID:18204446 PMID:21719445 PMID:8254199 PMID:11561111 PMID:14747618 More... RGD:5147916, RGD:5147984, RGD:5147979, RGD:5147976, RGD:5147973, RGD:5147972, RGD:5147926 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fcgr2b Fc gamma receptor 2B susceptibility
no_association
severity
treatment
ISO
ISS
DNA:snps, haplotype:promoter:g.-386G>C, g.-120T>A (human)
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human)
DNA:SNP:intron:11045G>T (rs12117530) (human)
DNA:snp:promoter:g.-386G>C (rs3219018) (human)
OMIM
MouseDO
CTD
ClinVar
RGD
PMID:12115230 PMID:15459183 PMID:15895258 PMID:16115811 PMID:16170323 More... RGD:1547879, RGD:11056171, RGD:11056171, RGD:9588603, RGD:9588566, RGD:7240540, RGD:1547880 NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO protein:decreased expression:NK cell
DNA:CNVs
DNA:SNPs:exon:rs403016,rs428888(human)
RGD PMID:21370226 PMID:25154742 PMID:18625651 RGD:5508389, RGD:11344974, RGD:5508444 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 4:96,154,789...96,157,091
Ensembl chr 4:96,154,789...96,157,115
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20226777 RGD:5490989 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP: :rs1043618 (human) RGD PMID:20498198 RGD:5147600 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNPs: :rs2075800, rs2227956 (human) RGD PMID:20498198 RGD:5147600 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD
MouseDO
PMID:19838195 PMID:24686847 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:leukocyte,mononuclear
mRNA:increased expression:kidney (human)
protein:increased expression:renal glomerulus
RGD PMID:22759859 PMID:22660635 PMID:29925830 RGD:6893373, RGD:155663483, RGD:14974252 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19838195 PMID:20728533 PMID:12486603 RGD:1580478 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 PMID:26808113 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human)
mRNA:increased expression:kidney (human)
RGD PMID:20493423 PMID:22660635 RGD:8698667, RGD:155663483 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human)
mRNA:increased expression:kidney (human)
RGD PMID:15470475 PMID:22660635 RGD:7401214, RGD:155663483 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:plasma (human)
DNA:polymorphism:exon:g.14709C>T rs315952 (human)
RGD PMID:20805419 PMID:17176440 RGD:6906963, RGD:6907356 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21 interleukin 21 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs907715) (human)
CTD
RGD
PMID:17911475 PMID:23236436 RGD:127285363 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il21r interleukin 21 receptor ISO CTD Direct Evidence: therapeutic
DNA:polymorphism: : rs3093301 (human)
CTD
RGD
PMID:17911475 PMID:20424514 PMID:19164519 PMID:19644854 RGD:6892931, RGD:6892937, RGD:6892933 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:T cell: RGD PMID:21110900 RGD:8549601 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23054011 RGD:7241039 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18158872 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Inpp5d inositol polyphosphate-5-phosphatase D ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 9:88,287,680...88,392,748
Ensembl chr 9:88,287,677...88,392,746
JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28003376 NCBI chr 7:125,682,502...125,708,294
Ensembl chr 7:125,682,488...125,717,837
JBrowse link
G Irf5 interferon regulatory factor 5 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus, association with susceptibility to, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10
CTD
OMIM
ClinVar
PMID:15657875 PMID:16642019 PMID:17189288 PMID:17393452 PMID:17476532 More... NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Irf8 interferon regulatory factor 8 susceptibility ISO DNA:SNP: (rs4843869) (human) RGD PMID:27021335 RGD:329961559 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 PMID:18204448 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
JBrowse link
G Jak1 Janus kinase 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21880982 RGD:6483022 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Jazf1 JAZF zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr 4:81,879,501...82,183,237
Ensembl chr 4:81,881,061...82,183,100
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
JBrowse link
G Lbr lamin B receptor ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
JBrowse link
G Ldlr low density lipoprotein receptor ISO mRNA:decreased expression:leukocyte RGD PMID:19811272 RGD:5490253 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868
JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 9:104,252,001...104,408,349
Ensembl chr 9:104,252,001...104,408,349
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:exon
DNA:SNP,haplotype:cds:p.G54D,G57E(human)
RGD PMID:21510992 PMID:11561111 RGD:6903266, RGD:5147979 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir146a microRNA 146a ISO mRNA:increased expression:kidney (human)
mRNA:increased expression:kidney (mouse)
RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir196a microRNA 196a EXP CTD Direct Evidence: marker/mechanism CTD PMID:27816459 NCBI chr 7:134,110,400...134,110,509
Ensembl chr 7:134,110,400...134,110,509
JBrowse link
G Mir23b microRNA 23b treatment ISO mRNA, protein:decreased expression:kidney (human)
mRNA:decreased expression:kidney (human)
RGD PMID:22660635 PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483, RGD:155663483 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:21693493 RGD:6483529 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Mmd monocyte to macrophage differentiation-associated ISO associated with Pregnancy Complications;mRNA:increased expression:blood (human) RGD PMID:31684818 RGD:155630630 NCBI chr10:75,073,278...75,101,528
Ensembl chr10:75,073,365...75,101,528
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:transition:cds:m.9055A>G (human) RGD PMID:18708297 RGD:5490259 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mta2 metastasis associated 1 family, member 2 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 1:205,838,181...205,846,903
Ensembl chr 1:205,837,964...205,846,946
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO protein:increased expression:monocyte
DNA:mutation:cds:p.G908R (rs2066845)(human)
RGD PMID:21886831 PMID:16642031 RGD:5508746, RGD:13204710 NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA:increased expression:bone marrow macrophage (mouse) RGD PMID:22011580 RGD:5508848 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15304052 PMID:15304052 RGD:6480537 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:17182544 RGD:11074797 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pcnx3 pecanex 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
JBrowse link
G Pdcd1 programmed cell death 1 susceptibility ISO
ISS
DNA:polymorphism: : 7,146 G>A (human)
ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:12402038 PMID:15912506 PMID:17228327 PMID:19116915 RGD:7248674, RGD:7248679 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:serum RGD PMID:19276301 RGD:6483612 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:16365454 RGD:6482698 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Pld4 phospholipase D family, member 4 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
JBrowse link
G Polb DNA polymerase beta ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppp2r2b protein phosphatase 2, regulatory subunit B, beta ISO RGD PMID:21746932 RGD:5686291 NCBI chr18:34,653,716...35,080,889
Ensembl chr18:34,653,721...35,081,025
JBrowse link
G Prdm1 PR/SET domain 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD
MouseDO
PMID:19838195 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
JBrowse link
G Prf1 perforin 1 severity ISO RGD PMID:21906646 RGD:6482798 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14870917 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17761345 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility ISO DNA:missense mutation:cds:p.R620W (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:c.1858C>T (human)
DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) (human)
DNA:missense mutation:cds:p.R263Q (human)
OMIM
ClinVar
CTD
RGD
PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... RGD:5147973, RGD:11534992, RGD:11533999, RGD:11532755 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Pxk PX domain containing serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18204446 NCBI chr15:16,759,857...16,828,452
Ensembl chr15:16,759,862...16,828,444
JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
CTD
MouseDO
PMID:26808113 NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
JBrowse link
G Rasgrp3 RAS guanyl releasing protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr 6:19,895,361...19,993,945
Ensembl chr 6:19,895,390...19,958,578
JBrowse link
G Rassf5 Ras association domain family member 5 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
JBrowse link
G Retn resistin ISO RGD PMID:21885493 RGD:7207148 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Ro60 Ro60, Y RNA binding protein ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr13:55,499,514...55,520,504
Ensembl chr13:55,499,534...55,520,504
JBrowse link
G Rpl12 ribosomal protein L12 ISO RGD PMID:11161982 RGD:11035232 NCBI chr 3:16,264,269...16,266,645
Ensembl chr 3:16,264,251...16,266,642
JBrowse link
G Rpl14 ribosomal protein L14 ISO RGD PMID:12051391 RGD:11036103 NCBI chr 8:120,286,035...120,289,160
Ensembl chr 8:120,284,645...120,289,064
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
RGD PMID:12651073 PMID:21658414 PMID:18552411 RGD:40902999, RGD:5147560, RGD:5147620 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms:cds:HLA-DRB1*0301 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*1501 (human)
RGD
CTD
PMID:11436868 PMID:12651073 PMID:21658414 PMID:20191587 RGD:40902999, RGD:5147560, RGD:5147581 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Rubcn rubicon autophagy regulator ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
JBrowse link
G Rxra retinoid X receptor alpha ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression:serum RGD PMID:19833760 RGD:4143493 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838195 NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Siglec5 sialic acid binding Ig-like lectin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:93,768,190...93,776,696
Ensembl chr 1:93,768,319...93,776,694
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr: (human) RGD PMID:21233146 RGD:5684928 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc15a4 solute carrier family 15 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 NCBI chr12:29,048,634...29,082,480
Ensembl chr12:29,063,015...29,082,480
JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO RGD PMID:10940910 PMID:22454191 RGD:10448935, RGD:10448939 NCBI chr 1:95,856,038...95,876,434
Ensembl chr 1:95,856,036...95,876,392
JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO RGD PMID:8647956 RGD:10766446 NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638
JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide severity IDA mouse model RGD PMID:12571858 RGD:10755713 NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
JBrowse link
G Snrpd2 small nuclear ribonucleoprotein D2 polypeptide ISO RGD PMID:11823543 RGD:10766471 NCBI chr 1:78,798,377...78,801,227
Ensembl chr 1:78,798,377...78,803,351
JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide ISO RGD PMID:17640359 RGD:10755704 NCBI chr20:13,130,112...13,145,947
Ensembl chr20:13,130,119...13,145,978
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus ClinVar
RGD
PMID:33087723 PMID:14499118 RGD:150573686 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Sod2 superoxide dismutase 2 ISO DNA:SNP, haplotype: :1183C>T (human) RGD PMID:14611903 RGD:1581249 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
onset
treatment
ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11
CTD Direct Evidence: marker/mechanism
DNA:SNPs:intron:multiple (human)
DNA:SNPs:introns:c.274-23582A>C, c.274-2691G>A, c.466-1307G>A (rs7574865, rs11889341, rs10168266) (human)
DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)
DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)
DNA:SNP:intron:c.274-29069G>C (rs7582694) (human)
OMIM
ClinVar
CTD
RGD
PMID:17804842 PMID:18204446 PMID:19109131 PMID:19838193 PMID:19838195 More... RGD:7207867, RGD:7207881, RGD:7207879, RGD:7207878, RGD:7207877, RGD:7207874, RGD:7207869 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Syngr1 synaptogyrin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 7:111,635,911...111,659,341
Ensembl chr 7:111,635,918...111,659,341
JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:22660635 RGD:155663483 NCBI chr  X:49,972,414...50,044,658
Ensembl chr  X:49,972,330...50,042,056
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member no_association ISO RGD PMID:9014588 RGD:6482277 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility
no_association
ISO RGD PMID:12634240 PMID:9014588 RGD:6482273, RGD:6482277 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
JBrowse link
G Tcf7 transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr10:36,423,443...36,454,350
Ensembl chr10:36,423,445...36,453,535
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26808113 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:11709459 RGD:11060258 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:18484695 RGD:5684995 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Timd4 T-cell immunoglobulin and mucin domain containing 4 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:31,185,751...31,221,843
Ensembl chr10:31,185,731...31,220,966
JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:19841185 RGD:7241088 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr5 toll-like receptor 5 susceptibility ISO ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:14623910 PMID:16027372 PMID:23447684 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
JBrowse link
G Tlr7 toll-like receptor 7 ISS
ISO
OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420
ClinVar Annotator: match by term: Systemic lupus erythematosus
MouseDO
ClinVar
PMID:35477763 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr9 toll-like receptor 9 susceptibility
severity
ISO DNA:snp:exon:c.1635C>T rs352140 (human)
mRNA:increased expression:B lymphocyte (mouse)
RGD PMID:19130296 PMID:21592581 PMID:16973389 RGD:5130767, RGD:7246894, RGD:7245988 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
mRNA:increased expression:kidney (human)
ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
DNA:polymorphisms, haplotype:promoter:multiple (human)
ClinVar
RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... RGD:7245570, RGD:155663483, RGD:7245571 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165918 PMID:19165919 PMID:19838193 PMID:21336280 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:serum RGD PMID:8393677 RGD:7245539 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity
no_association
ISO protein:increased expression:serum
DNA:missense mutation:cds:p.M196R (human)
RGD PMID:8393677 PMID:11607787 RGD:7245539, RGD:7245571 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18059267 PMID:19838193 NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838193 PMID:19838195 NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 MouseDO NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to
CTD
OMIM
ClinVar
PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO RGD PMID:18693542 RGD:7241211 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
JBrowse link
Systemic Lupus Erythematosus 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1l3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus 16 OMIM
ClinVar
PMID:21692081 PMID:22019780 PMID:24206041 PMID:25741868 PMID:27821515 More... NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
JBrowse link
Systemic Lupus Erythematosus 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr7 toll-like receptor 7 ISO ClinVar Annotator: match by term: Systemic lupus erythematosus 17 OMIM
ClinVar
PMID:28492532 PMID:35477763 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
systemic scleroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:decreased expression:plasma GAD
RGD
PMID:15118671 PMID:17360781 RGD:1331525, RGD:8548889 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased expression:plasma (human) RGD PMID:12935979 RGD:10449040 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:serum RGD PMID:18825489 PMID:18825489 RGD:8695973, RGD:8695973 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen ISO protein:decreased expression:plasma RGD PMID:17360781 RGD:8548889 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Anxa5 annexin A5 severity ISO RGD PMID:21124692 RGD:7242029 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO protein:increased expression:saliva (human) RGD PMID:17722226 RGD:11049167 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 susceptibility ISO DNA:SNPs: :rs10516487,rs17266594(human) RGD PMID:19815934 RGD:9684975 NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:decreased expression:serum: RGD PMID:21085492 RGD:5144060 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cav1 caveolin 1 susceptibility ISO DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human)
protein:decreased expression:lung, skin
RGD PMID:22402147 PMID:18759267 RGD:8661768, RGD:8661773 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:serum
RGD PMID:19615053 PMID:21049277 PMID:21285114 RGD:4891453, RGD:5135284, RGD:5683876 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:21285114 RGD:5683876 NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccn1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:23142052 RGD:9479741 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO mRNA:increased expression:skin RGD PMID:21742595 RGD:7483587 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Cd247 Cd247 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
JBrowse link
G Cd86 CD86 molecule ISO DNA:snp:5' utr:g.-3479T>G (human) RGD PMID:16790753 RGD:4892554 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Cfb complement factor B ISO protein:increased expression:plasma RGD PMID:2803327 RGD:7421518 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:16195162 RGD:4892666 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Clu clusterin ISO protein:increased expression:serum RGD PMID:22350181 RGD:8898558 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27228633 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:1697606 RGD:5688336 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24706986 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISS OMIM:181750 MouseDO NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Cp ceruloplasmin ISO protein:increased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Csf1 colony stimulating factor 1 IEP mRNA:increased expression:skin RGD PMID:22700848 RGD:7257593 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15608300 RGD:4891898 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:lung, skin
DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD PMID:15608300 PMID:23142052 PMID:16584113 RGD:4891898, RGD:9479741, RGD:4891896 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:serum RGD PMID:21303517 PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl16 C-X-C motif chemokine ligand 16 ISO protein:increased expression:serum, skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr10:55,166,721...55,171,316
Ensembl chr10:55,166,723...55,171,592
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:serum RGD PMID:21303517 PMID:21049277 RGD:5135279, RGD:5135284 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:decreased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO protein:increased expression:skin, endothelial cell RGD PMID:21303517 RGD:5135279 NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human) RGD PMID:7653485 RGD:4145072 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Eln elastin ISO RGD PMID:22563211 RGD:9585742 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Esr1 estrogen receptor 1 susceptibility ISO DNA:SNP:intron: RGD PMID:19032828 RGD:8553058 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNP:exon: RGD PMID:19032828 RGD:8553058 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G F11r F11 receptor ISO RGD PMID:19153103 RGD:7488918 NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma: RGD PMID:9374919 RGD:11565087 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fbn1 fibrillin 1 susceptibility ISO
ISS
OMIM:181750
DNA:insertion:5' utr
MouseDO
RGD
PMID:11123012 PMID:10395706 PMID:12384286 RGD:7387265, RGD:12910471, RGD:12904889 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISS OMIM:181750 MouseDO NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO protein:increased expression:skin: RGD PMID:21865112 RGD:8552335 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISS OMIM:181750 MouseDO NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
JBrowse link
G Fstl1 follistatin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:missense mutation:cds:p.K173N (human) RGD PMID:15135176 RGD:12798510 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
JBrowse link
G Hgf hepatocyte growth factor treatment
severity
ISO protein:increased expression:serum:
mRNA:increased expression:skin:
RGD PMID:17049072 PMID:24387171 PMID:22286923 RGD:8548624, RGD:8548659, RGD:8548651 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18825489 RGD:8695973 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565
JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO RGD PMID:21569507 RGD:9999440 NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO protein:increased expression:blood RGD PMID:18759276 PMID:8099861 PMID:1371389 RGD:8158120, RGD:8547587, RGD:8547576 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:1418004 RGD:8157622 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum: RGD PMID:19004037 RGD:12743606 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il13 interleukin 13 no_association ISO mRNA, protein:increased expression:skin
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
protein:increased expression:serum
RGD PMID:15564778 PMID:22045834 PMID:9034992 RGD:5684370, RGD:8549502, RGD:5684371 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 no_association ISO DNA:SNP:intron:43163G>A (rs6646259) (human) RGD PMID:22045834 RGD:8549502 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis, endodermis, mast cell (human) RGD PMID:22833167 PMID:23335253 RGD:8696037, RGD:8696038 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1b interleukin 1 beta susceptibility ISO DNA:polymorphisms:promoter:-31T>C,-511C>T (human) RGD PMID:17444587 RGD:4142872 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO RGD PMID:1375465 RGD:8662902 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:2213757 RGD:8663482 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs: :rs11209026, rs11465804 (human)
DNA:SNPs: :rs11209032,rs1495965(human)
RGD PMID:19918037 PMID:18713787 RGD:5096624, RGD:8549603 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:serum RGD PMID:20705635 RGD:5128477 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
JBrowse link
G Il27ra interleukin 27 receptor subunit alpha ISO mRNA:increased expression:skin RGD PMID:20705635 RGD:5128477 NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum
mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma
RGD PMID:9034992 PMID:10473513 RGD:5684371, RGD:7829819 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:23406616 RGD:12792238 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irf5 interferon regulatory factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO protein:increased expression:skin
protein:decreased expression:skin, endothelial cell
RGD PMID:23001478 PMID:19439502 RGD:7488920, RGD:7488937 NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
JBrowse link
G Kdr kinase insert domain receptor ISO protein:decreased expression:bone marrow:
protein:increased expression:skin:
RGD PMID:22271757 PMID:21865112 RGD:8551843, RGD:8552335 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Lta lymphotoxin alpha susceptibility ISO DNA:SNP:intron:252A>G (human) RGD PMID:10600011 RGD:8548796 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mmp1 matrix metallopeptidase 1 severity ISO mRNA:decreased expression:skin
protein:increased expression:serum
RGD PMID:22286923 PMID:12051403 RGD:8548651, RGD:8693663 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp3 matrix metallopeptidase 3 severity ISO protein:increased expression:serum RGD PMID:12051403 PMID:15498049 RGD:8693663, RGD:8693674 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:15642145 RGD:1580577 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:19286849 RGD:4143496 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:10599336 RGD:5147680 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27482699 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:21085492 RGD:5144060 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Notch4 notch receptor 4 ISO DNA: SNPs: non-coding :multiple RGD PMID:21779181 RGD:6480691 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:superficial vasculature (human) RGD PMID:20228226 RGD:11541095 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pf4 platelet factor 4 severity ISO RGD PMID:34556381 RGD:329901818 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:21979415 RGD:5508306 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation:cds:p.R620W (rs2476601) (human)
RGD PMID:21131644 PMID:16464986 RGD:6484551, RGD:7829741 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO associated with Raynaud disease and interstitial lung disease; protein:decreased expression:blood serum (human) RGD PMID:22211766 RGD:329845579 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Rhob ras homolog family member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:20383147 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29033951 NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795
JBrowse link
G Selenop selenoprotein P ISO protein:decreased expression:serum RGD PMID:32630589 RGD:401827129 NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:dermis,microvessel: RGD PMID:26414805 RGD:11343779 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf2 serpin family F member 2 ISO protein:increased expression:plasma RGD PMID:12595617 RGD:1625530 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25707573 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Sirt7 sirtuin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25707573 NCBI chr10:105,896,476...105,903,301
Ensembl chr10:105,896,476...105,903,172
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat, polymorphism:promoter, intron: (human) RGD PMID:17876529 RGD:5684940 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs11889341) (human)
CTD
RGD
PMID:20383147 PMID:19644887 PMID:19950257 RGD:8661700, RGD:8661711 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISS OMIM:181750 MouseDO NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21750679 NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:skin
protein:increased expression:bone marrow:
protein:increased expression:serum:
mRNA,protein:increased expression:skin:
RGD PMID:16426919 PMID:22271757 PMID:24387171 PMID:21636803 RGD:5684416, RGD:8551843, RGD:8548659, RGD:7421579 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vwf von Willebrand factor severity ISO RGD PMID:22596213 RGD:7205639 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
Temporomandibular Joint Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
JBrowse link
G Becn1 beclin 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Casp12 caspase 12 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression IEP RGD PMID:28147322 RGD:155791443 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
JBrowse link
G Fas Fas cell surface death receptor IEP mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta IEP RGD PMID:31007149 RGD:34888237 NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
JBrowse link
G Rps6 ribosomal protein S6 IEP RGD PMID:31007149 RGD:34888237 NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602
JBrowse link
vitiligo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
JBrowse link
G C3 complement C3 ISO RGD PMID:12121667 RGD:7401277 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C4a complement C4A ISO associated with Graves Disease RGD PMID:21943165 RGD:5688264 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
JBrowse link
G Casp7 caspase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
JBrowse link
G Cat catalase susceptibility
no_association
ISO DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)
protein:decreased activity:skin:
DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)
RGD PMID:20613769 PMID:19439879 PMID:23868633 RGD:9479149, RGD:9479169, RGD:9479150 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
G Cd80 Cd80 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G Clnk cytokine-dependent hematopoietic cell linker ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr14:71,923,894...72,101,180
Ensembl chr14:71,873,105...72,101,208
JBrowse link
G Clu clusterin ISO RGD PMID:7558712 RGD:8699503 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Comt catechol-O-methyltransferase no_association ISO DNA:polymorphism: :p.V158M (human) RGD PMID:19112571 PMID:24915010 RGD:8662333, RGD:8662336 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility
no_association
ISO associated with Autoimmune Diseases;DNA:polymorphisms: :
DNA:SNP:exon:+49A>G rs231775)(human)
DNA:SNPs:multiple:
DNA:SNP:3'UTR:rs3087243(human)
RGD PMID:15649153 PMID:19129082 PMID:18200060 PMID:21794098 RGD:7411687, RGD:7411699, RGD:7411697, RGD:7411696 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Esr1 estrogen receptor 1 susceptibility
no_association
ISO DNA:SNP:intron
DNA:SNP:exon
RGD PMID:15381239 PMID:15381239 RGD:8552976, RGD:8552976 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Foxd3 forkhead box D3 susceptibility ISO ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 1 ClinVar
OMIM
PMID:16098053 NCBI chr 5:114,335,084...114,337,450
Ensembl chr 5:114,335,408...114,336,817
JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526340 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:16117796 RGD:8548598 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A treatment ISO RGD PMID:23447019 RGD:8662840 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Ifng interferon gamma susceptibility
onset
ISO DNA:repeats:intron:rs3138557(human)
DNA:polymorphism:intron:rs2430561(human)
RGD PMID:23777204 PMID:23777204 RGD:8157616, RGD:8157616 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:23680073 RGD:8549591 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:28836394 PMID:16911396 RGD:7794736 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar PMID:28492532 PMID:32628964 PMID:32888943 NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Vitiligo ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
no_association
ISO DNA:polymorphism:exon:
DNA:polymorphisms:promoter, exon:
RGD PMID:17337399 PMID:19416237 RGD:8693723, RGD:8693724 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 ClinVar
OMIM
PMID:17377159 PMID:25741868 PMID:27662089 PMID:28492532 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28836394 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14551602 RGD:1578358 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp : cds: rs2476601
DNA:polymorphism: :1858C>T (p.R620W) (human)
RGD PMID:16015369 PMID:18426414 RGD:6484552, RGD:7829737 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:: HLA-DQA1*0302, HLA-DQA1*0601, HLA-DQA1*0501; RGD PMID:16409268 RGD:8547566 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism:HLA-DQB1*0201(human)
RGD PMID:16420246 PMID:9653015 RGD:5147644, RGD:36174006 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms (human)
DNA:polymorphism: : HLA-DRB1*0701(human)
RGD PMID:16420246 PMID:9653015 RGD:5147644, RGD:36174006 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Sla src-like adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
JBrowse link
G Sod2 superoxide dismutase 2 disease_progression ISO DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) RGD PMID:24036105 RGD:8547522 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:serum: RGD PMID:22342018 RGD:8663475 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO DNA:polymorphism:exon:p.R753Q(human) RGD PMID:22429552 RGD:7777152 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:22429552 RGD:7777152 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:28836394 PMID:16911396 RGD:7794736 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561518 NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
JBrowse link
G Tyr tyrosinase severity ISO RGD PMID:22834951 PMID:8697641 RGD:8694387, RGD:8694409 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:exon:rs2228570 (human)
DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)
RGD PMID:22738935 PMID:22762534 PMID:22762534 RGD:8158061, RGD:8158066, RGD:8158066 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
Vogt-Koyanagi-Harada disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO associated with uveitis;protein:increased expression:aqueous humor: RGD PMID:21334264 RGD:8142356 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Itgb2 integrin subunit beta 2 ISO protein:decreased expression:T cell RGD PMID:21297967 RGD:6482200 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0301 RGD PMID:11835809 RGD:8547565 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human)
DNA:snps:promoter:g.-227G>A, g.-189C>A (human)
RGD PMID:17605936 PMID:19176112 RGD:7421525, RGD:7421581 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism: :HLA-DRB1*0405(human)
DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human)
DNA:polymorphisms (human)
RGD PMID:15603876 PMID:9548078 PMID:20216938 PMID:10527396 RGD:5147653, RGD:7365099, RGD:7365067, RGD:5147857 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:20438790 RGD:8661713 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Tnf tumor necrosis factor ISO associated with uveitis;protein:increased expression:aqueous humor: RGD PMID:21334264 RGD:8142356 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      musculoskeletal system disease 8468
        autoimmune disease of musculoskeletal system 1000
          Lambert-Eaton myasthenic syndrome 3
          ankylosing spondylitis + 37
          autoimmune disease of skin and connective tissue + 194
          juvenile ankylosing spondylitis 0
          lupus erythematosus + 214
          mixed connective tissue disease 8
          myasthenia gravis + 34
          polymyositis + 43
          reactive arthritis 5
          relapsing polychondritis + 2
          rheumatic disease + 785
          rheumatoid arthritis interstitial lung disease 0
Path 2
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      Immune & Inflammatory Diseases 5734
        immune system disease 4924
          primary immunodeficiency disease 4302
            autoimmune disease 2361
              autoimmune disease of musculoskeletal system 1000
                Lambert-Eaton myasthenic syndrome 3
                ankylosing spondylitis + 37
                autoimmune disease of skin and connective tissue + 194
                juvenile ankylosing spondylitis 0
                lupus erythematosus + 214
                mixed connective tissue disease 8
                myasthenia gravis + 34
                polymyositis + 43
                reactive arthritis 5
                relapsing polychondritis + 2
                rheumatic disease + 785
                rheumatoid arthritis interstitial lung disease 0
paths to the root