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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)
For additional species annotation, visit the Alliance of Genome Resources.


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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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20596022, PMID:23567921 RGD:7411701 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:139,280,396...139,319,108
Ensembl chr 7:139,281,187...139,318,455
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 7:3,061,422...3,098,142
Ensembl chr 7:3,061,469...3,074,359
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574, PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:136,967,650...137,014,402
Ensembl chr 5:136,967,650...137,014,430
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:222,164,462...222,167,447
Ensembl chr 1:222,164,462...222,167,447
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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:63,866,346...63,926,276
Ensembl chr 5:63,870,432...63,922,730
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22138694, PMID:23308121 RGD:9684849 NCBI chr 7:137,142,063...137,335,208
Ensembl chr 7:137,142,170...137,335,208
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062, PMID:21743469 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr17:14,655,958...14,681,355
Ensembl chr17:14,656,009...14,679,409
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:22422197, PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 9:46,840,646...46,881,241
Ensembl chr 9:46,840,992...46,881,264
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
CTD PMID:17952073, PMID:20062062, PMID:19522770, PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469, PMID:21743469 RGD:6483530 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:85,071,058...85,085,596
Ensembl chr10:85,071,064...85,084,850
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1564308 similar to LOC495042 protein ISO ClinVar Annotator: match by term: Hip dysplasia, beukes type ClinVar PMID:2389793, PMID:21228277, PMID:26428751 NCBI chr16:49,485,022...49,509,756
Ensembl chr16:49,485,256...49,509,767
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP
ClinVar Annotator: match by term: Hip dysplasia, beukes type
OMIM
ClinVar
PMID:2389793, PMID:21228277, PMID:25741868, PMID:26428751, PMID:28892125 NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985
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 chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Cfb complement factor B ISO RGD PMID:17024247 RGD:7421522 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISS MouseDO NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:1377725 RGD:8547591 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:1973607 RGD:8663461 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:9687525 RGD:8547843 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 OMIM
ClinVar
PMID:7594474, PMID:8840296, PMID:9225968, PMID:21654842, PMID:28492532 NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: C1q deficiency
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:2894352, PMID:17513176, PMID:21654842, PMID:24160257, PMID:25741868, PMID:28492532 NCBI chr 5:155,246,444...155,251,995
Ensembl chr 5:155,246,447...155,252,003
JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: C1q deficiency
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:7029321, PMID:7900940, PMID:8630118, PMID:21654842, PMID:24157463 NCBI chr 5:155,255,013...155,258,631
Ensembl chr 5:155,255,005...155,258,392
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:23602593, PMID:24183309, PMID:25582466, PMID:25741868, PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISS OMIM:610448 | OMIM:614415 MouseDO NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Trex1 three prime repair exonuclease 1 ISS
ISO
OMIM:610448 | OMIM:614415
ClinVar Annotator: match by term: Chilblain Lupus
MouseDO
ClinVar
PMID:23602593, PMID:24183309, PMID:25582466, PMID:25741868, PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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:16960810, PMID:17357087, PMID:17440703, PMID:18805785, PMID:20799324, PMID:20871604, PMID:21808053, PMID:22829693, PMID:23989343, PMID:25848017, PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27566796 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Chilblain lupus 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610448
OMIM
ClinVar
CTD
PMID:16960810, PMID:17357087, PMID:17440703, PMID:18805785, PMID:20799324, PMID:20871604, PMID:21808053, PMID:22829693, PMID:23989343, PMID:25848017, PMID:27566796, PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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 OMIM
ClinVar
PMID:19525956, PMID:20653736, PMID:21204240, PMID:22461318, PMID:22691373, PMID:22973040, PMID:24033266, PMID:25604658, PMID:25741868, PMID:26467025, PMID:27604406, PMID:28229507, PMID:28492532, PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Chilblain lupus 2 ClinVar NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum (human) RGD PMID:11448121 RGD:8549794 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Conjunctiva: RGD PMID:7750940 RGD:7394786 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar Annotator: match by OMIM:254210
ClinVar
OMIM
PMID:7616604, PMID:11172068, PMID:12756141, PMID:15381704, PMID:15701560, PMID:18414213, PMID:19520274, PMID:19900826, PMID:21786365, PMID:21948486, PMID:24033266, PMID:25741868, PMID:26080897, PMID:26467025, PMID:26789281, PMID:28492532, PMID:28497657, PMID:29189923, PMID:11172068 RGD:1600831 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
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 chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:18981160 RGD:7257572 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Trex1 three prime repair exonuclease 1 ISS MouseDO NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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 chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism RGD PMID:7914110 RGD:8548777 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism:promoter RGD PMID:7914110 RGD:8548777 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression: : RGD PMID:7738351 RGD:7421578 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 3:12,262,822...12,292,665
Ensembl chr 3:12,262,822...12,292,663
JBrowse link
G C2 complement C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3501473 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11359403 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:limb muscle: RGD PMID:15772970 RGD:8661727
G Cd36 CD36 molecule ISO mRNA:increased expression:skeletal muscle RGD PMID:17572512 RGD:6893508 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:expression:serum RGD PMID:22394569 RGD:9491763 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:8952317 RGD:8548628 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Ifng interferon gamma ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20601655 RGD:4889547 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il4 interleukin 4 ISO mRNA:increased expression:skeletal muscle RGD PMID:19953283 RGD:7794747 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:cds:p.G54D,G57E(human) RGD PMID:12485445 RGD:8693750 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA:increased expression:skeletal muscle RGD PMID:11157561 RGD:8547876 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pms1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:15856462 RGD:2324870 NCBI chr 9:53,120,656...53,206,520
Ensembl chr 9:53,120,656...53,206,516
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human) RGD PMID:22402141 RGD:8661693 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:17899683 RGD:5685006 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:muscle RGD PMID:19953283 RGD:7794747 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19035492 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:14730619 RGD:8548886 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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 2:241,273,763...241,545,527
Ensembl chr 2:241,273,763...241,545,250
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 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO RGD PMID:18432520 RGD:5135258 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:serum RGD PMID:9034992 RGD:5684371 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 ISO DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) RGD PMID:16832637 RGD:5684369 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:20338043 RGD:12792275 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism::HLA-DQA1*0501; RGD PMID:11014350 RGD:8547725 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Wrn WRN RecQ like helicase ISO RGD PMID:16906373 RGD:10042980 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
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 ClinVar Annotator: match by term: Digital arthropathy-brachydactyly, familial
ClinVar Annotator: match by OMIM:606835
OMIM
ClinVar
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21964574, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26467025, PMID:27330106, PMID:28492532, PMID:28898540 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:18050371 RGD:8547765 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:18050371 RGD:8547765 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:epidermis (human) RGD PMID:20493423 RGD:8698667 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Nat2 N-acetyltransferase 2 treatment ISO DNA:polymorphisms: : RGD PMID:9170150 RGD:8552671 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: :HLA-DQA1*0102 RGD PMID:7883595 RGD:8547567 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO ClinVar Annotator: match by term: Discoid lupus erythematosus ClinVar PMID:25741868 NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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 chr13:70,174,970...70,183,879
Ensembl chr13:70,174,936...70,183,879
JBrowse link
G C3 complement C3 ISO
IEP
RGD PMID:17962462, PMID:147324 RGD:7401263, RGD:11040804 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C6 complement C6 susceptibility IAGP RGD PMID:17034580 RGD:1600670 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11359850 RGD:8547800 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B treatment IMP RGD PMID:25355917 RGD:11041161 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit treatment ISO RGD PMID:10606626 RGD:704386 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:quadriceps (rat) RGD PMID:16365386 RGD:2315588 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP
IEP
RGD PMID:19232748, PMID:15843529 RGD:2311364, RGD:1598501 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 IEP RGD PMID:15843529 RGD:1598501 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Il15 interleukin 15 IEP protein:increased expression:skeletal muscle RGD PMID:11585642 RGD:1626617 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il23r interleukin 23 receptor IEP mRNA:increased expression:lymph node RGD PMID:21193288 RGD:5108250 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:18250419 RGD:2325986 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il4r interleukin 4 receptor IEP protein:increased expression:skeletal muscle RGD PMID:19395316 RGD:4889981 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Musk muscle associated receptor tyrosine kinase IDA RGD PMID:17081697 RGD:2317084 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Myog myogenin IEP RGD PMID:1312030 RGD:9686077 NCBI chr13:51,126,459...51,129,048
Ensembl chr13:51,126,459...51,129,048
JBrowse link
G Rapsn receptor-associated protein of the synapse IEP protein:decreased expression:neuromuscular junction RGD PMID:19344765 RGD:8549750 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
Familial Osteochondritis Dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO OMIM NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:decreased expression:plasma RGD PMID:19924498 RGD:14995946 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Comt catechol-O-methyltransferase severity ISO DNA:polymorphism:cds:p.V158M(human) RGD PMID:24762091 RGD:13450944 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO protein:increased expression:serum (human) RGD PMID:10341365 RGD:8549787 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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
ClinVar Annotator: match by OMIM:169600
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3978039, PMID:10615129, PMID:10767338, PMID:11450592, PMID:11874499, PMID:15545997, PMID:16621454, PMID:20338123, PMID:21883398, PMID:25741868, PMID:28492532 NCBI chr 8:113,953,959...114,039,965
Ensembl chr 8:113,955,647...114,013,623
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 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Il4 interleukin 4 no_association ISO DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: HAND OSTEOARTHRITIS ClinVar PMID:12736871 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
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 OMIM NCBI chr13:49,195,325...49,243,327
Ensembl chr13:49,195,325...49,243,316
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 8:112,838,574...112,884,062
Ensembl chr 8:112,834,707...112,884,077
JBrowse link
G Acrbp acrosin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
JBrowse link
G Adcy7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:19,702,307...19,762,973
Ensembl chr19:19,704,859...19,727,081
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:135,409,698...135,412,552
Ensembl chr 6:135,410,030...135,412,312
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Aqp9 aquaporin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:77,559,621...77,599,781
Ensembl chr 8:77,559,624...77,599,781
JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
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 7:104,670,076...104,951,090
Ensembl chr 7:104,669,672...104,801,045
JBrowse link
G Avl9 AVL9 cell migration associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:87,026,471...87,070,738
Ensembl chr 4:87,026,530...87,066,356
JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:164,039,731...164,055,561
Ensembl chr 3:164,039,731...164,095,878
JBrowse link
G Bend2 BEN domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:35,151,376...35,200,501 JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:37,812,831...37,815,088
Ensembl chr 7:37,812,831...37,815,088
JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:16,873,642...16,889,100
Ensembl chr11:16,873,646...16,889,201
JBrowse link
G C8b complement C8 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:7980680 NCBI chr 5:124,298,269...124,338,055
Ensembl chr 5:124,300,477...124,338,053
JBrowse link
G Cald1 caldesmon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:62,103,948...62,291,375
Ensembl chr 4:62,220,736...62,291,489
JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:3,373,971...3,434,027
Ensembl chr 3:3,373,971...3,434,027
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd83 CD83 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:24,416,651...24,435,790
Ensembl chr17:24,416,651...24,435,790
JBrowse link
G Cd8b CD8b molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:99,185,960...99,201,887
Ensembl chr 4:99,185,885...99,202,023
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 chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Cmtm2a CKLF-like MARVEL transmembrane domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:880,024...887,144
Ensembl chr19:880,024...887,144
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum RGD PMID:22885951 RGD:6906884 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Cttn cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:217,602,698...217,638,196
NCBI chr 1:215,255,385...215,290,882
Ensembl chr 1:217,602,698...217,638,152
Ensembl chr 1:217,602,698...217,638,152
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504, PMID:26387944 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:16,970,642...16,973,425
Ensembl chr10:16,970,626...16,973,418
JBrowse link
G Dusp2 dual specificity phosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:119,776,925...119,779,110
Ensembl chr 3:119,776,925...119,779,099
JBrowse link
G Dusp4 dual specificity phosphatase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:61,080,767...61,090,973
Ensembl chr16:61,078,175...61,091,169
JBrowse link
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Elf2 E74 like ETS transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:140,310,374...140,399,312
Ensembl chr 2:140,310,375...140,387,505
JBrowse link
G Etnk1 ethanolamine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:177,402,904...177,447,047
Ensembl chr 4:177,402,904...177,447,028
JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168
JBrowse link
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Faxdc2 fatty acid hydroxylase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:43,500,825...43,526,376
Ensembl chr10:43,502,931...43,512,287
JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:198,430,536...198,439,453
Ensembl chr 2:198,430,530...198,458,041
JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:166,140,025...166,395,915
Ensembl chr 1:166,125,474...166,395,915
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:80,214,691...80,221,417
Ensembl chr 1:80,214,494...80,221,710
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:25,598,936...25,616,995
Ensembl chr 6:25,598,936...25,616,995
JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:97,782,512...97,784,814
Ensembl chr 4:97,782,512...97,784,842
JBrowse link
G Gmpr guanosine monophosphate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:19,543,274...19,580,929
Ensembl chr17:19,543,275...19,580,929
JBrowse link
G Gng11 G protein subunit gamma 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:28,989,170...28,994,610
Ensembl chr 4:28,989,115...28,993,621
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:18328165 RGD:5490992 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
JBrowse link
G Herpud2 HERPUD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:26,266,571...26,311,528
Ensembl chr 8:26,266,760...26,311,350
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:16047841 RGD:8694357 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hist1h2af histone cluster 1 H2A family member F ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:43,627,237...43,627,629
Ensembl chr17:43,627,237...43,627,629
JBrowse link
G Hist1h2bl histone cluster 1 H2B family member l ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:44,748,445...44,748,910
Ensembl chr17:44,748,482...44,748,862
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 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:mononuclear cell RGD PMID:21859687 RGD:5147870 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 ISO
ISS
protein:increased expression:serum:
OMIM:604302
MouseDO PMID:9489833 RGD:7829742 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:90,397,960...90,416,550
Ensembl chr10:90,398,132...90,415,070
JBrowse link
G Itgb5 integrin subunit beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:70,056,500...70,172,164
Ensembl chr11:70,056,500...70,172,372
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:22,751,743...22,914,080
Ensembl chr20:22,751,743...22,882,672
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:35,545,185...35,588,517
Ensembl chr11:35,568,182...35,585,390
JBrowse link
G Klf4 Kruppel like factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:72,283,311...72,287,669
Ensembl chr 5:72,283,313...72,287,669
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: JUVENILE ARTHRITIS OMIM
ClinVar
PMID:25147203, PMID:25220867, PMID:27881174, PMID:29717096, PMID:30872671 NCBI chr15:59,199,537...59,217,200
Ensembl chr15:59,209,829...59,215,803
JBrowse link
G Lilra5 leukocyte immunoglobulin like receptor A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:73,655,767...73,682,232
Ensembl chr 1:73,656,028...73,682,247
JBrowse link
G LOC685203 hypothetical protein LOC685203 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:53,395,684...53,464,930
Ensembl chr 9:53,440,272...53,440,595
JBrowse link
G Lpp LIM domain containing preferred translocation partner in lipoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:79,192,603...79,827,858
Ensembl chr11:79,205,730...79,703,736
JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:16,410,083...16,721,232
Ensembl chr12:16,410,083...16,719,824
JBrowse link
G Maff MAF bZIP transcription factor F ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:120,580,743...120,592,095
Ensembl chr 7:120,580,743...120,592,095
JBrowse link
G Maml2 mastermind-like transcriptional coactivator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:11,929,238...12,253,991
Ensembl chr 8:11,931,767...12,251,099
JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mbl2 mannose binding lectin 2 ISO RGD PMID:18334024 RGD:12910845 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:69,549,937...69,571,736
Ensembl chr18:69,549,937...69,571,736
JBrowse link
G Mif macrophage migration inhibitory factor ISS OMIM:604302 MouseDO NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:227,574,789...227,606,958
Ensembl chr 1:227,592,635...227,607,042
Ensembl chr 1:227,592,635...227,607,042
JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:65,226,834...65,294,192
Ensembl chr  X:65,226,748...65,295,810
JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:98,820,799...98,960,878
Ensembl chr 7:98,820,812...98,960,837
JBrowse link
G Myzap myocardial zonula adherens protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:78,009,019...78,096,409
Ensembl chr 8:77,985,190...78,096,390
JBrowse link
G Ndel1 nudE neurodevelopment protein 1-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:55,398,919...55,456,654
Ensembl chr10:55,411,901...55,444,861
JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:43,111,258...43,128,391
Ensembl chr 3:43,111,240...43,119,159
JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:63,781,801...63,822,890
Ensembl chr 5:63,781,801...63,821,637
JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:163,239,853...163,261,937
Ensembl chr 4:163,239,849...163,261,958
JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:84,457,487...84,469,426
Ensembl chr14:84,465,515...84,470,409
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 7:124,224,210...124,317,407
Ensembl chr 7:124,223,633...124,317,379
JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1, choline, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:62,727,691...62,821,199
Ensembl chr  X:62,727,755...62,818,522
JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994
JBrowse link
G Pgm5 phosphoglucomutase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:242,582,591...242,765,837
Ensembl chr 1:242,582,642...242,765,807
JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
JBrowse link
G Plk2 polo-like kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:41,911,143...41,916,901
Ensembl chr 2:41,911,131...41,916,901
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp : cds : rs2476601 RGD PMID:15934099 RGD:6484550 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G R3hdm2 R3H domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:70,677,226...70,805,255
Ensembl chr 7:70,697,050...70,805,221
JBrowse link
G Rasgef1b RasGEF domain family, member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:11,499,692...12,028,513
Ensembl chr14:11,988,671...12,027,381
JBrowse link
G Rbm47 RNA binding motif protein 47 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:43,701,944...43,839,803
Ensembl chr14:43,810,119...43,837,662
JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:167,330,966...167,664,506
Ensembl chr 5:167,331,035...167,664,505
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:50,666,444...50,691,523
Ensembl chr 5:50,668,040...50,684,409
JBrowse link
G Rhobtb1 Rho-related BTB domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:20,638,579...20,715,437
Ensembl chr20:20,638,579...20,713,128
JBrowse link
G Rnf103 ring finger protein 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:99,398,479...99,415,193
Ensembl chr 4:99,398,494...99,421,164
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:19811310, PMID:10457895 RGD:5147815, RGD:5147863 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:10457895 RGD:5147863 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:19908388, PMID:10457895 RGD:5147587, RGD:5147863 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Selp selectin P severity ISO protein:increased expression:plasma RGD PMID:21124648 RGD:6219006 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
JBrowse link
G Sh2d2a SH2 domain containing 2A ISO RGD PMID:15129233 RGD:2298870 NCBI chr 2:187,218,851...187,225,000
Ensembl chr 2:187,218,851...187,225,002
JBrowse link
G Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:91,069,925...91,162,537
Ensembl chr 8:91,070,073...91,160,258
JBrowse link
G Sik1 salt-inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Sipa1l1 signal-induced proliferation-associated 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:106,052,212...106,163,249
Ensembl chr 6:106,039,991...106,163,302
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16597321, PMID:10857800 RGD:5684977 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
JBrowse link
G Slc22a16 solute carrier family 22 member 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:45,658,398...45,669,192 JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:SNPs: : RGD PMID:17393463 RGD:13208931 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Stab1 stabilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:7,220,434...7,250,934
Ensembl chr16:7,222,067...7,250,924
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Stim1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:276,686,911...276,730,517
Ensembl chr 1:276,659,542...276,730,514
Ensembl chr 1:276,659,542...276,730,514
JBrowse link
G Tfdp1 transcription factor Dp-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:81,088,642...81,127,244
Ensembl chr16:81,089,292...81,127,257
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:15209962 RGD:5685023 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:44,664,310...44,779,914
Ensembl chr18:44,716,226...44,779,914
JBrowse link
G Tnik TRAF2 and NCK interacting kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:113,984,599...114,391,805
Ensembl chr 2:113,984,646...114,384,894
JBrowse link
G Treml1 triggering receptor expressed on myeloid cells-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:14,597,172...14,603,622
Ensembl chr 9:14,597,172...14,599,594
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
JBrowse link
G Ube2e1 ubiquitin-conjugating enzyme E2E 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:8,124,869...8,178,252
Ensembl chr15:8,125,526...8,177,781
JBrowse link
G Ube3c ubiquitin protein ligase E3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:2,505,912...2,606,710
Ensembl chr 4:2,505,909...2,606,655
JBrowse link
G Uhrf1bp1l UHRF1 binding protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:30,408,519...30,455,783
Ensembl chr 7:30,408,519...30,455,783
JBrowse link
G Wasf3 WASP family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:10,297,896...10,391,014
Ensembl chr12:10,298,555...10,391,270
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Zfand3 zinc finger AN1-type containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:8,693,989...8,892,572
Ensembl chr20:8,696,436...8,892,569
JBrowse link
G Zfc3h1 zinc finger, C3H1-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:58,365,979...58,424,326
Ensembl chr 7:58,366,192...58,423,581
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 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Anxa5 annexin A5 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Ar androgen receptor ISO DNA:repeat:exon:c.172(CAG)8-34 (human) RGD PMID:16098017 RGD:10043199 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Aspn asporin severity ISO mRNA:increased expression:cartilage:
DNA:repeats:exon:
RGD PMID:15640800, PMID:15640800 RGD:9684965, RGD:9684965 NCBI chr17:14,655,958...14,681,355
Ensembl chr17:14,656,009...14,679,409
JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:serum RGD PMID:18795399 RGD:6482710 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO
IDA
RGD PMID:22294259, PMID:21387139 RGD:6483563, RGD:6483595 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:dorsal root ganglion: RGD PMID:23185004 RGD:8661785
G Cd36 CD36 molecule disease_progression ISO
IEP
RGD PMID:21765106, PMID:19342682 RGD:6893494, RGD:6893565 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Ctnnb1 catenin beta 1 IEP protein:increased expression:cartilage: RGD PMID:22702043 RGD:10395278 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 severity ISO mRNA,protein:increased expression:fat pad: RGD PMID:21765106 RGD:6893494 NCBI chr 1:164,113,459...164,143,818
Ensembl chr 1:164,113,459...164,143,818
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:20131282 RGD:6907382 NCBI chr 1:248,952,896...248,956,579
Ensembl chr 1:248,895,738...248,898,607
JBrowse link
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 IEP RGD PMID:25435813 RGD:13506963 NCBI chr 8:85,838,594...85,841,816
Ensembl chr 8:85,838,869...85,840,818
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:serum: RGD PMID:22275171 RGD:10401792 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
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 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:25422652 RGD:10400892 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F2 coagulation factor II ISO RGD PMID:21041276 RGD:5147774 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 treatment ISO RGD PMID:27159076 RGD:11568056 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased expression:synovial fluid RGD PMID:16289733 RGD:10401830 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
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 chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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 chr16:36,077,615...36,080,191
Ensembl chr16:36,077,617...36,080,191
Ensembl chr11:36,077,617...36,080,191
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 6:135,107,262...135,112,793
Ensembl chr 6:135,107,271...135,112,775
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:8948288 RGD:10045874 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il2 interleukin 2 severity ISO protein:increased expression:synovial fluid: RGD PMID:22035391 RGD:5687147 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 susceptibility IDA
ISO
DNA:repeat:intron: (rs8179190) (human) RGD PMID:18182309, PMID:24406619 RGD:2317291, RGD:10402787 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Kl Klotho susceptibility ISO DNA:SNPs:promoter,exon:395G>A,2998C>T(human) RGD PMID:18465812 RGD:10403041 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:23575542 RGD:10411887 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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 5:75,557,038...75,678,067
Ensembl chr 5:75,557,042...75,676,584
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:21,203,502...21,600,441
Ensembl chr 6:21,203,502...21,600,451
JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:synovial membrane RGD PMID:30106113 RGD:25824950 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment IEP RGD PMID:21167838 RGD:8549737 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IMP RGD PMID:22114772 RGD:8694098 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Penk proenkephalin treatment IEP RGD PMID:21928671 RGD:10003115 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G Ptges prostaglandin E synthase IEP RGD PMID:17530714 RGD:2300093 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Sbno1 strawberry notch homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr12:37,593,692...37,650,761
Ensembl chr12:37,593,874...37,649,036
JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:deletion:promoter:-716_-713del4A(human) RGD PMID:11558903 RGD:13208866 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
G Tgfa transforming growth factor alpha IEP protein:increased expression:cartilage RGD PMID:17968906 RGD:2317486 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr19:39,543,246...39,614,624
Ensembl chr19:39,543,242...39,614,625
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 chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:16289869 RGD:1626312 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
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 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:skin: RGD PMID:12925209 RGD:8661733
G Fas Fas cell surface death receptor ISO RGD PMID:17102953 RGD:12903974 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO RGD PMID:17102953 RGD:12903974 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-384T>G(human) RGD PMID:17444587 RGD:4142872 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:20808962 RGD:4892610 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:serum: RGD PMID:19886888 RGD:8551850 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:22461185 RGD:6483571 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression:skin: RGD PMID:15730388 RGD:13208597 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO RGD PMID:16112028 RGD:1578361 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15863969 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:14712301 RGD:8548627 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:7916356 RGD:8158116 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12920362 RGD:8549537 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:9804345 RGD:1582543 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:7510487 RGD:7394847 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843018 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:17957542 RGD:7207211 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G C3 complement C3 ISO protein:decreased expression:serum RGD PMID:21888025 RGD:7175544 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:18187931 RGD:7241814 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 disease_progression ISO RGD PMID:15153561 RGD:5688164 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:23799000, PMID:18566369, PMID:19265127 RGD:7248418, RGD:7248429, RGD:7248425 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO RGD PMID:10623824, PMID:3183062, PMID:21893562 RGD:7242736, RGD:7242763, RGD:7242755 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H ISO RGD PMID:22171659 RGD:5684551 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Clu clusterin ISO mRNA:increased expression: epithelial cell of renal tubule RGD PMID:9546356 RGD:8890679 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Crp C-reactive protein no_association ISO RGD PMID:18852001, PMID:20039408, PMID:15692982 RGD:6907400, RGD:6909146, RGD:6909145 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf1 colony stimulating factor 1 ISO RGD PMID:21885670, PMID:17659436 RGD:7257567, RGD:7257589 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO RGD PMID:15146424 RGD:7204726 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:21354048 RGD:5688301 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:missense mutation:cds:p.H131R (human)
ClinVar Annotator: match by term: Lupus nephritis, susceptibility to
ClinVar PMID:8636449, PMID:9843982, PMID:10675363, PMID:15367919, PMID:18347005, PMID:19915573, PMID:19965803, PMID:21109570, PMID:22992668, PMID:24033266, PMID:15004265 RGD:5147975 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:15681388 RGD:7240529 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum,urine
protein:increased processing:kidney
RGD PMID:22764573, PMID:29925830 RGD:6893369, RGD:14974252 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:25129462 RGD:9244623 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Itgam integrin subunit alpha M ISO RGD PMID:21719445 RGD:5147916 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Klkb1 kallikrein B1 susceptibility ISO DNA:SNPs:promoter: RGD PMID:19307730 RGD:7327150 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO DNA:polymorphism:exon: RGD PMID:24850777 RGD:12910847 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mir125a microRNA 125a IEP RNA:decreased expression:kidney RGD PMID:30972208 RGD:26884458 NCBI chr 1:59,704,827...59,704,911
Ensembl chr 1:59,704,827...59,704,911
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase susceptibility ISO DNA:polymorphism: :−463G > A (human) RGD PMID:17896805 RGD:7174701 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:17283580 RGD:7245502 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Muc20 mucin 20, cell surface associated ISO RGD PMID:14565953 RGD:7364790 NCBI chr11:71,222,602...71,236,223
Ensembl chr11:71,222,600...71,236,223
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:21509671, PMID:17880936 RGD:7174713, RGD:7174734 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO protein:increased expression:kidney RGD PMID:22279542 RGD:7175260 NCBI chr 1:222,451,674...222,459,952
Ensembl chr 1:222,451,674...222,459,952
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 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Sell selectin L ISO RGD PMID:20512127 RGD:7175284 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Serping1 serpin family G member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4014294 NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E treatment IDA mouse model RGD PMID:15494537 RGD:10760401 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:20980973 RGD:6893449 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat6 signal transducer and activator of transcription 6 disease_progression ISO RGD PMID:12874250 RGD:7244140 NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
JBrowse link
G Tlr7 toll-like receptor 7 ISO RGD PMID:19944565 RGD:7246905 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
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, PMID:20497632 RGD:7245987, RGD:7246911, RGD:7246897, RGD:7246896, RGD:7245989, RGD:7246884 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:glomerular mesangial cell RGD PMID:7750940 RGD:7394786 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO RGD PMID:19201910, PMID:10906156 RGD:7245569, RGD:7245572 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO RGD PMID:22846145, PMID:22674120 RGD:7245541, RGD:7245544 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:urine RGD PMID:22788914 RGD:7241032 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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 fragment of IgG receptor IIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism:cds:HLA-DRB1*04 (human) RGD PMID:12559632 RGD:5147801 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr 3:122,696,125...122,703,734
Ensembl chr 3:122,695,939...122,703,734
JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr20:7,409,401...7,427,581
Ensembl chr20:7,409,401...7,427,581
JBrowse link
G Tlr3 toll-like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms:cds:p.R16G,Q27E(human) RGD PMID:10606977 RGD:8548470 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Cfb complement factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:6605118 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:15843529 RGD:1598501 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15843529 RGD:1598501 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:15661863 RGD:5509039 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:peripheral blood, T lymphocyte (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15169653, PMID:23043710 RGD:8662430 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
JBrowse link
G Musk muscle associated receptor tyrosine kinase treatment
severity
ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)
CTD PMID:22981737, PMID:27119269, PMID:22218276, PMID:26025053 RGD:38599166, RGD:38599165 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4323972 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp: cds: 1858T RGD PMID:19693092 RGD:6484722 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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 chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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 chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Acan aggrecan treatment ISO
IEP
RGD PMID:22833446, PMID:21853458 RGD:11570535, RGD:11570544 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Aco1 aconitase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:56,425,076...56,481,218
Ensembl chr 5:56,425,024...56,481,218
JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Adam12 ADAM metallopeptidase domain 12 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 1:205,951,840...206,286,294
Ensembl chr 1:205,956,342...206,282,575
JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO RGD PMID:15818704 RGD:1559176 NCBI chr 2:188,661,831...188,672,337
Ensembl chr 2:188,661,699...188,672,247
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 chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
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 chr13:89,622,996...89,632,485
Ensembl chr13:89,622,632...89,634,419
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, PMID:11801682, PMID:18240210, PMID:23546441, PMID:22961118 RGD:10043101, RGD:10043110, RGD:2300093, RGD:10003165, RGD:10043107, RGD:10043106, RGD:10043105, RGD:10043103, RGD:10043102 NCBI chr11:25,411,174...25,456,639
Ensembl chr11:25,410,975...25,456,836
JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16948116, PMID:23894457 RGD:8695985 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Ak4 adenylate kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:120,250,318...120,309,153
Ensembl chr 5:120,250,616...120,305,897
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24728293 NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
JBrowse link
G Aspn asporin no_association
susceptibility
ISO DNA:repeats:exon:
CTD Direct Evidence: marker/mechanism
CTD
OMIM
PMID:16542493 RGD:9684966 NCBI chr17:14,655,958...14,681,355
Ensembl chr17:14,656,009...14,679,409
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
G Atp7a ATPase copper transporting alpha ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bad BCL2-associated agonist of cell death ISO RGD PMID:19217321 RGD:10053643 NCBI chr 1:222,198,516...222,207,459
Ensembl chr 1:222,198,534...222,207,453
JBrowse link
G Bag6 BAG cochaperone 6 susceptibility ISO DNA:SNP: :rs3117582(human) RGD PMID:25231575 RGD:14390133 NCBI chr20:5,124,512...5,138,084
Ensembl chr20:5,125,349...5,138,084
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 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:19217321, PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:cartilage RGD PMID:20187128, PMID:20187128 RGD:6483317, RGD:6483317 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bglap bone gamma-carboxyglutamate protein disease_progression ISO RGD PMID:20157712 RGD:6483599 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
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 chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29138829 RGD:13782343 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:29138829 RGD:13782343 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:16508959 RGD:10043354 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO protein:increased expression:synovial membrane: RGD PMID:19942450 RGD:10054497 NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
JBrowse link
G Cd36 CD36 molecule susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment IEP RGD PMID:24009074 RGD:10043190 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta susceptibility ISO RGD PMID:22095691 RGD:10401214 NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Cilp cartilage intermediate layer protein disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:70,760,922...70,775,891
Ensembl chr 8:70,760,922...70,775,891
JBrowse link
G Clec3b C-type lectin domain family 3, member B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:132,241,016...132,248,066
Ensembl chr 8:132,241,134...132,246,694
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166
JBrowse link
G Clic4 chloride intracellular channel 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:153,568,937...153,625,669
Ensembl chr 5:153,568,745...153,625,869
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789, PMID:18784066 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:SNP:intron:IVS1 RGD PMID:10743824 RGD:5688331 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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 PMID:9061443, PMID:16189708, PMID:16755660, PMID:19216861 RGD:8657384, RGD:8661226 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670472 NCBI chr16:20,798,437...20,807,070
Ensembl chr16:20,798,437...20,807,070
JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:215,541,570...215,553,446
Ensembl chr 1:215,541,542...215,553,451
JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:243,175,346...243,224,883
Ensembl chr 2:243,175,346...243,224,883
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Dpep1 dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr19:55,973,447...55,998,830
Ensembl chr19:55,982,740...55,998,208
JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:43,475,640...43,581,725
Ensembl chr15:43,477,629...43,542,939
JBrowse link
G Edil3 EGF like repeats and discoidin domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:17,616,116...18,128,514
Ensembl chr 2:17,616,401...18,128,512
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:10806043 RGD:1626498 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Erg ETS transcription factor ERG ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr11:35,645,317...35,749,637
Ensembl chr11:35,646,116...35,749,594
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 5:167,951,564...167,966,011
Ensembl chr 5:167,952,728...167,966,009
JBrowse link
G Esd esterase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:56,756,848...56,776,348
Ensembl chr15:56,756,661...56,776,348
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 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:SNP:intron: (rs1256031) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:60,028,786...60,086,352
Ensembl chr 8:60,028,789...60,086,403
JBrowse link
G Ezr ezrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:47,287,872...47,331,412
Ensembl chr 1:47,287,874...47,331,412
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:18,047,109...18,082,290
Ensembl chr10:18,047,109...18,063,391
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22393163 RGD:10402075 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA:increased expression:trabecular bone: RGD PMID:15781004 RGD:10402109 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:cartilage: RGD PMID:8646429 RGD:10402156 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Frzb frizzled-related protein susceptibility ISO ClinVar Annotator: match by OMIM:165720
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteoarthritis
ClinVar
CTD
OMIM
PMID:15210948, PMID:25741868 NCBI chr 3:67,635,604...67,668,772
Ensembl chr 3:67,635,607...67,668,772
JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:18830904, PMID:30664745 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link
G Gh1 growth hormone 1 ISO protein:increased expression:plasma RGD PMID:7152485 RGD:10003140 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor ISO DNA:deletion:exon: RGD PMID:23740230 RGD:10003113 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gls glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
JBrowse link
G Gstk1 glutathione S-transferase kappa 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:71,621,777...71,626,096
Ensembl chr 4:71,621,729...71,626,107
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO RGD PMID:22586168 RGD:10402054 NCBI chr 6:51,231,479...51,257,699
Ensembl chr 6:51,231,480...51,257,625
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:53,446,185...53,526,727
Ensembl chr 9:53,446,194...53,526,728
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 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22330250 RGD:10401949 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:59,164,601...59,183,899
Ensembl chr 8:59,164,572...59,183,908
JBrowse link
G Ifna1 interferon, alpha 1 treatment IEP RGD PMID:30456844 RGD:36174218 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cartilage RGD PMID:22527881 RGD:10402552 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:18775662 RGD:10402575 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:chonodrocyte: RGD PMID:9497936 RGD:10047053 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:21954917, PMID:22890185 RGD:7207218 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il4r interleukin 4 receptor ISO protein:increased expression:serum RGD PMID:16647277 RGD:10402785 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22035391 RGD:5687147 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Immt inner membrane mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:99,753,446...99,789,921
Ensembl chr 4:99,753,500...99,792,484
JBrowse link
G Ins2 insulin 2 ISO protein:increased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Isoc2b isochorismatase domain containing 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:72,524,569...72,545,331
Ensembl chr 1:72,524,569...72,545,329
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:18354251 RGD:6482239 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Lep leptin severity ISO protein:increased expression:tibia, cartilage, chondrocyte (human) RGD PMID:14613274 RGD:10053634 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
G Matn3 matrilin 3 susceptibility ISO ClinVar Annotator: match by term: OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12736871 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:synovial fluid (human) RGD PMID:15194590 RGD:7207131 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 8:5,768,808...5,777,741
Ensembl chr 8:5,768,811...5,778,702
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:65,226,834...65,294,192
Ensembl chr  X:65,226,748...65,295,810
JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:24651621, PMID:22084394 RGD:10003163, RGD:10003165 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Mvp major vault protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
JBrowse link
G Myh13 myosin heavy chain 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:53,921,077...53,927,553 JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D IEP protein:increased expression:spinal cord RGD PMID:20722027 RGD:10412653 NCBI chr 4:9,965,323...10,004,650
Ensembl chr 4:9,966,891...10,002,247
JBrowse link
G Ncor2 nuclear receptor co-repressor 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr12:36,871,917...37,033,701
Ensembl chr12:36,871,999...37,033,701
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:81,648,216...81,653,717
Ensembl chr10:81,648,216...81,653,717
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
JBrowse link
G Pdcd6ip programmed cell death 6 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:121,916,233...121,973,145
Ensembl chr 8:121,916,185...121,973,125
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP mRNA:increased expression:tibia (rat) RGD PMID:21864409 RGD:6771362 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Plcd1 phospholipase C, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
G Pls3 plastin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:119,030,311...119,124,268
Ensembl chr  X:119,030,419...119,124,250
JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:21378032 RGD:5508809 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pou3f3 POU class 3 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 9:49,479,148...49,482,246
Ensembl chr 9:49,479,023...49,482,252
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:60,717,386...60,736,629
Ensembl chr 1:60,717,386...60,736,609
JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:57,470,878...57,491,359
Ensembl chr 1:57,470,632...57,489,727
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:32004530, PMID:15334463 RGD:1625347 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:31,319,556...31,324,105
Ensembl chr12:31,320,624...31,323,810
JBrowse link
G Rcn3 reticulocalbin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:101,076,971...101,086,198
Ensembl chr 1:101,076,898...101,086,198
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16948116 NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
JBrowse link
G Scrn1 secernin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:84,678,978...84,740,701
Ensembl chr 4:84,678,975...84,740,909
JBrowse link
G Sdcbp syndecan binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:19,471,664...19,498,499
Ensembl chr 5:19,471,664...19,498,485
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sec23a Sec23 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:80,059,742...80,107,340
Ensembl chr 6:80,060,916...80,107,236
JBrowse link
G Serpina1 serpin family A member 1 IEP RGD PMID:20434574 RGD:2324964 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Sgcg sarcoglycan, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18973239 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217753, PMID:22772368 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528, PMID:18784066, PMID:22108257 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tent5a terminal nucleotidyltransferase 5A susceptibility ISO DNA:repeats: : RGD PMID:25231575 RGD:14390133 NCBI chr 8:92,935,474...92,942,267
Ensembl chr 8:92,937,739...92,942,076
JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:28,947,951...28,953,261
Ensembl chr 4:28,947,965...28,953,067
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b IEP RGD PMID:14872496 RGD:2290500 NCBI chr15:51,433,853...51,464,215 JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfsf10 TNF superfamily member 10 IEP RGD PMID:14872496 RGD:2290500 NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 5:79,553,935...79,569,974
Ensembl chr 5:79,553,742...79,570,073
JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:11,724,032...11,757,682
Ensembl chr10:11,724,032...11,757,681
JBrowse link
G Trim2 tripartite motif-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:183,145,096...183,223,819
Ensembl chr 2:183,145,089...183,213,228
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21964574 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:2,634,622...2,648,548
Ensembl chr15:2,634,624...2,648,551
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16876394, PMID:18784066 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:43,463,294...43,493,816
Ensembl chr 6:43,463,294...43,493,816
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 ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
ClinVar Annotator: match by term: NAMAQUALAND HIP DYSPLASIA
OMIM
ClinVar
PMID:1975693, PMID:1985108, PMID:7752132, PMID:7757086, PMID:8325895, PMID:8507190, PMID:9101290, PMID:9711874, PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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 chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19404941 RGD:9068434 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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