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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:arthropathy
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Accession:DOID:381 term browser browse the term
Definition:A bone disease that is located_in the joint. (DO)
Synonyms:exact_synonym: Arthroses;   Arthrosis;   Infectious arthropathy;   Joint Disease;   Joint Diseases;   arthropathies
 narrow_synonym: ankylosis of ankle and foot joint;   ankylosis of forearm joint;   ankylosis of hand joint;   ankylosis of joint of ankle and/or foot;   ankylosis of joint of forearm;   ankylosis of joint of hand;   ankylosis of joint of lower leg;   ankylosis of joint of multiple sites;   ankylosis of joint of pelvic region and thigh;   ankylosis of joint of shoulder region;   ankylosis of joint of upper arm;   ankylosis of lower leg joint;   ankylosis of multiple joints;   ankylosis of upper arm joint;   joint ankylosis of the ankle and foot;   joint ankylosis of the ankle and/or foot;   joint ankylosis of the forearm;   joint ankylosis of the hand;   joint ankylosis of the lower leg;   joint ankylosis of the pelvic region and thigh;   joint ankylosis of the shoulder region;   joint ankylosis of the upper arm;   vertebral joint disease
 primary_id: MESH:D007592
 alt_id: DOID:9003266
 xref: EFO:0009477;   EFO:1000999;   ICD10CM:M00-M02;   ICD10CM:M12.9;   ICD9CM:711;   ICD9CM:719.90;   NCI:C35760;   NCI:C78402
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO PPAC, OMIM:208230 RGD PMID:10471507 RGD:1599850 NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Tbx4 T-box transcription factor 4 susceptibility ISO Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X RGD PMID:15106123 RGD:1601422 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
adult-onset Still's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr 7:126,933,629...127,113,589
Ensembl chr 7:126,933,936...127,113,589 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
G Fcgr3a Fc gamma receptor 3A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)		 CTD
RGD		 PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdm5a lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G RT1-Ba RT1 class II, locus Ba severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-M5 RT1 class Ib, locus M5 no_association ISO DNA:polymorphisms:cds:HLA-B2705 (human) RGD PMID:21927904 RGD:10755579 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:82,120,558...82,135,749
Ensembl chr10:82,120,564...82,134,352 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9605588 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 susceptibility IAGP DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome OMIM
ClinVar		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
Arthralgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Arthralgia ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Arthralgias ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO RGD PMID:10894769 RGD:734569 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Cd40 CD40 molecule ISO associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) RGD PMID:23256180 RGD:7248721 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: therapeutic CTD PMID:12882836 NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542 		JBrowse link
G Cnr2 cannabinoid receptor 2 IMP RGD PMID:18075852 RGD:2316223 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17299831 PMID:24144632 PMID:26640276 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Copa COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human)
DNA:SNP:exon:F158V (rs396991)(human)		 RGD PMID:19026120 PMID:19005160 RGD:5508432, RGD:5508443 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) RGD PMID:21844150 RGD:5509918 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) RGD PMID:19035472 RGD:8549572 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO RGD PMID:32743529 RGD:40924631 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) RGD PMID:16461442 RGD:1601085 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) RGD PMID:10648455 RGD:7364930 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-M5 RT1 class Ib, locus M5 ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple (human) RGD PMID:10648455 RGD:7364930 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Sele selectin E ISO RGD PMID:16207337 RGD:1580041 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741 		JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO associated with Behcet Syndrome;DNA:haplotype: : RGD PMID:19395541 RGD:7777177 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564 		JBrowse link
arthrogryposis multiplex congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201 PMID:26752647 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31694722 NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28317099 PMID:31230720 NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh8 myosin heavy chain 8 ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:20839240 PMID:21911697 PMID:22526018 PMID:23394784 PMID:23826317 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita		 ClinVar
RGD		 PMID:25741868 PMID:12592607 RGD:1599481 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:12865991 RGD:1599490 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
arthrogryposis multiplex congenita-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect OMIM
ClinVar		 PMID:25741868 PMID:28318499 PMID:32860008 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
arthrogryposis multiplex congenita-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type ClinVar PMID:25741868 PMID:27782104 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type OMIM
ClinVar		 PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 More... NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
arthrogryposis multiplex congenita-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl2 SCY1 like pseudokinase 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:31960134 NCBI chr 7:24,064,404...24,117,338
Ensembl chr 7:24,064,404...24,117,305 		JBrowse link
arthrogryposis multiplex congenita-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 OMIM
ClinVar		 PMID:9288096 PMID:11523564 PMID:17503336 PMID:18519876 PMID:18827015 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
arthrogryposis multiplex congenita-6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neb nebulin ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 OMIM
ClinVar		 PMID:9536098 PMID:15221447 PMID:16199547 PMID:17576681 PMID:19232495 More... NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development OMIM
ClinVar		 PMID:25741868 PMID:29432562 PMID:30904718 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
Arthrogryposis, Impaired Intellectual Development, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome ClinVar PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 NCBI chr 2:204,705,053...204,760,966
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 More... NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319 		JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar		 PMID:8151641 PMID:11668108 PMID:15052268 PMID:16896922 PMID:17994566 More... NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM
ClinVar		 PMID:20190753 PMID:25741868 PMID:28492532 PMID:31479177 NCBI chr 6:106,888,284...106,913,139
Ensembl chr 6:106,888,284...106,913,117 		JBrowse link
autoimmune interstitial lung, joint, and kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr1 atypical chemokine receptor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,782,396...85,786,002
Ensembl chr13:85,782,398...85,783,983 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065 		JBrowse link
G Aim2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975 		JBrowse link
G Apcs amyloid P component, serum ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,373,338...85,374,134
Ensembl chr13:85,373,220...85,374,298 		JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G B4galt3 beta-1,4-galactosyltransferase 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448 		JBrowse link
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,786,482...85,817,412
Ensembl chr13:85,786,483...85,817,749 		JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339 		JBrowse link
G Cd244 CD244 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,018,887...84,036,612
Ensembl chr13:84,020,095...84,036,100 		JBrowse link
G Cd48 Cd48 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142 		JBrowse link
G Cd84 CD84 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,327,580...84,367,153
Ensembl chr13:84,327,553...84,362,076 		JBrowse link
G Cfap126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,526,657...83,542,552
Ensembl chr13:83,526,657...83,542,552 		JBrowse link
G Cfap45 cilia and flagella associated protein 45 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878 		JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27577878 More... NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874 		JBrowse link
G Crp C-reactive protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dedd death effector domain-containing ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,755,874...83,769,982
Ensembl chr13:83,756,108...83,769,332 		JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285 		JBrowse link
G Dusp23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,098,792...85,099,984
Ensembl chr13:85,097,899...85,100,093 		JBrowse link
G F11r F11 receptor ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402 		JBrowse link
G Fcer1a Fc epsilon receptor Ia ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351 		JBrowse link
G Fcer1g Fc epsilon receptor Ig ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,649,447...83,654,215
Ensembl chr13:83,649,449...83,671,443 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Fcrl6 Fc receptor-like 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,062,709...85,072,308
Ensembl chr13:85,066,694...85,072,600 		JBrowse link
G Fcrla Fc receptor-like A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762 		JBrowse link
G Fcrlb Fc receptor-like B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957 		JBrowse link
G Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,271,340...83,275,267 JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576 		JBrowse link
G Igsf9 immunoglobulin superfamily, member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,948,643...84,965,616
Ensembl chr13:84,948,619...84,965,607 		JBrowse link
G Itln1 intelectin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,932,234...83,958,243
Ensembl chr13:83,948,124...83,958,227 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928 		JBrowse link
G Klhdc9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,790,269...83,794,080
Ensembl chr13:83,790,269...83,793,354 		JBrowse link
G LOC100361087 hypothetical LOC100361087 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,533,538...82,538,676
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
G Ly9 lymphocyte antigen 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,081,283...84,100,757
Ensembl chr13:84,079,458...84,100,823 		JBrowse link
G Mnda myeloid cell nuclear differentiation antigen ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420 		JBrowse link
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709 		JBrowse link
G Nhlh1 nescient helix loop helix 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,517,347...84,522,548
Ensembl chr13:84,517,289...84,525,094 		JBrowse link
G Nit1 nitrilase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,769,888...83,773,324
Ensembl chr13:83,765,941...83,773,332 		JBrowse link
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,549,786...82,820,949
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906 		JBrowse link
G Olfml2b olfactomedin-like 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607 		JBrowse link
G Or10j2 olfactory receptor family 10 subfamily J member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,723,330...85,724,262
Ensembl chr13:85,719,234...85,724,767 		JBrowse link
G Or10j3 olfactory receptor family 10 subfamily J member 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,667,254...85,668,195
Ensembl chr13:85,662,666...85,669,540 		JBrowse link
G Or10j5 olfactory receptor family 10 subfamily J member 5 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,430,655...85,431,584
Ensembl chr13:85,424,254...85,432,107 		JBrowse link
G Or6k2 olfactory receptor family 6 subfamily K member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,186,442...86,190,391
Ensembl chr13:86,185,529...86,190,815 		JBrowse link
G Or6k4 olfactory receptor family 6 subfamily K member 14B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,164,244...86,165,191
Ensembl chr13:86,160,158...86,166,214 		JBrowse link
G Or6k6 olfactory receptor family 6 subfamily K member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,148,402...86,149,325
Ensembl chr13:86,147,303...86,152,153 		JBrowse link
G Or6n1 olfactory receptor family 6 subfamily N member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,106,912...86,107,850
Ensembl chr13:86,102,080...86,108,363 		JBrowse link
G Or6n2 olfactory receptor family 6 subfamily N member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,076,857...86,087,100 JBrowse link
G Pcp4l1 Purkinje cell protein 4-like 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,588,992...83,612,631
Ensembl chr13:83,588,992...83,609,966 		JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
G Pfdn2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,772,301...83,791,367
Ensembl chr13:83,753,877...83,790,504 		JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sh2d1b SH2 domain containing 1B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,485,076...82,519,401 JBrowse link
G Slamf1 signaling lymphocytic activation molecule family member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,270,316...84,305,497
Ensembl chr13:84,270,316...84,305,497 		JBrowse link
G Slamf6 SLAM family member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,384,561...84,405,300
Ensembl chr13:84,383,742...84,405,300 		JBrowse link
G Slamf7 SLAM family member 7 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,135,656...84,154,528
Ensembl chr13:84,136,899...84,154,105 		JBrowse link
G Slamf8 SLAM family member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,047,729...85,057,571
Ensembl chr13:85,047,727...85,057,211 		JBrowse link
G Slamf9 SLAM family member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748 		JBrowse link
G Spata46 spermatogenesis associated 46 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,541,183...82,544,808
Ensembl chr13:82,541,183...82,544,808 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Tagln2 transgelin 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972 		JBrowse link
G Tomm40l translocase of outer mitochondrial membrane 40 like ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,636,692...83,641,854
Ensembl chr13:83,638,195...83,641,654 		JBrowse link
G Tstd1 thiosulfate sulfurtransferase like domain containing 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,853,421...83,854,875
Ensembl chr13:83,822,035...83,854,885 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,342,946...82,377,558
Ensembl chr13:82,342,946...82,377,469 		JBrowse link
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,709,330...83,719,762
Ensembl chr13:83,709,330...83,716,076 		JBrowse link
G Uhmk1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,396,646...82,416,292
Ensembl chr13:82,401,187...82,416,292 		JBrowse link
G Usf1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,845,230...83,854,875
Ensembl chr13:83,822,035...83,854,885 		JBrowse link
G Usp21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,702,582...83,709,215
Ensembl chr13:83,702,631...83,708,717 		JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378 		JBrowse link
G Vsig8 V-set and immunoglobulin domain containing 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,023,177...85,031,364
Ensembl chr13:85,023,177...85,031,364 		JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis OMIM
ClinVar		 PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: Uromodulin-associated kidney disease ClinVar
OMIM
RGD		 PMID:7396593 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 More... RGD:737832 NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302 		JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 CTD
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital		 CTD
ClinVar		 PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital		 CTD
ClinVar		 PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
OMIM
RGD		 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 More... RGD:1600934 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
OMIM
RGD		 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 More... RGD:1600934 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 PMID:11992252 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C16h4orf47 similar to human chromosome 4 open reading frame 47 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type OMIM
ClinVar		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type		 ClinVar
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22715153 More... RGD:9588484 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder OMIM
ClinVar		 PMID:18834968 PMID:25741868 PMID:28492532 NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:50,282,434...50,324,010 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2 OMIM
ClinVar		 PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 More... NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome ClinVar PMID:25741868 NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome 1 OMIM
ClinVar		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2 OMIM
ClinVar		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:29397575 NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496 		JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2		 ClinVar
OMIM
RGD		 PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... RGD:1601070 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 OMIM
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
chondrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar
RGD		 PMID:12297987 RGD:734570 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
Chondrocalcinosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Chondrocalcinosis 2 OMIM
ClinVar		 PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 More... NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Chondrocalcinosis 2 ClinVar PMID:2712793 PMID:11326272 PMID:19449425 PMID:25741868 PMID:28492532 NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
chondrodysplasia with joint dislocations gPAPP type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type OMIM
ClinVar		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570 		JBrowse link
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease OMIM
ClinVar		 PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:27684565 More... NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis ClinVar
OMIM
RGD		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar		 PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 More... NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 1:205,567,046...205,583,001
Ensembl chr 1:205,567,220...205,582,356 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Drg1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:78,103,876...78,119,976
Ensembl chr14:78,103,876...78,119,953 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774 		JBrowse link
G Mybpc2 myosin binding protein C2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 1:94,994,104...95,017,650
Ensembl chr 1:94,994,104...95,017,584 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 NCBI chr 8:60,149,234...60,348,726
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Myom2 myomesin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:74,520,148...74,592,658
Ensembl chr16:74,520,157...74,592,772 		JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274 		JBrowse link
G Nr2c1 nuclear receptor subfamily 2, group C, member 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:28,715,347...28,768,624
Ensembl chr 7:28,715,562...28,767,160 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:155,421,066...155,531,884
Ensembl chr 5:155,422,134...155,531,825 		JBrowse link
G Prg4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 PMID:29498452 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) RGD PMID:21155763 RGD:11072411 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444 		JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr11:79,402,236...79,634,234
Ensembl chr11:79,402,239...79,634,133 		JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:28492532 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:28492532 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:28492532 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		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: Familial digital arthropathy-brachydactyly OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
distal arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Fbn2 fibrillin 2 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:29074562 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISS
ISO		 OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis		 MouseDO
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
Distal Arthrogryposis Type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 OMIM
ClinVar		 PMID:30777867 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccin calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,817,835...57,823,171
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,200,947
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,982,409...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:11738357 PMID:12592607 PMID:17194691 PMID:17339586 More... NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:32707087 NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16642020 PMID:18695058 PMID:25256237 PMID:25741868 PMID:30826400 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO DNA:missense mutation:exon:p.A234T (769C>T) (human)
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 ClinVar
RGD		 PMID:25741868 PMID:18695058 RGD:12792960 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B ClinVar PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 More... NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 OMIM
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 More... NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:25741868 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 2B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 OMIM
ClinVar		 PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 More... NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
distal arthrogryposis type 2B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) OMIM
ClinVar		 PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 ClinVar PMID:17339586 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 More... NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome OMIM
ClinVar		 PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
distal arthrogryposis type 5D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 5D OMIM
ClinVar		 PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 More... NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 More... NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)		 OMIM
ClinVar
RGD		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch OMIM
ClinVar		 PMID:25741868 PMID:27607563 PMID:27653382 PMID:27843126 PMID:27974811 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
Experimental Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP protein:increased expression:serum RGD PMID:6163339 RGD:10046032 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A IEP
ISO		 mRNA:altered expression:liver
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:intestinal mucosa (rat)		 CTD
RGD		 PMID:17827786 PMID:19152228 PMID:17827786 RGD:2315573, RGD:11040994 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 IEP mRNA:decreased expression:kidney RGD PMID:22974786 RGD:11038789 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 IEP mRNA:decreased expression:small intestine RGD PMID:19152228 RGD:2315573 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Acan aggrecan treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Ace angiotensin I converting enzyme IEP RGD PMID:20213806 RGD:2325221 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr16:45,755,246...45,821,541
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Acsl5 acyl-CoA synthetase long-chain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr 1:254,289,513...254,336,608
Ensembl chr 1:254,292,521...254,336,607 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP RGD PMID:23897050 RGD:13703039 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:23897050 RGD:13703039 NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23326410 PMID:21681567 PMID:19026984 RGD:5685385, RGD:5686814 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adk adenosine kinase IMP RGD PMID:11160636 RGD:6482663 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510 		JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:11123369 RGD:1598898 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment IDA RGD PMID:22391142 RGD:10041007 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19675173 RGD:5509599 NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874 		JBrowse link
G Anxa1 annexin A1 IMP
ISO		 RGD PMID:10403283 PMID:23267026 RGD:2306928, RGD:7421573 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Anxa2 annexin A2 ameliorates IMP RGD PMID:24819400 RGD:150519886 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16947396 RGD:2313925 NCBI chr10:86,272,757...86,280,702 JBrowse link
G Apoa4 apolipoprotein A4 IEP protein:decreased expression:blood serum (rat) RGD PMID:10892728 RGD:5685694 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Arrb1 arrestin, beta 1 IEP protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061 		JBrowse link
G Arrb2 arrestin, beta 2 IEP protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IMP RGD PMID:17408934 RGD:5144054 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:21199477 PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:21199477 PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP RGD PMID:15001555 RGD:1625760 NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21406003 RGD:6483549 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Btk Bruton tyrosine kinase treatment IMP RGD PMID:22228807 PMID:32083858 RGD:11040701, RGD:151665122 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C3 complement C3 treatment ISO
IDA		 RGD PMID:20051658 PMID:7347767 RGD:7411688, RGD:11041098 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5 complement C5 ISO
IMP		 RGD PMID:20975959 PMID:12355496 RGD:5130175, RGD:1600637 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Cabin1 calcineurin binding protein 1 ISO RGD PMID:22275266 RGD:10054391 NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cbl Cbl proto-oncogene treatment IDA RGD PMID:16984225 RGD:2306289 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cblb Cbl proto-oncogene B IMP RGD PMID:16984225 RGD:2306289 NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IMP
IDA
IEP		 mRNA, protein:increased expression:synovium RGD PMID:18292571 PMID:24583103 PMID:17052673 PMID:18726678 RGD:2307052, RGD:11526142, RGD:2307143, RGD:2307008 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP mRNA, protein:increased expression:synovium, monocytes RGD PMID:17052673 RGD:2307143 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IMP
IEP		 mRNA, protein:increased expression:synovium, monocytes RGD PMID:9637726 PMID:17052673 RGD:4889940, RGD:2307143 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 onset ISO RGD PMID:17178563 RGD:6483780 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccn1 cellular communication network factor 1 ameliorates IMP RGD PMID:27653023 RGD:150429754 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO
IEP		 RGD PMID:18608173 PMID:14674010 RGD:5688144, RGD:1582346 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP RGD PMID:16320322 RGD:4144893 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment IEP mRNA:increased expression:ankle (rat) RGD PMID:14674010 PMID:22289897 RGD:1582346, RGD:5687744 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd28 Cd28 molecule IEP RGD PMID:18601859 RGD:2307202 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd4 Cd4 molecule treatment ISO
IMP		 RGD PMID:15479897 PMID:12010568 RGD:10058957, RGD:10058960 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20435931 RGD:5490544 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment IDA
ISO
IEP		 protein:increased expression:plasma (rat) RGD PMID:27218142 PMID:7689748 PMID:22611405 RGD:11344958, RGD:11352696, RGD:11352298 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd44 CD44 molecule (Indian blood group) IEP protein:increased expression:joint, macrophage, lymphocyte RGD PMID:8639178 RGD:2289388 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21852528 RGD:6483461 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd59 CD59 molecule IDA RGD PMID:14519760 RGD:1600483 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12882836 NCBI chr 4:162,725,446...162,733,364
Ensembl chr 4:162,725,446...162,733,542 		JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:22004797 RGD:6902903 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cdc42 cell division cycle 42 ISO protein:increased activation:bone marrow, macrophage RGD PMID:21266780 RGD:5688271 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:10395320 RGD:8552686 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cfh complement factor H ISO RGD PMID:19828624 RGD:5684557 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16200597 PMID:21188452 PMID:23326410 PMID:24709313 PMID:25194622 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Cp ceruloplasmin IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19330884 PMID:19205849 RGD:2314686 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cpox coproporphyrinogen oxidase IEP protein:decreased activity:liver (rat) RGD PMID:9173682 RGD:1600958 NCBI chr11:41,936,585...41,946,568
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IMP RGD PMID:17550594 RGD:1626231 NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330884 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:dorsal root ganglion RGD PMID:32510872 RGD:127338469 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment IMP RGD PMID:18434589 RGD:151665814 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:12742377 RGD:11039465 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Csk C-terminal Src kinase IMP RGD PMID:10411542 RGD:5134371 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment IMP
ISO		 RGD PMID:22354915 PMID:7543497 RGD:7204500, RGD:7204519 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Ctsb cathepsin B IEP mRNA:increased expression:knee joint, synovium (rat) RGD PMID:17195213 RGD:2315521 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:synovium, bone marrow RGD PMID:15353610 RGD:1601025 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 2:183,089,192...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:11465708 RGD:4892002 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP protein:increased expression:spinal cord RGD PMID:17123734 PMID:11465708 RGD:4891969, RGD:4892002 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:19096963 RGD:4889415 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 severity IMP RGD PMID:10358204 RGD:5135272 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO RGD PMID:24819400 RGD:150519886 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) IMP RGD PMID:15182735 RGD:2316231 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974942 NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
IDA		 mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 PMID:23762129 RGD:7248592, RGD:7248592 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 treatment IEP
IDA		 mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 PMID:23762129 RGD:7248592, RGD:7248592 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Edn1 endothelin 1 ISO mRNA:increased expression:inguinal lymph node (mouse) RGD PMID:22249931 RGD:8661695 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:7589090 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Esr1 estrogen receptor 1 treatment ISO associated with Osteoporosis RGD PMID:20112355 RGD:10045851 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:16269464 RGD:5508854 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II ISO RGD PMID:21436072 RGD:5147764 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F2r coagulation factor II (thrombin) receptor severity ISO RGD PMID:19674841 RGD:7387269 NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:12511586 RGD:735010 NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226 		JBrowse link
G Faslg Fas ligand treatment IMP RGD PMID:22354915 RGD:7204500 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO
IEP		 protein:increased expression:dorsal root ganglion
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12875993 PMID:16670289 PMID:32510872 RGD:9685708, RGD:127338469 NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G Fcgr2a Fc gamma receptor 2A onset ISO RGD PMID:18354234 PMID:16623928 RGD:5508446, RGD:5508457 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO RGD PMID:23341540 RGD:11344930 NCBI chr13:83,191,253...83,207,776
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fgf8 fibroblast growth factor 8 IMP RGD PMID:18699993 RGD:2314157 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:19180491 RGD:6483591 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 IAGP RGD PMID:10857786 RGD:61066 NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Foxp3 forkhead box P3 treatment IEP mRNA,protein:decreased expression:lung RGD PMID:29264841 PMID:23643080 RGD:38549364, RGD:38599003 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gja1 gap junction protein, alpha 1 IMP RGD PMID:23165424 RGD:7207259 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gli1 GLI family zinc finger 1 treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:23911657 RGD:11051957 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 disease_progression
treatment		 IEP protein:increased expression:aorta (rat)
protein:altered expression:T cell (rat)		 RGD PMID:28653218 PMID:28349925 PMID:28631356 RGD:13513975, RGD:13513979, RGD:13513976 NCBI chr 1:201,581,480...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Grn granulin precursor ISO RGD PMID:21393509 RGD:5509782 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16713974 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Gusb glucuronidase, beta treatment IEP RGD PMID:827200 RGD:42724460 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 IEP mRNA,protein:altered expression:bone: RGD PMID:25264706 RGD:9686117 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137 		JBrowse link
G Hdac6 histone deacetylase 6 treatment ISO RGD PMID:23541634 RGD:9681550 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IDA RGD PMID:21679445 RGD:8693318 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:altered localization:cytoplasm, extracellular matrix RGD PMID:12384917 RGD:728698 NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17119970 RGD:5508468 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hp haptoglobin IEP mRNA, protein:increased expression:tendon, ankle
protein:increased expression:serum		 RGD PMID:12801280 PMID:15899029 RGD:1626375, RGD:1626370 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:15529360 PMID:10882416 RGD:1624244, RGD:12910542 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Ifng interferon gamma IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19203382 PMID:22450443 PMID:12412757 PMID:7774621 RGD:2311498, RGD:10755750 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:plasma RGD PMID:19246225 RGD:2306697 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP mRNA, protein:increased expression:kidney, serum RGD PMID:14642797 RGD:10402760 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO
IMP		 RGD PMID:21087862 PMID:19652024 RGD:7495772, RGD:7495778 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:16684367 RGD:12791276 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 treatment IEP
ISO
IDA		 CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum:		 CTD
RGD		 PMID:20974942 PMID:22450443 PMID:19193354 PMID:19169271 PMID:23140046 More... RGD:2311059, RGD:8662976, RGD:7193038, RGD:7364838, RGD:1626677 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 treatment ISO
IMP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10444273 PMID:17665443 PMID:11860705 RGD:4889497, RGD:8549606 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il15 interleukin 15 ISO RGD PMID:20188418 RGD:5000761 NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il17a interleukin 17A treatment IMP
ISO
IEP
IDA		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 CTD
RGD		 PMID:20974942 PMID:20925596 PMID:23377547 PMID:21194185 PMID:20925596 RGD:4781444, RGD:9130803, RGD:9068936, RGD:4781444 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 disease_progression IEP
IMP		 RGD PMID:19096963 PMID:15147345 RGD:4889415, RGD:4889503 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha IDA
IEP		 protein:increased expression:serum: RGD PMID:20379758 PMID:19169271 RGD:6907373, RGD:8662976 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta treatment IDA
IEP
ISO		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 CTD
RGD		 PMID:19330884 PMID:20131233 PMID:20974942 PMID:22450443 PMID:21557995 More... RGD:7175317, RGD:13792834, RGD:10755447, RGD:7193038 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO
IEP		 rat model treated with human protein
human gene in a rat model
mRNA:increased expression:popliteal lymph node (rat)
mouse model treated with human protein		 RGD PMID:15270736 PMID:12727108 PMID:10921508 PMID:22267332 PMID:23006786 RGD:1626677, RGD:8551745, RGD:8551741, RGD:8549801, RGD:6907376 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 treatment IEP
IDA		 protein:increased expression:serum: RGD PMID:19169271 PMID:2492102 RGD:8662976, RGD:10047055 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il20 interleukin 20 IMP RGD PMID:20722035 RGD:5147393 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:17928458 RGD:2325988 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Il4 interleukin 4 treatment IMP
ISO
IEP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10444273 PMID:16869003 PMID:23972727 PMID:23140046 RGD:2317300, RGD:10402790, RGD:7193038 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 treatment IEP
ISO
IDA
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20131233 PMID:20974942 PMID:22450443 PMID:24028507 PMID:8607900 More... RGD:10755447, RGD:11060267, RGD:11049553, RGD:11049551 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:20626857 RGD:5509945 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Itga4 integrin subunit alpha 4 treatment IMP RGD PMID:12969328 RGD:9698440 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
G Itgb2 integrin subunit beta 2 IMP RGD PMID:8881759 RGD:6482229 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Itgb3 integrin subunit beta 3 IMP protein:increased expression:endothelial cell RGD PMID:16869003 RGD:2317300 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:19265135 RGD:6482234 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Jak1 Janus kinase 1 treatment IMP RGD PMID:29452839 RGD:19165139 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO
IDA		 RGD PMID:22339472 PMID:23711144 PMID:22800927 RGD:10403066, RGD:10403081, RGD:10403074 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Jak3 Janus kinase 3 treatment IMP
IEP		 RGD PMID:25762693 PMID:18234077 PMID:21434883 RGD:11533938, RGD:11533944, RGD:11533942 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:25131209 RGD:150521609 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Klkb1 kallikrein B1 IMP
IEP		 RGD PMID:22739815 PMID:9783057 RGD:7297047, RGD:7327138 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
G Kng2 kininogen 2 IEP peptidoglycan-polysaccharide-induced arthritis in Lewis rats RGD PMID:9214434 PMID:1996642 RGD:1600547, RGD:11059895 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Kyat1 kynurenine aminotransferase 1 IMP RGD PMID:16984225 RGD:2306289 NCBI chr 3:13,459,598...13,493,308
Ensembl chr 3:13,459,591...13,493,355 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15142272 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lgals3 galectin 3 IEP RGD PMID:16507131 RGD:1625684 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO RGD PMID:16331767 RGD:10412332 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:10765927 RGD:1642012 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Mir146a microRNA 146a ISO mRNA:increased expression:joints (mouse) RGD PMID:22660635 RGD:155663483 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610 		JBrowse link
G Mir152 microRNA 152 ISO
IEP		 CTD Direct Evidence: marker/mechanism
miRNA:decreased exression:synovial membrane of synovial joint		 CTD
RGD		 PMID:25194984 PMID:25194984 RGD:21066343 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020 		JBrowse link
G Mir23b microRNA 23b treatment ISO mRNA:decreased expression:joint (mouse) RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763 		JBrowse link
G Mir26a microRNA 26a EXP CTD Direct Evidence: therapeutic CTD PMID:24423102 NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378 		JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA
IEP		 RGD PMID:21288455 PMID:24011916 PMID:21108488 RGD:7207362, RGD:8549748, RGD:7207365 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP
IDA		 RGD PMID:24244039 PMID:11435459 RGD:8694124, RGD:1582329 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:ankle joint 		CTD
RGD		 PMID:20974942 PMID:20703013 PMID:24244039 PMID:24244039 PMID:24011916 More... RGD:7241231, RGD:8694124, RGD:8694124, RGD:8549748, RGD:8693318 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:cartilage, serum, synovial fluid RGD PMID:17463159 RGD:1642035 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 susceptibility ISO DNA:transversion: :m.7778G>T (mouse) RGD PMID:19759059 RGD:5490297 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IEP RGD PMID:22391142 RGD:10041007 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO RGD PMID:20131263 RGD:8552884 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Myod1 myogenic differentiation 1 treatment IEP RGD PMID:23781298 RGD:9686078 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Myog myogenin treatment IDA RGD PMID:23781298 RGD:9686078 NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 severity IAGP DNA:missense mutations:cds:p.M106V, p.M153T (rat) RGD PMID:12461526 RGD:628543 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:21424514 PMID:20131263 RGD:5508728, RGD:8552884 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Nos2 nitric oxide synthase 2 IMP
ISO		 protein:increased expression:ankle joint (mouse) RGD PMID:12826065 PMID:21880869 RGD:1358527, RGD:5509060 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29337196 RGD:13504725 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Npsr1 neuropeptide S receptor 1 treatment IMP RGD PMID:24884567 RGD:9831205 NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 severity ISO RGD PMID:16905546 RGD:11073695 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:21859686 RGD:6480864 NCBI chr 1:95,041,967...95,047,377
Ensembl chr 1:95,041,967...95,047,377 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO RGD PMID:21859686 RGD:6480864 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Nras NRAS proto-oncogene, GTPase IEP RGD PMID:18706093 RGD:2300006 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nts neurotensin IEP RGD PMID:8518953 RGD:9743903 NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423 		JBrowse link
G Orm1 orosomucoid 1 IEP protein:increased expression:liver RGD PMID:16166348 RGD:2316639 NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154 		JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:22028806 RGD:6480518 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IDA RGD PMID:17138865 RGD:6483527 NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 severity ISO RGD PMID:16356201 RGD:5684009 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:knee joint, blood vessels (mouse) RGD PMID:22548760 PMID:14613294 PMID:21982514 RGD:6484738, RGD:6771222, RGD:6771177 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO RGD PMID:18412166 RGD:6482696 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20374644 PMID:18412166 RGD:6482684, RGD:6482696 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:20973954 RGD:6483801 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Ptch1 patched 1 treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment
disease_progression		 ISO
IEP
IMP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:tarsal joint, synovium (rat)		 CTD
RGD		 PMID:18287210 PMID:20423341 PMID:11207665 PMID:18287210 RGD:10003041, RGD:10043377, RGD:10003052 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Ptges prostaglandin E synthase IEP mRNA, protein:increased expression:paw RGD PMID:12707354 RGD:2300108 NCBI chr 3:14,177,892...14,189,236 JBrowse link
G Ptges3 prostaglandin E synthase 3 IEP mRNA:increased expression:paw (rat) RGD PMID:12707354 RGD:2300108 NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP mRNA, protein:increased expression:synovium RGD PMID:22289897 RGD:5687744 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
IEP
ISO		 mRNA, protein:increased expression:synovium
protein:increased expression:autopod joint		 RGD PMID:18758904 PMID:22289897 PMID:21765105 RGD:2300221, RGD:5687744, RGD:5508310 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 IEP protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) RGD PMID:24998229 RGD:11532752 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20974942 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:21665435 PMID:19950279 RGD:5147558, RGD:5147586 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258