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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:Joint Diseases
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Accession:DOID:9003266 term browser browse the term
Definition:Diseases involving the JOINTS.
Synonyms:exact_synonym: Arthroses;   Arthrosis;   Joint Disease
 primary_id: MESH:D007592
 alt_id: RDO:0001004
For additional species annotation, visit the Alliance of Genome Resources.



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Joint Diseases 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 IIIa 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 ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 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 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
ClinVar Annotator: match by OMIM:208050
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: Joint pains ClinVar 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: JOINT PAINS 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 Fcgr3a Fc gamma receptor IIIa 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 due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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 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 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 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 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 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 PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177 PMID:21291453 PMID:22950825 PMID:23806086 PMID:25741868 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 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 distal
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 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:10051637 PMID:12207937 PMID:15221447 PMID:19232495 PMID:19346529 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 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, NEUROGENIC, WITH MYELIN DEFECT
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, neurogenic, with myelin defect
ClinVar
OMIM
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
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, 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, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM ClinVar
OMIM
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
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5
ClinVar
OMIM
PMID:18827015 PMID:25741868 PMID:28516161 PMID:29053766 PMID:30244176 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:29432562 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
ClinVar Annotator: match by OMIM:615553
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 2:204,620,103...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 ClinVar
OMIM
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 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 ClinVar
OMIM
PMID:20190753 PMID:25741868 PMID:28492532 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 Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease 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
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:25741868 PMID:27965258 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: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
ClinVar Annotator: match by term: Familial juvenile gout
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by OMIM:162000
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 CTD 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 ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:7695699 PMID:8218237 PMID:9536098 PMID:11707460 PMID:15689448 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 ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 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 ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
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: Collagen VI-related myopathy 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:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 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:1788629 PMID:4271325 PMID:4793163 PMID:7695699 PMID:7785673 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 ClinVar
OMIM
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 RGD1564308 similar to LOC495042 protein ISO ClinVar Annotator: match by term: Hip dysplasia, beukes type ClinVar PMID:2389793 PMID:21228277 PMID:26428751 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: OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP
ClinVar Annotator: match by term: Hip dysplasia, beukes type
OMIM
ClinVar
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28892125 NCBI chr16:46,272,016...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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoidosis, early-onset
ClinVar Annotator: match by OMIM:186580
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:11087742 PMID:11385576 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 Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 More... NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar
OMIM
RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23236640 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 OMIM:612394
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 AND joint hypermobility
ClinVar 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 OMIM:229200
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
ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.
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 ISS
ISO
OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck Syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255
JBrowse link
Bruck Syndrome 1 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 null
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar Annotator: match by OMIM:259450
ClinVar
OMIM
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
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609220
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
ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:208250
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 Annotator: match by OMIM:610756
ClinVar
OMIM
RGD
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 More... RGD:1601070 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 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 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
ISS
OMIM:118600 | OMIM:118610 | OMIM:600668
ClinVar Annotator: match by term: Chondrocalcinosis
MouseDO
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
ClinVar Annotator: match by term: CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE 2
ClinVar Annotator: match by term: Calcium gout
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:118600
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 Annotator: match by term: Calcium gout
ClinVar PMID:2712793 PMID:11326272 PMID:19449425 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
ClinVar Annotator: match by OMIM:614078
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: Lethal arthrogryposis with anterior horn cell disease
ClinVar Annotator: match by OMIM:611890
OMIM
ClinVar
PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 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: Arthrogryposis, distal, type 9
ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by OMIM:121050
ClinVar Annotator: match by null
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 CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 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 ClinVar
OMIM
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 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 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 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: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 Spast spastin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More... NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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: Distal arthrogryposis type 8
ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
ClinVar
OMIM
PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 PMID:29314551 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 SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B
OMIM
ClinVar
PMID:25741870 PMID:29805041 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
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 Dysplasia
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 Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar
PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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 ClinVar
OMIM
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: Digital arthropathy-brachydactyly, familial
ClinVar Annotator: match by OMIM:606835
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 Mylpf myosin light chain, phosphorylatable, fast skeletal muscle 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 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: Distal arthrogryposis
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
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 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 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis type 1A ClinVar 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: Distal arthrogryposis type 1A ClinVar PMID:28492532
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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 Olr834 olfactory receptor 834 ISO ClinVar Annotator: match by term: Distal arthrogryposis 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 Olr840 olfactory receptor 840 ISO ClinVar Annotator: match by term: Distal arthrogryposis 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 Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis 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: Distal arthrogryposis type 1A OMIM
ClinVar
PMID:7977374 PMID:11738357 PMID:12592607 PMID:17194691 PMID:17846275 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: Distal arthrogryposis type 1B
ClinVar Annotator: match by OMIM:614335
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 Mylpf myosin light chain, phosphorylatable, fast skeletal muscle 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 OMIM 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: Distal arthrogryposis type 2B
ClinVar
RGD
PMID:16642020 PMID:18414213 PMID:19142688 PMID:25741868 PMID:28492532 More... 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
ClinVar Annotator: match by term: Distal arthrogryposis type 2B
CTD
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 2B
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B
ClinVar PMID:10525521 PMID:12865991 PMID:18414213 PMID:19142688 PMID:21402185 More... 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 2B 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 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnni2 troponin I2, fast skeletal type ISO OMIM NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2b2
ClinVar
OMIM
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 OMIM
ClinVar
PMID:16642020 PMID:18695058 PMID:25741868 PMID:28492532 PMID:29625835 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 Annotator: match by term: Arthrogryposis, distal, type 2B4
ClinVar PMID:17339586 PMID:23678273 PMID:27726070 PMID:30285720 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: Camptodactyly, cleft palate, and clubfoot
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
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 with oculomotor limitation and electroretinal abnormalities
ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Oculomelic amyoplasia
ClinVar Annotator: match by OMIM:108145
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
ClinVar Annotator: match by term: Arthrogryposis, distal, type 5d
ClinVar Annotator: match by OMIM:615065
OMIM
ClinVar
PMID:18414213 PMID:23236030 PMID:23261301 PMID:25099528 PMID:25741868 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 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: Hecht syndrome
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
ClinVar Annotator: match by OMIM:158300
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 ClinVar
OMIM
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
ClinVar Annotator: match by OMIM:615539
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 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 RGD:11040701 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:18726678 PMID:17052673 RGD:2307052, RGD:11526142, RGD:2307008, RGD:2307143 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 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 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 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 Ia 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 IIa 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 IIb 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 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 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 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 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
JBrowse link
G S100a8 S100 calcium binding protein A8 IEP RGD PMID:8343166 RGD:633930 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
JBrowse link
G S100a9 S100 calcium binding protein A9 IEP RGD PMID:8343166 RGD:633930 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
JBrowse link
G Serpinc1 serpin family C member 1 IEP protein:decreased expression:plasma RGD PMID:22781611 RGD:11035273 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
JBrowse link
G Shh sonic hedgehog signaling molecule treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Slc11a1 solute carrier family 11 member 1 severity ISO RGD PMID:17122779 RGD:5684943 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IEP protein:decreased expression:articular cartilage of joint RGD PMID:10449524 PMID:9744360 RGD:634208, RGD:9999431 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
JBrowse link
G Smo smoothened, frizzled class receptor treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Socs3 suppressor of cytokine signaling 3 IEP mRNA:increased expression:mononuclear cell RGD PMID:16507131 RGD:1625684 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
JBrowse link
G Spn sialophorin IMP associated with Staphylococcal Infections RGD PMID:7927732 RGD:2303983 NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
JBrowse link
G Stat1 signal transducer and activator of transcription 1 IDA
ISO
protein:increased tyrosine phosphorylation:macrophage, synovial cell
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15188379 PMID:14674010 RGD:1582346 NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15188379 PMID:21937456 PMID:23711144 RGD:10403081 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9259450 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP RGD PMID:29763498 RGD:15036801 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP protein:increased expression:synovium RGD PMID:9010265 RGD:1601623 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:16879225 RGD:5685015 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IMP RGD PMID:12483743 RGD:2290463 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
JBrowse link
G Tjp1 tight junction protein 1 IEP RGD PMID:18848892 RGD:2325138 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
JBrowse link
G Tlr2 toll-like receptor 2 IEP
ISO
RGD PMID:21725847 PMID:20131263 RGD:7241099, RGD:8552884 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 IEP
IMP
mRNA, protein:increased expression:spleen (rat) RGD PMID:20500834 PMID:20500834 RGD:5128706, RGD:5128706 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tnf tumor necrosis factor treatment IDA
IEP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD
RGD
PMID:7589090 PMID:9598899 PMID:19203382 PMID:19330884 PMID:19765281 More... RGD:7245941, RGD:13792834, RGD:10755447, RGD:10450611, RGD:8662976, RGD:8661761, RGD:7193038 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment IEP
ISO
mRNA:decreased expression:bone
Sinomenine CHEBI:9163
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:23333834 PMID:16696922 PMID:24066131 RGD:1624171, RGD:42721982 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment IDA
IEP
ISO
RGD PMID:23052485 PMID:21690068 PMID:20370892 RGD:7245941, RGD:8661761, RGD:8661729 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO
IEP
IDA
human protein in rat model RGD PMID:21463515 PMID:21690068 PMID:23052485 RGD:5131255, RGD:8661761, RGD:7245941 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Trpv2 transient receptor potential cation channel, subfamily V, member 2 treatment ISO RGD PMID:25869297 RGD:9999444 NCBI chr10:47,265,524...47,294,263
Ensembl chr10:47,272,931...47,294,260
JBrowse link
G Txndc5 thioredoxin domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chr17:26,289,880...26,318,025
Ensembl chr17:26,289,880...26,318,025
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9598899 PMID:26221077 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vim vimentin IDA RGD PMID:7516431 RGD:6480480 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vip vasoactive intestinal peptide ISO
IDA
RGD PMID:21998117 PMID:19055696 RGD:5685376, RGD:5685612 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link
G Xdh xanthine dehydrogenase IEP protein:increased expression:brain, mitochondrion RGD PMID:25870945 RGD:13208957 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
G Xylt1 xylosyltransferase 1 IEP mRNA:decreased expression:articular cartilage RGD PMID:19001053 RGD:2313142 NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
JBrowse link
Familial Osteochondritis Dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO OMIM NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555
JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar
OMIM
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence 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
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by OMIM:208150
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:25658027 PMID:25735680 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: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:71,333,005...72,252,772 JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890
JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2
OMIM
ClinVar
PMID:14504330 PMID:18179903 PMID:18252226 PMID:25741868 PMID:26467025 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3
OMIM
ClinVar
PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4
OMIM
ClinVar
PMID:25741868 PMID:30543681 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Frank Ter Haar syndrome
ClinVar Annotator: match by OMIM:249420
OMIM
ClinVar
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
JBrowse link
Freeman-Sheldon syndrome 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 OMIM:193700
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16642020 PMID:18414213 PMID:18695058 PMID:19142688 PMID:20924721 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
gout term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor ISO DNA:SNP: :rs10821905 (human) RGD PMI