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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 chr20:44,237,491...44,255,064
Ensembl chr20:44,237,491...44,255,064
JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
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 chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22138694, PMID:23308121 RGD:9684849 NCBI chr 7:137,142,063...137,335,208
Ensembl chr 7:137,142,170...137,335,208
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr17:14,655,958...14,681,355
Ensembl chr17:14,656,009...14,679,409
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:22422197, PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 9:46,840,646...46,881,241
Ensembl chr 9:46,840,992...46,881,264
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
CTD PMID:17952073 PMID:20062062, PMID:19522770, PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kdm5a lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469, PMID:21743469 RGD:6483530 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G RT1-Ba RT1 class II, locus Ba severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G RT1-M5 RT1 class Ib, locus M5 no_association ISO DNA:polymorphisms:cds:HLA-B2705 (human) RGD PMID:21927904 RGD:10755579 NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:85,071,058...85,085,596
Ensembl chr10:85,071,064...85,084,850
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
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 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
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:12801113 PMID:14569121 PMID:16550171 PMID:17163528 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23142374 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25373504 PMID:25741868 PMID:25944730 PMID:26376865 PMID:28492532 PMID:28726533 PMID:29907982 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
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 chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Joint pains ClinVar PMID:28492532 PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: JOINT PAINS ClinVar PMID:28492532 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
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 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Cd40 CD40 molecule ISO associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) RGD PMID:23256180 RGD:7248721 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: therapeutic CTD PMID:12882836 NCBI chr 4:163,041,147...163,049,065
Ensembl chr 4:163,041,141...163,049,084
JBrowse link
G Cnr2 cannabinoid receptor 2 IMP RGD PMID:18075852 RGD:2316223 NCBI chr 5:154,242,010...154,268,126
Ensembl chr 5:154,260,062...154,268,126
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 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Copa COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr13:90,467,285...90,508,894
Ensembl chr13:90,467,265...90,508,932
JBrowse link
G Fcgr3a Fc fragment of IgG 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 chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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 chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) RGD PMID:19035472 RGD:8549572 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
JBrowse link
G Irf5 interferon regulatory factor 5 ISO RGD PMID:32743529 RGD:40924631 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
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 chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) RGD PMID:10648455 RGD:7364930
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 chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
JBrowse link
G Sele selectin E ISO RGD PMID:16207337 RGD:1580041 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO associated with Behcet Syndrome;DNA:haplotype: : RGD PMID:19395541 RGD:7777177 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:85,380,088...85,382,565
Ensembl chr 1:85,380,088...85,382,569
JBrowse link
Arthrogryposis 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 1:8,593,342...8,751,540
Ensembl chr 1:8,593,075...8,751,198
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chr 9:94,302,218...94,308,591 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 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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:25741868 PMID:26392352 PMID:26794302 PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:28492532 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
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 PMID:25741868, PMID:12592607 RGD:1599481 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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 PMID:25741868 PMID:28492532, PMID:12865991 RGD:1599490 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
Arthrogryposis Multiplex Congenita 3, Myogenic Type 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, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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 PMID:27782104 PMID:28492532 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
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
OMIM
PMID:18827015 PMID:25741868 PMID:28516161 PMID:29053766 PMID:30244176 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
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
OMIM
PMID:29432562 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
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:16199547 PMID:24031089 PMID:25741868 PMID:28328131 PMID:28492532 PMID:28777481 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
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:26633546 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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 PMID:18853461 PMID:19274792 PMID:21851503 PMID:22753090 PMID:24782640 PMID:24917129 PMID:25741868 PMID:26505894 PMID:28492532 PMID:31479177 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
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 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
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:25741868 PMID:25894502 PMID:28492532 PMID:29137621 NCBI chr13:90,467,285...90,508,894
Ensembl chr13:90,467,265...90,508,932
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 chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by OMIM:162000
ClinVar
OMIM
PMID:12205338 PMID:12471200 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15589826 PMID:16135773 PMID:16883323 PMID:20172860 PMID:22117067 PMID:22693617 PMID:24670410 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:30376835, PMID:12471200 RGD:737832 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
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 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
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:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
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:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27708273 PMID:27854218 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
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 chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
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:28492532 NCBI chr 9:97,355,881...97,367,455
Ensembl chr 9:97,355,924...97,367,445
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
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
PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 PMID:9536098 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16130093 PMID:16141002 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301468 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:21943391 PMID:22075033 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23661642 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25535305 PMID:25635128 PMID:25741868 PMID:25749816 PMID:25978941 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28771251 PMID:28877744 PMID:28984114 PMID:29406609 PMID:29417091 PMID:29419890 PMID:30564623 PMID:30706156, PMID:8782832 RGD:1600934 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
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 Annotator: match by term: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
ClinVar
OMIM
PMID:1788629 PMID:4271325 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:9536098 PMID:11865138 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:21520333 PMID:22075033 PMID:23040494 PMID:23138527 PMID:23170014 PMID:23326386 PMID:23757202 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29419890 PMID:30564623 PMID:32860008, PMID:8782832 RGD:1600934 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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:15563506 PMID:15689448 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:19564581 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:23572247 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24332716 PMID:24907562 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:31044083 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 9:97,772,224...97,782,055
Ensembl chr 9:97,772,184...97,782,067
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
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 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1564308 similar to LOC495042 protein ISO ClinVar Annotator: match by term: Hip dysplasia, beukes type ClinVar PMID:2389793 PMID:21228277 PMID:26428751 NCBI chr16:49,485,022...49,509,756
Ensembl chr16:49,485,256...49,509,767
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP
ClinVar Annotator: match by term: Hip dysplasia, beukes type
OMIM
ClinVar
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28892125 NCBI chr16:49,465,958...49,484,975
Ensembl chr16:49,465,968...49,484,985
JBrowse link
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
PMID:7825454 PMID:9124059 PMID:11087742 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:14508222 PMID:14522785 PMID:14765395 PMID:15024686 PMID:15044951 PMID:15086578 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15554080 PMID:15571588 PMID:15712650 PMID:15770725 PMID:15812565 PMID:15967635 PMID:15998797 PMID:16278823 PMID:16485124 PMID:16804397 PMID:17157607 PMID:17207093 PMID:17393391 PMID:17941079 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18718560 PMID:18955195 PMID:19116920 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19713276 PMID:20032092 PMID:20039400 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20565245 PMID:20959815 PMID:21274544 PMID:21335489 PMID:21548950 PMID:21830272 PMID:21914217 PMID:21983784 PMID:22319155 PMID:22470564 PMID:22509093 PMID:22684479 PMID:22926499 PMID:22942351 PMID:23102769 PMID:23334666 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24391456 PMID:24583628 PMID:24595243 PMID:24713464 PMID:24803813 PMID:24876985 PMID:24960071 PMID:25093298 PMID:25136265 PMID:25416713 PMID:25429073 PMID:25687216 PMID:25741868 PMID:25829188 PMID:26070941 PMID:26164256 PMID:26316104 PMID:26500656 PMID:26606664 PMID:27306066 PMID:27339507 PMID:28492532 PMID:28639104 PMID:28814775 PMID:29248579 PMID:29503906 PMID:29697845 PMID:30166421, PMID:19479837, PMID:15812565, PMID:19116920, PMID:11528384 RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
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
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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 chr12:22,716,421...22,726,982
Ensembl chr12:22,716,423...22,726,982
JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
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 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by OMIM:229200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 NCBI chr19:54,843,864...55,083,935 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 PMID:28492532 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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 chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
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 PMID:20839288 PMID:21567934 PMID:22949511 PMID:23712425 PMID:25741868 NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
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 PMID:25741868 PMID:28492532 PMID:29178448 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
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 chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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 chr13:67,611,685...67,672,833
Ensembl chr13:67,611,708...67,672,827
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
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19934020 PMID:20944642 PMID:22826098 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
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
PMID:12297987 RGD:734570 NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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: 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 PMID:12297989 PMID:13130483 PMID:19449425 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008 NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
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 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
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 chr17:90,191,119...90,218,013
Ensembl chr17:90,188,043...90,218,013
Ensembl chr 5:90,188,043...90,218,013
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 PMID:25741868 PMID:27684565 PMID:28492532 PMID:28657126 PMID:28884921 PMID:29899397 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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: Congenital contractural arachnodactyly
ClinVar Annotator: match by OMIM:121050
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9737771 PMID:10612827 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:27196565 PMID:28492532 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31316167, PMID:11754102 RGD:1300364 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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 PMID:27681385 PMID:28454995 PMID:30167850 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Drg1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:83,460,540...83,476,568
Ensembl chr14:83,460,540...83,476,568
JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:16,821,393...16,912,050
Ensembl chr10:16,821,880...16,910,641
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:2,020,110...2,032,169
Ensembl chr14:2,018,500...2,032,593
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:46,955,460...46,969,468
Ensembl chr10:46,955,487...46,969,406
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:13,114,557...13,119,274
Ensembl chr  X:13,114,569...13,116,743
JBrowse link
G Mybpc2 myosin binding protein C2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 1:100,506,704...100,530,201
Ensembl chr 1:100,506,704...100,530,183
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 3:151,105,038...151,150,621
Ensembl chr 3:151,126,591...151,150,344
JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 8:64,573,248...64,777,607
Ensembl chr 8:64,573,358...64,777,543
JBrowse link
G Myom2 myomesin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:79,587,136...79,672,871
Ensembl chr16:79,587,640...79,671,719
JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:154,109,293...154,159,943
Ensembl chr 5:154,112,076...154,159,601
JBrowse link
G Nr2c1 nuclear receptor subfamily 2, group C, member 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:35,069,807...35,122,810
Ensembl chr 7:35,069,814...35,122,796
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:161,769,587...161,879,150
Ensembl chr 5:161,770,653...161,879,133
JBrowse link
G Prg4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr16:23,212,165...23,789,414
Ensembl chr16:23,447,366...23,781,604
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 PMID:29498452 NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
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 chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 PMID:20718791 PMID:20932283 PMID:22960362 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:84,168,494...84,254,679
Ensembl chr 1:84,168,495...84,254,645
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:26,867,638...26,875,384
Ensembl chr 6:26,866,737...26,875,376
JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr11:83,104,912...83,323,606
Ensembl chr11:83,105,064...83,300,409
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 PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B OMIM
ClinVar
PMID:29805041 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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 chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31988067 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:16571645 PMID:16759312 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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:22711505 PMID:23982343 PMID:24581741 PMID:28462984 PMID:28492532 PMID:30554721 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
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 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21964574 PMID:22702953 PMID:24575025 PMID:24789864 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
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 chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Mylpf myosin light chain, phosphorylatable, fast skeletal muscle ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO
ISS
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
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
MouseDO
PMID:12592607 PMID:17101001 PMID:25741868 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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 PMID:18414213 PMID:18420702 PMID:18422639 PMID:19047562 PMID:22084935 PMID:22832343 PMID:22980765 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26752647 PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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 PMID:25741868 PMID:26287277 PMID:28492532 NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
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 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
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 chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 PMID:16642020 PMID:18414213 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:29805041, PMID:18695058 RGD:12792960 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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:23850728 PMID:25741868 PMID:28492532 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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 PMID:25337069 PMID:25741868 PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar PMID:25741868 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO OMIM NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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
OMIM
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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 PMID:29805041 PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 ClinVar PMID:17339586 PMID:23678273 PMID:27726070 PMID:30285720 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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 PMID:30285720 PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:31680123 PMID:32860008 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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:23236030 PMID:23261301 PMID:25099528 PMID:25741868 PMID:26752647 NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome
ClinVar Annotator: match by term: Hecht syndrome
ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28492532 PMID:29926239 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532, PMID:17041932 RGD:12914760 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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 PMID:28492532 PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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:28492532 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
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 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
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 PMID:17827786, PMID:19152228, PMID:17827786 RGD:2315573, RGD:11040994 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 IEP mRNA:decreased expression:kidney RGD PMID:22974786 RGD:11038789 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 IEP mRNA:decreased expression:small intestine RGD PMID:19152228 RGD:2315573 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Acan aggrecan treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Ace angiotensin I converting enzyme IEP RGD PMID:20213806 RGD:2325221 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr16:48,937,456...49,003,898
Ensembl chr16:48,937,456...49,003,246
JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr  X:113,596,247...113,660,024
Ensembl chr  X:113,596,239...113,659,944
JBrowse link
G Acsl5 acyl-CoA synthetase long-chain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr 1:276,240,703...276,290,012
Ensembl chr 1:276,240,703...276,290,008
JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP RGD PMID:23897050 RGD:13703039 NCBI chr 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:23897050 RGD:13703039 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:23326410, PMID:21681567, PMID:19026984 RGD:5685385, RGD:5686814 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adk adenosine kinase IMP RGD PMID:11160636 RGD:6482663 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:11123369 RGD:1598898 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment IDA RGD PMID:22391142 RGD:10041007 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19675173 RGD:5509599 NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
JBrowse link
G Anxa1 annexin A1 IMP
ISO
RGD PMID:10403283, PMID:23267026 RGD:2306928, RGD:7421573 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16947396 RGD:2313925 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apoa4 apolipoprotein A4 IEP protein:decreased expression:blood serum (rat) RGD PMID:10892728 RGD:5685694 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Arrb1 arrestin, beta 1 IEP protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr 1:164,502,099...164,573,947
Ensembl chr 1:164,502,389...164,593,139
JBrowse link
G Arrb2 arrestin, beta 2 IEP protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IMP RGD PMID:17408934 RGD:5144054 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:21199477, PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:21199477, PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP RGD PMID:15001555 RGD:1625760 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21406003 RGD:6483549 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Btk Bruton tyrosine kinase treatment IMP RGD PMID:22228807 RGD:11040701 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
JBrowse link
G C3 complement C3 treatment ISO
IDA
RGD PMID:20051658, PMID:7347767 RGD:7411688, RGD:11041098 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 ISO
IMP
RGD PMID:20975959, PMID:12355496 RGD:5130175, RGD:1600637 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Cabin1 calcineurin binding protein 1 ISO RGD PMID:22275266 RGD:10054391 NCBI chr20:13,836,032...13,963,003
Ensembl chr20:13,836,030...13,963,003
JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cbl Cbl proto-oncogene treatment IDA RGD PMID:16984225 RGD:2306289 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cblb Cbl proto-oncogene B IMP RGD PMID:16984225 RGD:2306289 NCBI chr11:51,037,383...51,202,761
Ensembl chr11:51,037,393...51,202,820
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP mRNA, protein:increased expression:synovium, monocytes RGD PMID:17052673 RGD:2307143 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 onset ISO RGD PMID:17178563 RGD:6483780 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO
IEP
RGD PMID:18608173, PMID:14674010 RGD:5688144, RGD:1582346 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP RGD PMID:16320322 RGD:4144893
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd28 Cd28 molecule IEP RGD PMID:18601859 RGD:2307202 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd4 Cd4 molecule treatment ISO
IMP
RGD PMID:15479897, PMID:12010568 RGD:10058957, RGD:10058960 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20435931 RGD:5490544 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cd40lg CD40 ligand treatment IDA
ISO
IEP
protein:increased expression:plasma (rat) RGD PMID:27218142, PMID:7689748, PMID:22611405 RGD:11344958, RGD:11352696, RGD:11352298 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd44 CD44 molecule (Indian blood group) IEP protein:increased expression:joint, macrophage, lymphocyte RGD PMID:8639178 RGD:2289388 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21852528 RGD:6483461 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cd59 CD59 molecule IDA RGD PMID:14519760 RGD:1600483 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12882836 NCBI chr 4:163,041,147...163,049,065
Ensembl chr 4:163,041,141...163,049,084
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:22004797 RGD:6902903 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Cdc42 cell division cycle 42 ISO protein:increased activation:bone marrow, macrophage RGD PMID:21266780 RGD:5688271 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:10395320 RGD:8552686 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cfh complement factor H ISO RGD PMID:19828624 RGD:5684557 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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 PMID:25481498 PMID:26070417 PMID:29908986 PMID:29935983 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Cp ceruloplasmin IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19330884, PMID:19205849 RGD:2314686 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Cpox coproporphyrinogen oxidase IEP protein:decreased activity:liver (rat) RGD PMID:9173682 RGD:1600958 NCBI chr11:44,039,665...44,049,648
Ensembl chr11:44,039,669...44,049,648
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IMP RGD PMID:17550594 RGD:1626231 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330884 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:12742377 RGD:11039465 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Csk C-terminal Src kinase IMP RGD PMID:10411542 RGD:5134371 NCBI chr 8:62,405,714...62,424,707
Ensembl chr 8:62,405,715...62,424,303
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment IMP
ISO
RGD PMID:22354915, PMID:7543497 RGD:7204500, RGD:7204519 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Ctsb cathepsin B IEP mRNA:increased expression:knee joint, synovium (rat) RGD PMID:17195213 RGD:2315521 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:synovium, bone marrow RGD PMID:15353610 RGD:1601025 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:11465708 RGD:4892002 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:19096963 RGD:4889415 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 severity IMP RGD PMID:10358204 RGD:5135272 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) IMP RGD PMID:15182735 RGD:2316231 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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 chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
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 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Edn1 endothelin 1 ISO mRNA:increased expression:inguinal lymph node (mouse) RGD PMID:22249931 RGD:8661695 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:7589090 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Esr1 estrogen receptor 1 treatment ISO associated with Osteoporosis RGD PMID:20112355 RGD:10045851 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:16269464 RGD:5508854 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G F2 coagulation factor II ISO RGD PMID:21436072 RGD:5147764 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F2r coagulation factor II (thrombin) receptor severity ISO RGD PMID:19674841 RGD:7387269 NCBI chr 2:26,118,760...26,135,340
Ensembl chr 2:26,118,760...26,135,340
JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:12511586 RGD:735010 NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
JBrowse link
G Faslg Fas ligand treatment IMP RGD PMID:22354915 RGD:7204500 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:12875993, PMID:16670289 RGD:9685708 NCBI chr 2:198,430,536...198,439,453
Ensembl chr 2:198,430,530...198,458,041
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa onset ISO RGD PMID:18354234, PMID:16623928 RGD:5508446, RGD:5508457 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:23341540 RGD:11344930 NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
JBrowse link
G Fgf8 fibroblast growth factor 8 IMP RGD PMID:18699993 RGD:2314157 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:19180491 RGD:6483591 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 IAGP RGD PMID:10857786 RGD:61066 NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
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:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Gja1 gap junction protein, alpha 1 IMP RGD PMID:23165424 RGD:7207259 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gli1 GLI family zinc finger 1 treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 7:70,620,794...70,633,171
Ensembl chr 7:70,620,766...70,630,338
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:23911657 RGD:11051957 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
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 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
JBrowse link
G Grn granulin precursor ISO RGD PMID:21393509 RGD:5509782 NCBI chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16713974 NCBI chr11:65,060,884...65,208,842
Ensembl chr11:65,066,235...65,209,268
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 IEP mRNA,protein:altered expression:bone: RGD PMID:25264706 RGD:9686117 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Hdac6 histone deacetylase 6 treatment ISO RGD PMID:23541634 RGD:9681550 NCBI chr  X:15,295,372...15,316,673
Ensembl chr  X:15,295,473...15,316,671
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IDA RGD PMID:21679445 RGD:8693318 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:altered localization:cytoplasm, extracellular matrix RGD PMID:12384917 RGD:728698 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17119970 RGD:5508468 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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 chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:15529360, PMID:10882416 RGD:1624244, RGD:12910542 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Ifng interferon gamma IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:19203382 PMID:22450443, PMID:12412757, PMID:7774621 RGD:2311498, RGD:10755750 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:plasma RGD PMID:19246225 RGD:2306697 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP mRNA, protein:increased expression:kidney, serum RGD PMID:14642797 RGD:10402760 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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 chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:16684367 RGD:12791276 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 treatment IEP
ISO
IDA
CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum:
CTD PMID:20974942 PMID:22450443, PMID:19193354, PMID:19169271, PMID:23140046, PMID:22052031, PMID:15270736 RGD:2311059, RGD:8662976, RGD:7193038, RGD:7364838, RGD:1626677 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il13 interleukin 13 treatment ISO
IMP
CTD Direct Evidence: therapeutic CTD PMID:10444273, PMID:17665443, PMID:11860705 RGD:4889497, RGD:8549606 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il15 interleukin 15 ISO RGD PMID:20188418 RGD:5000761 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il17a interleukin 17A treatment IMP
ISO
IEP
IDA
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)
CTD PMID:20974942, PMID:20925596, PMID:23377547, PMID:21194185, PMID:20925596 RGD:4781444, RGD:9130803, RGD:9068936, RGD:4781444 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 disease_progression IEP
IMP
RGD PMID:19096963, PMID:15147345 RGD:4889415, RGD:4889503 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha IDA
IEP
protein:increased expression:serum: RGD PMID:20379758, PMID:19169271 RGD:6907373, RGD:8662976 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta treatment IDA
IEP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)
CTD PMID:19330884 PMID:20131233 PMID:20974942 PMID:22450443, PMID:21557995, PMID:29408684, PMID:24028507, PMID:23140046 RGD:7175317, RGD:13792834, RGD:10755447, RGD:7193038 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il2 interleukin 2 treatment IEP
IDA
protein:increased expression:serum: RGD PMID:19169271, PMID:2492102 RGD:8662976, RGD:10047055 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il20 interleukin 20 IMP RGD PMID:20722035 RGD:5147393 NCBI chr13:47,644,071...47,651,487
Ensembl chr13:47,644,071...47,647,715
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:17928458 RGD:2325988 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Il4 interleukin 4 treatment IMP
ISO
IEP
CTD Direct Evidence: therapeutic CTD PMID:10444273, PMID:16869003, PMID:23972727, PMID:23140046 RGD:2317300, RGD:10402790, RGD:7193038 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 treatment IEP
ISO
IDA
IMP
CTD Direct Evidence: marker/mechanism CTD PMID:20131233 PMID:20974942 PMID:22450443, PMID:24028507, PMID:8607900, PMID:10381487, PMID:23503893 RGD:10755447, RGD:11060267, RGD:11049553, RGD:11049551 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:20626857 RGD:5509945 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Itga4 integrin subunit alpha 4 treatment IMP RGD PMID:12969328 RGD:9698440 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Itgb2 integrin subunit beta 2 IMP RGD PMID:8881759 RGD:6482229 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Itgb3 integrin subunit beta 3 IMP protein:increased expression:endothelial cell RGD PMID:16869003 RGD:2317300 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:19265135 RGD:6482234 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Jak1 Janus kinase 1 treatment IMP RGD PMID:29452839 RGD:19165139 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Jak3 Janus kinase 3 treatment IMP
IEP
RGD PMID:25762693, PMID:18234077, PMID:21434883 RGD:11533938, RGD:11533944, RGD:11533942 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Klkb1 kallikrein B1 IMP
IEP
RGD PMID:22739815, PMID:9783057 RGD:7297047, RGD:7327138 NCBI chr16:50,151,127...50,175,407
Ensembl chr16:50,152,008...50,175,458
JBrowse link
G Kng2 kininogen 2 IEP peptidoglycan-polysaccharide-induced arthritis in Lewis rats RGD PMID:9214434, PMID:1996642 RGD:1600547, RGD:11059895 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Kyat1 kynurenine aminotransferase 1 IMP RGD PMID:16984225 RGD:2306289 NCBI chr 3:8,752,289...8,785,617
Ensembl chr 3:8,752,625...8,766,433
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15142272 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lgals3 galectin 3 IEP RGD PMID:16507131 RGD:1625684 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO RGD PMID:16331767 RGD:10412332 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:10765927 RGD:1642012 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Mir152 microRNA 152 ISO
IEP
CTD Direct Evidence: marker/mechanism
miRNA:decreased exression:synovial membrane of synovial joint
CTD PMID:25194984, PMID:25194984 RGD:21066343 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mir26a microRNA 26a EXP CTD Direct Evidence: therapeutic CTD PMID:24423102 NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA
IEP
RGD PMID:21288455, PMID:24011916, PMID:21108488 RGD:7207362, RGD:8549748, RGD:7207365 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP
IDA
RGD PMID:24244039, PMID:11435459 RGD:8694124, RGD:1582329 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:ankle joint
CTD PMID:20974942, PMID:20703013, PMID:24244039, PMID:24244039, PMID:24011916, PMID:21679445 RGD:7241231, RGD:8694124, RGD:8694124, RGD:8549748, RGD:8693318 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:cartilage, serum, synovial fluid RGD PMID:17463159 RGD:1642035 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO RGD PMID:20131263 RGD:8552884 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Myod1 myogenic differentiation 1 treatment IEP RGD PMID:23781298 RGD:9686078 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Myog myogenin treatment IDA RGD PMID:23781298 RGD:9686078 NCBI chr13:51,126,459...51,129,048
Ensembl chr13:51,126,459...51,129,048
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 chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:21424514, PMID:20131263 RGD:5508728, RGD:8552884 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29337196 RGD:13504725 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npsr1 neuropeptide S receptor 1 treatment IMP RGD PMID:24884567 RGD:9831205 NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 severity ISO RGD PMID:16905546 RGD:11073695 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:21859686 RGD:6480864 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942
JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO RGD PMID:21859686 RGD:6480864 NCBI chr 3:80,004,130...80,014,197
Ensembl chr 3:80,004,130...80,012,750
JBrowse link
G Nras NRAS proto-oncogene, GTPase IEP RGD PMID:18706093 RGD:2300006 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Nts neurotensin IEP RGD PMID:8518953 RGD:9743903 NCBI chr 7:44,111,594...44,120,998
Ensembl chr 7:44,111,151...44,121,130
JBrowse link
G Orm1 orosomucoid 1 IEP protein:increased expression:liver RGD PMID:16166348 RGD:2316639 NCBI chr 5:79,179,668...79,182,820
Ensembl chr 5:79,179,417...79,182,820
JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:22028806 RGD:6480518 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IDA RGD PMID:17138865 RGD:6483527 NCBI chr 9:111,028,543...111,177,588
Ensembl chr 9:111,028,575...111,177,602
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 severity ISO RGD PMID:16356201 RGD:5684009 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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 chr10:94,850,971...94,913,202 JBrowse link
G Pgf placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO RGD PMID:18412166 RGD:6482696 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
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 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:20973954 RGD:6483801 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ptch1 patched 1 treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 PMID:18287210, PMID:20423341, PMID:11207665, PMID:18287210 RGD:10003041, RGD:10043377, RGD:10003052 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Ptges prostaglandin E synthase IEP mRNA, protein:increased expression:paw RGD PMID:12707354 RGD:2300108 NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
JBrowse link
G Ptges3 prostaglandin E synthase 3 IEP mRNA:increased expression:paw (rat) RGD PMID:12707354 RGD:2300108 NCBI chr 7:2,479,267...2,497,024
Ensembl chr 7:2,479,311...2,497,013
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP mRNA, protein:increased expression:synovium RGD PMID:22289897 RGD:5687744 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20974942 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:21665435, PMID:19950279 RGD:5147558, RGD:5147586 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G S100a8 S100 calcium binding protein A8 IEP RGD PMID:8343166 RGD:633930 NCBI chr 2:190,073,239...190,074,333
Ensembl chr 2:190,073,815...190,074,354
JBrowse link
G S100a9 S100 calcium binding protein A9 IEP RGD PMID:8343166 RGD:633930 NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276
JBrowse link
G Serpinc1 serpin family C member 1 IEP protein:decreased expression:plasma RGD PMID:22781611 RGD:11035273 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr17:47,383,983...47,394,065
Ensembl chr17:47,297,489...47,394,328
JBrowse link
G Shh sonic hedgehog signaling molecule treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Slc11a1 solute carrier family 11 member 1 severity ISO RGD PMID:17122779 RGD:5684943 NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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 3:160,799,979...160,802,228
Ensembl chr 3:160,799,981...160,802,433
JBrowse link
G Smo smoothened, frizzled class receptor treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Socs3 suppressor of cytokine signaling 3 IEP mRNA:increased expression:mononuclear cell RGD PMID:16507131 RGD:1625684 NCBI chr10:106,973,863...106,976,969
Ensembl chr10:106,975,178...106,976,040
JBrowse link
G Spn sialophorin IMP associated with Staphylococcal Infections RGD PMID:7927732 RGD:2303983 NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
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 PMID:15188379, PMID:14674010 RGD:1582346 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:15188379 PMID:21937456, PMID:23711144 RGD:10403081 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9259450 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP RGD PMID:29763498 RGD:15036801 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP protein:increased expression:synovium RGD PMID:9010265 RGD:1601623 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:16879225 RGD:5685015 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IMP RGD PMID:12483743 RGD:2290463 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Tjp1 tight junction protein 1 IEP RGD PMID:18848892 RGD:2325138 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469
JBrowse link
G Tlr2 toll-like receptor 2 IEP
ISO
RGD PMID:21725847, PMID:20131263 RGD:7241099, RGD:8552884 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tnf tumor necrosis factor treatment IDA
IEP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD PMID:7589090 PMID:9598899 PMID:19203382 PMID:19330884 PMID:19765281 PMID:20131233 PMID:20974942 PMID:21452922 PMID:22450443, PMID:23052485, PMID:29408684, PMID:24028507, PMID:24394943, PMID:19169271, PMID:21690068, PMID:23140046 RGD:7245941, RGD:13792834, RGD:10755447, RGD:10450611, RGD:8662976, RGD:8661761, RGD:7193038 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B IEP
ISO
mRNA:decreased expression:bone
CTD Direct Evidence: therapeutic
CTD PMID:23333834, PMID:16696922 RGD:1624171 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment IDA
IEP
ISO
RGD PMID:23052485, PMID:21690068, PMID:20370892 RGD:7245941, RGD:8661761, RGD:8661729 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO
IEP
IDA
human protein in rat model RGD PMID:21463515, PMID:21690068, PMID:23052485 RGD:5131255, RGD:8661761, RGD:7245941 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Trpv2 transient receptor potential cation channel, subfamily V, member 2 treatment ISO RGD PMID:25869297 RGD:9999444 NCBI chr10:48,903,540...48,925,036
Ensembl chr10:48,903,540...48,925,030
JBrowse link
G Txndc5 thioredoxin domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chr17:26,925,828...26,953,981
Ensembl chr17:26,925,828...26,953,970
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9598899 PMID:26221077 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vim vimentin IDA RGD PMID:7516431 RGD:6480480 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
JBrowse link
G Vip vasoactive intestinal peptide ISO
IDA
RGD PMID:21998117, PMID:19055696 RGD:5685376, RGD:5685612 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
G Xdh xanthine dehydrogenase IEP protein:increased expression:brain, mitochondrion RGD PMID:25870945 RGD:13208957 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
G Xylt1 xylosyltransferase 1 IEP mRNA:decreased expression:articular cartilage RGD PMID:19001053 RGD:2313142 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Familial Osteochondritis Dissecans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO OMIM NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
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 chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Adssl1 adenylosuccinate synthase like 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
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 chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
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 chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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 chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
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 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
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 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar PMID:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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 4:113,890,201...113,899,355
Ensembl chr 4:113,890,509...113,899,347
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
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 chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr12:46,728,684...46,789,696
Ensembl chr12:46,728,699...46,789,726
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 3:123,573,394...123,582,431
Ensembl chr 3:123,578,997...123,581,518
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
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 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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 2:206,499,467...206,699,105
Ensembl chr 2:206,499,463...206,699,105
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar
OMIM
PMID:15184594 PMID:15496425 PMID:18414213 PMID:21520333 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:29704306 PMID:30429133 PMID:30719842 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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 chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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 PMID:27974811 PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
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 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16945936 PMID:17190963 PMID:17594401 PMID:17686188 PMID:17878953 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:22326364 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:30124556 PMID:30266223 PMID:31680123 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
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 chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
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 chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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 PMID:31680123 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
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 9:44,024,994...44,032,896
Ensembl chr 9:44,025,020...44,032,888
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 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
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 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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 OMIM
ClinVar
PMID:14504330 PMID:18179903 PMID:18252226 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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 OMIM
ClinVar
PMID:16917026 PMID:18161030 PMID:18626973 PMID:19261599 PMID:21850686 PMID:22661499 PMID:25741868 PMID:28492532 PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
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 OMIM
ClinVar
PMID:30543681 NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
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 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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:25741868 PMID:28492532 PMID:29805041 PMID:30379605 PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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 PMID:28679452, PMID:28252667 RGD:13831119, RGD:13831120 NCBI chr 1:250,426,027...250,514,245
Ensembl chr 1:250,426,158...250,514,866
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNP:exon:rs2231142(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1
ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 1
CTD
ClinVar
OMIM
PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 PMID:20130569 PMID:20207952 PMID:20368174 PMID:20679960 PMID:21821808 PMID:22112610 PMID:22246505 PMID:22246507 PMID:22992668 PMID:23876492 PMID:23930675 PMID:25630984 PMID:25676789 PMID:26810134 PMID:28322941 PMID:29341237 PMID:29751792 PMID:31578528, PMID:19506252 RGD:13439747 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chr 1:101,138,237...101,151,320
Ensembl chr 1:101,138,248...101,151,320
JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gout ClinVar PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Hp haptoglobin ISO RGD PMID:7281841 RGD:1626362 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Nlrp1b NLR family, pyrin domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr10:57,755,957...57,847,867 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
G Slc17a3 solute carrier family 17 member 3 ISO ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 4 ClinVar
OMIM
PMID:20810651 NCBI chr17:43,518,760...43,545,160
Ensembl chr17:43,518,655...43,543,185
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Gouty Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gouty arthritis ClinVar PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar Annotator: match by OMIM:605130
OMIM
ClinVar
PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:27441994 PMID:27959697 PMID:28330790 PMID:28600779 PMID:29255178 PMID:29574747 PMID:32860008 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism ClinVar PMID:25574841 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
Hand Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:SNPs:exons: (rs2077647, rs1801132) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Il4 interleukin 4 no_association ISO DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: HAND OSTEOARTHRITIS ClinVar PMID:12736871 PMID:25741868 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
hemarthrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) RGD PMID:19444976 RGD:11528538 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Il6 interleukin 6 treatment ISO associated with Hemophilia A RGD PMID:23413986 RGD:11060150 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5e 5' nucleotidase, ecto ISO ClinVar Annotator: match by OMIM:211800 OMIM
ClinVar
PMID:21288095 NCBI chr 8:95,969,002...96,012,733
Ensembl chr 8:95,968,652...96,012,696
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:16288874 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies
ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies
ClinVar Annotator: match by OMIM:162500
OMIM
ClinVar
PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 PMID:8541860 PMID:8988161 PMID:9040737 PMID:9371959 PMID:9452099 PMID:9678704 PMID:9712007 PMID:10078969 PMID:10586280 PMID:11081809 PMID:12439896 PMID:12796555 PMID:14502374 PMID:15205993 PMID:15537650 PMID:15955700 PMID:16288874 PMID:16437560 PMID:17620487 PMID:18698610 PMID:19067730 PMID:19691535 PMID:20842290 PMID:21194947 PMID:21228398 PMID:21252112 PMID:21670407 PMID:21692910 PMID:21962505 PMID:25400662 PMID:25741868 PMID:26012543 PMID:26102530 PMID:26392352 PMID:26467025 PMID:28333917 PMID:28374912 PMID:28492532 PMID:30675404 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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