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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:bone inflammation disease
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Accession:DOID:3342 term browser browse the term
Definition:A bone disease that results_in inflammation of the located_in bone. (DO)
Synonyms:exact_synonym: Bone Inflammation;   bone inflammatory disease;   inflammatory disorder of bone;   osteitis
 primary_id: MESH:D010000
For additional species annotation, visit the Alliance of Genome Resources.

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adult-onset Still's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		JBrowse link
G Ano6 anoctamin 6 severity ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs17095830(human)		 CTD
RGD		 PMID:22138694 PMID:23308121 RGD:9684849 NCBI chrNW_004936512:3,649,103...3,736,274
Ensembl chrNW_004936512:3,540,129...3,732,776 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chrNW_004936749:1,936,307...2,014,452
Ensembl chrNW_004936749:1,936,449...2,015,200 		JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499 		JBrowse link
G Card9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936669:1,428,208...1,438,012
Ensembl chrNW_004936669:1,429,594...1,438,005 		JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chrNW_004936523:6,661,119...6,686,988
Ensembl chrNW_004936523:6,661,315...6,690,425 		JBrowse link
G Erap2 endoplasmic reticulum aminopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chrNW_004936523:6,545,281...6,584,403
Ensembl chrNW_004936523:6,544,207...6,584,452 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076 		JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chrNW_004936713:679,680...716,801
Ensembl chrNW_004936713:701,155...716,650 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
DNA:SNPs,haplotype:multiple:		 CTD
RGD		 PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867 		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 chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739 		JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101968921 angiotensin-converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 RGD:6483530 NCBI chrNW_004936518:1,903,636...1,916,746
Ensembl chrNW_004936518:1,903,725...1,916,746 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936474:9,751,946...9,802,910
Ensembl chrNW_004936474:9,751,946...9,802,910 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004936476:25,899,514...25,907,690
Ensembl chrNW_004936476:25,899,339...25,907,695 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chrNW_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427 		JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chrNW_004936490:13,579,523...13,596,325
Ensembl chrNW_004936490:13,580,915...13,594,582 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tlr5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chrNW_004936526:383,490...387,007
Ensembl chrNW_004936526:383,418...401,552 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177 		JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chrNW_004936489:5,425,778...5,434,483
Ensembl chrNW_004936489:5,425,726...5,434,785 		JBrowse link
ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:32188494 NCBI chrNW_004936665:1,520,800...1,654,388
Ensembl chrNW_004936665:1,520,800...1,653,816 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9605588 NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		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 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147 		JBrowse link
G Agt angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chrNW_004936588:612,255...614,894
Ensembl chrNW_004936588:611,725...617,782 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chrNW_004936497:5,473,293...5,487,344
Ensembl chrNW_004936497:5,476,800...5,487,358 		JBrowse link
G Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chrNW_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841 		JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex subunit 1 susceptibility ISO DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chrNW_004936501:13,459,400...13,461,864
Ensembl chrNW_004936501:13,459,022...13,462,174 		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
OMIM:208085 | OMIM:613404		 CTD
MouseDO		 PMID:20190753 NCBI chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506 		JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392 		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 chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chrNW_004936493:5,455,369...5,463,205
Ensembl chrNW_004936493:5,455,197...5,463,223 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO OMIM:208050 MouseDO NCBI chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity | ClinVar Annotator: match by term: Arterial tortuosity syndrome OMIM
ClinVar		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chrNW_004936514:6,490,728...6,504,152
Ensembl chrNW_004936514:6,493,512...6,497,063 		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 chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487 		JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Arthralgia ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Arthralgias ClinVar PMID:24449199 PMID:28492532 NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		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 chrNW_004936665:1,520,800...1,654,388
Ensembl chrNW_004936665:1,520,800...1,653,816 		JBrowse link
G B2m beta-2-microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		JBrowse link
G Cd40 CD40 molecule ISO associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) RGD PMID:23256180 RGD:7248721 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO RGD PMID:18075852 RGD:2316223 NCBI chrNW_004936474:9,019,044...9,020,110
Ensembl chrNW_004936474:9,019,067...9,020,110 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17299831 PMID:24144632 PMID:26640276 PMID:36121554 PMID:37358659 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Copa COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chrNW_004936740:301,928...347,323
Ensembl chrNW_004936740:301,853...346,746 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12707442 More... NCBI chrNW_004936522:7,858,172...7,875,679
Ensembl chrNW_004936522:7,856,087...7,875,685 		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 chrNW_004936598:3,220,029...3,256,091
Ensembl chrNW_004936598:3,219,991...3,261,629 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) RGD PMID:19035472 RGD:8549572 NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO RGD PMID:32743529 RGD:40924631 NCBI chrNW_004936579:6,138,372...6,149,531
Ensembl chrNW_004936579:6,138,281...6,145,205 		JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A susceptibility ISO associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human)
DNA:SNP:exon:F158V (rs396991)(human)		 RGD PMID:19005160 PMID:19026120 RGD:5508432 RGD:5508443 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101976500 haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chrNW_004936475:21,841,054...21,845,821 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 chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642 		JBrowse link
G Sele selectin E ISO RGD PMID:16207337 RGD:1580041 NCBI chrNW_004936481:16,915,203...16,921,840
Ensembl chrNW_004936481:16,915,182...16,921,840 		JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chrNW_004936780:1,553,605...1,601,036
Ensembl chrNW_004936780:1,553,605...1,598,158 		JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO associated with Behcet Syndrome;DNA:haplotype: : RGD PMID:19395541 RGD:7777177 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Zfp36 ZFP36 ring finger protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chrNW_004936661:2,251,148...2,253,527
Ensembl chrNW_004936661:2,250,665...2,253,787 		JBrowse link
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otof otoferlin ISO ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:22575033 PMID:28492532 More... NCBI chrNW_004936493:5,916,113...5,999,867
Ensembl chrNW_004936493:5,916,113...5,999,784 		JBrowse link
arthrogryposis multiplex congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:36945405 NCBI chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331 		JBrowse link
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201 PMID:26752647 NCBI chrNW_004936625:3,552,611...3,688,281
Ensembl chrNW_004936625:3,552,602...3,688,287 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936673:2,434,984...2,568,868
Ensembl chrNW_004936673:2,435,308...2,565,180 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chrNW_004936525:4,550,987...4,556,574
Ensembl chrNW_004936525:4,550,987...4,556,576 		JBrowse link
G Ecel1 endothelin converting enzyme like 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31694722 NCBI chrNW_004936525:4,599,840...4,608,469
Ensembl chrNW_004936525:4,600,246...4,608,508 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chrNW_004936728:706,499...843,447
Ensembl chrNW_004936728:761,804...844,690 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28317099 PMID:31230720 NCBI chrNW_004936609:2,571,498...2,615,313
Ensembl chrNW_004936609:2,571,501...2,615,313 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251 		JBrowse link
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		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 chrNW_004936595:3,278,829...3,307,134
Ensembl chrNW_004936595:3,278,886...3,308,716 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936481:4,111,417...4,128,411 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:22526018 PMID:23394784 More... NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chrNW_004936504:5,763,929...5,817,309
Ensembl chrNW_004936504:5,763,984...5,871,143 		JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936748:158,290...200,458
Ensembl chrNW_004936748:157,935...201,119 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chrNW_004936816:738,754...741,328
Ensembl chrNW_004936816:740,187...741,210 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936816:805,360...822,044
Ensembl chrNW_004936816:805,317...822,043 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:11738357 PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392 		JBrowse link
arthrogryposis multiplex congenita-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | ClinVar Annotator: match by term: LGI4-related condition OMIM
ClinVar		 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28318499 PMID:28490743 More... NCBI chrNW_004936570:1,122,987...1,131,270
Ensembl chrNW_004936570:1,123,298...1,132,011 		JBrowse link
arthrogryposis multiplex congenita-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type ClinVar PMID:25741868 PMID:27782104 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type OMIM
ClinVar		 PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
arthrogryposis multiplex congenita-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl2 SCY1 like pseudokinase 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:31960134 NCBI chrNW_004936492:13,502,854...13,564,886
Ensembl chrNW_004936492:13,501,663...13,564,867 		JBrowse link
arthrogryposis multiplex congenita-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1 member A ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 OMIM
ClinVar		 PMID:9288096 PMID:11523564 PMID:17503336 PMID:18519876 PMID:18827015 More... NCBI chrNW_004936487:17,012,661...17,020,657
Ensembl chrNW_004936487:17,011,670...17,020,699 		JBrowse link
arthrogryposis multiplex congenita-6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neb nebulin ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 OMIM
ClinVar		 PMID:9536098 PMID:12207938 PMID:15221447 PMID:15336686 PMID:16199547 More... NCBI chrNW_004936469:25,837,577...26,040,271
Ensembl chrNW_004936469:25,837,577...26,039,536 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 ClinVar PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 More... NCBI chrNW_004936469:26,045,500...26,105,980
Ensembl chrNW_004936469:26,048,953...26,105,997 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chrNW_004936520:1,987,989...2,146,473
Ensembl chrNW_004936520:1,987,045...2,146,540 		JBrowse link
Arthrogryposis, Impaired Intellectual Development, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome ClinVar PMID:24031089 PMID:28328131 PMID:28492532 NCBI chrNW_004937224:23,225...32,639 JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chrNW_004936748:158,290...200,458
Ensembl chrNW_004936748:157,935...201,119 		JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:26633546 PMID:28492532 NCBI chrNW_004936488:4,221,099...4,261,401
Ensembl chrNW_004936488:4,220,429...4,261,432 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:26715165 PMID:28492532 NCBI chrNW_004936527:6,380,222...6,412,390
Ensembl chrNW_004936527:6,379,669...6,412,390 		JBrowse link
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506 		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:9536098 PMID:11668108 PMID:15052268 PMID:16896922 More... NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM
ClinVar		 PMID:20190753 PMID:25741868 PMID:25741916 PMID:28492532 PMID:31479177 NCBI chrNW_004936488:6,247,329...6,277,494
Ensembl chrNW_004936488:6,247,296...6,277,506 		JBrowse link
arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO PPAC, OMIM:208230 RGD PMID:10471507 RGD:1599850 NCBI chrNW_004936679:751,664...767,126
Ensembl chrNW_004936679:750,934...769,242 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chrNW_004936596:344,287...373,788
Ensembl chrNW_004936596:344,274...373,952 		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 chrNW_004936490:2,823,531...2,853,282
Ensembl chrNW_004936490:2,827,416...2,852,917 		JBrowse link
autoimmune interstitial lung, joint, and kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,295,299...1,298,441
Ensembl chrNW_004936740:1,295,319...1,296,812 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:490,718...500,443
Ensembl chrNW_004936903:491,139...500,443 		JBrowse link
G Aim2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,447,869...1,460,836
Ensembl chrNW_004936740:1,451,001...1,460,836 		JBrowse link
G Apcs amyloid P component, serum ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:979,007...987,312
Ensembl chrNW_004936740:986,460...987,361 		JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:520,420...521,726
Ensembl chrNW_004936903:520,650...521,910 		JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:361,076...379,595 JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:170,649...183,942 JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
G B4galt3 beta-1,4-galactosyltransferase 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:474,789...481,342 JBrowse link
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,298,512...1,331,376
Ensembl chrNW_004936740:1,299,043...1,331,453 		JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:430,367...442,468
Ensembl chrNW_004936740:430,026...442,539 		JBrowse link
G Cd244 CD244 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:146,108...162,410 JBrowse link
G Cd48 CD48 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:7,662...24,010
Ensembl chrNW_004936740:7,633...24,236 		JBrowse link
G Cd84 CD84 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:111,296...133,847
Ensembl chrNW_004936740:123,885...134,097 		JBrowse link
G Cfap126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:638,391...642,241 JBrowse link
G Cfap45 cilia and flagella associated protein 45 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:710,076...738,766
Ensembl chrNW_004936740:710,076...738,701 		JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 More... NCBI chrNW_004936740:301,928...347,323
Ensembl chrNW_004936740:301,853...346,746 		JBrowse link
G Crp C-reactive protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:368,795...415,997
Ensembl chrNW_004936740:387,469...413,961 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
G Dedd death effector domain containing ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:436,949...448,670
Ensembl chrNW_004936903:435,447...448,025 		JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:156,175...163,392
Ensembl chrNW_004937131:156,201...163,153 		JBrowse link
G Dusp23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004943943:31...1,797 JBrowse link
G F11r F11 receptor ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:317,975...338,892
Ensembl chrNW_004936903:315,716...338,932 		JBrowse link
G Fcer1a Fc fragment of IgE receptor Ia ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,201,370...1,206,871 JBrowse link
G Fcer1g Fc fragment of IgE receptor Ig ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:514,278...517,975
Ensembl chrNW_004936903:514,761...517,948 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:80,014...96,114 JBrowse link
G Fcrl6 Fc receptor like 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:794,680...809,560 JBrowse link
G Fcrla Fc receptor like A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:108,524...116,330
Ensembl chrNW_004937131:108,524...116,330 		JBrowse link
G Fcrlb Fc receptor like B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:128,256...132,577
Ensembl chrNW_004937131:128,260...132,589 		JBrowse link
G Hspa6 heat shock protein family A (Hsp70) member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:25,603...28,458
Ensembl chrNW_004937131:25,551...28,457 		JBrowse link
G Igsf8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:528,826...535,776
Ensembl chrNW_004936740:528,821...535,776 		JBrowse link
G Igsf9 immunoglobulin superfamily member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:669,101...688,124
Ensembl chrNW_004936740:670,306...688,154 		JBrowse link
G Itln1 intelectin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:191,836...199,448 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		JBrowse link
G Kcnj9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:536,397...545,137
Ensembl chrNW_004936740:538,688...545,247 		JBrowse link
G Klhdc9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:410,408...413,402
Ensembl chrNW_004936903:410,932...415,060 		JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101960259 carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:271,604...591,461
Ensembl chrNW_004936831:583,823...588,524
Ensembl chrNW_004936831:583,823...588,524 		JBrowse link
G LOC101966280 sodium/potassium-transporting ATPase subunit alpha-4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:445,952...478,580
Ensembl chrNW_004936740:445,952...478,532 		JBrowse link
G LOC101970211 olfactory receptor 10J5 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,047,708...1,048,645
Ensembl chrNW_004936740:1,040,510...1,048,637 		JBrowse link
G LOC101971086 olfactory receptor 10J3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,196,967...1,197,926
Ensembl chrNW_004936740:1,196,967...1,197,908 		JBrowse link
G LOC101972171 olfactory receptor 6N2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,593,667...1,594,620
Ensembl chrNW_004936740:1,593,667...1,594,620 		JBrowse link
G LOC101972437 olfactory receptor 6N1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,618,422...1,619,374
Ensembl chrNW_004936740:1,618,436...1,619,374 		JBrowse link
G LOC101972731 olfactory receptor 6K6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,628,557...1,629,516
Ensembl chrNW_004936740:1,628,557...1,629,483 		JBrowse link
G LOC101973019 olfactory receptor 6K3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,641,900...1,642,847 JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160 		JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:503,633...514,235
Ensembl chrNW_004936903:499,300...514,893 		JBrowse link
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:381,383...398,339
Ensembl chrNW_004936903:381,424...398,350 		JBrowse link
G Nhlh1 nescient helix-loop-helix 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:273,294...278,419
Ensembl chrNW_004936740:274,395...278,419 		JBrowse link
G Nit1 nitrilase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:432,585...436,697
Ensembl chrNW_004936903:431,897...439,718 		JBrowse link
G Nlrp12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936994:20,848...36,757
Ensembl chrNW_004936994:20,854...36,757 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1 group I member 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:527,838...533,930
Ensembl chrNW_004936903:527,871...533,790 		JBrowse link
G Olfml2b olfactomedin like 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:169,866...210,974
Ensembl chrNW_004936831:169,864...211,315 		JBrowse link
G Pcp4l1 Purkinje cell protein 4 like 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:544,343...567,357
Ensembl chrNW_004936903:544,348...566,718 		JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:416,355...426,801
Ensembl chrNW_004936740:416,355...426,801 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:351,089...357,657
Ensembl chrNW_004936740:351,045...359,033 		JBrowse link
G Pfdn2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:413,604...432,561
Ensembl chrNW_004936903:413,604...432,566 		JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis class M ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:595,932...597,964
Ensembl chrNW_004936740:596,072...597,343 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:470,317...474,705
Ensembl chrNW_004936903:470,344...478,025 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092 		JBrowse link
G Sh2d1b SH2 domain containing 1B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:604,308...635,459 JBrowse link
G Slamf1 signaling lymphocytic activation molecule family member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:55,941...92,100
Ensembl chrNW_004936740:55,941...92,100 		JBrowse link
G Slamf6 SLAM family member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:155,268...165,536 JBrowse link
G Slamf7 SLAM family member 7 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532
G Slamf8 SLAM family member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:776,557...786,182
Ensembl chrNW_004936740:776,455...786,357 		JBrowse link
G Slamf9 SLAM family member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:661,663...665,166
Ensembl chrNW_004936740:661,619...665,186 		JBrowse link
G Spata46 spermatogenesis associated 46 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:579,027...582,389
Ensembl chrNW_004936831:579,036...581,979 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:1,686,218...1,759,083
Ensembl chrNW_004936740:1,686,218...1,759,078 		JBrowse link
G Tagln2 transgelin 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:689,745...697,145
Ensembl chrNW_004936740:689,595...699,763 		JBrowse link
G Tomm40l translocase of outer mitochondrial membrane 40 like ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:524,159...528,674
Ensembl chrNW_004936903:524,111...527,765 		JBrowse link
G Tstd1 thiosulfate sulfurtransferase like domain containing 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:350,895...352,302
Ensembl chrNW_004936903:350,927...352,461 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:733,072...770,495
Ensembl chrNW_004936831:732,967...771,478 		JBrowse link
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:449,042...462,727
Ensembl chrNW_004936903:449,039...462,727 		JBrowse link
G Uhmk1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936831:680,929...701,804
Ensembl chrNW_004936831:680,867...695,328 		JBrowse link
G Usf1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:352,569...359,350
Ensembl chrNW_004936903:352,590...359,398 		JBrowse link
G Usp21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936903:462,617...469,592
Ensembl chrNW_004936903:464,353...469,345 		JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:228,377...242,318
Ensembl chrNW_004936740:228,317...242,601 		JBrowse link
G Vsig8 V-set and immunoglobulin domain containing 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:752,134...756,428
Ensembl chrNW_004936740:748,581...756,424 		JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1 NLR family pyrin domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis ClinVar
OMIM		 PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chrNW_004936677:2,248,153...2,290,802
Ensembl chrNW_004936677:2,248,903...2,289,151 		JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease OMIM
ClinVar		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... NCBI chrNW_004936501:5,833,391...5,846,021
Ensembl chrNW_004936501:5,833,391...5,846,164 		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 ClinVar Annotator: match by term: Bethlem myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936788:533,811...645,821
Ensembl chrNW_004936788:533,802...645,907 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chrNW_004936778:515,600...530,828 JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098 PMID:12840783 More... NCBI chrNW_004936778:394,985...430,070
Ensembl chrNW_004936778:394,953...430,113 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936778:375,800...390,764
Ensembl chrNW_004936778:375,800...390,554 		JBrowse link
Bethlem Myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:1,559,575...1,570,679 JBrowse link
G Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:1,898,006...2,249,698
Ensembl chrNW_004936525:1,904,777...2,221,147 		JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,068,235...1,106,137 JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532
G Asb1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:79,568...94,147
Ensembl chrNW_004936525:84,907...97,210 		JBrowse link
G Asb18 ankyrin repeat and SOCS box containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:1,790,901...1,854,724
Ensembl chrNW_004936525:1,790,901...1,853,508 		JBrowse link
G Atg4b autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:291,311...308,469
Ensembl chrNW_004936745:292,746...307,746 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:344,837...350,950
Ensembl chrNW_004936745:345,635...351,749 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,029,514...1,039,524 JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chrNW_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: COL6A1-related condition
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)		 OMIM
ClinVar
RGD		 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 More... RGD:1600934 NCBI chrNW_004936778:515,600...530,828 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 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 RGD
ClinVar		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chrNW_004936778:394,985...430,070
Ensembl chrNW_004936778:394,953...430,113 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:3352914 PMID:7695699 PMID:8218237 PMID:8817344 PMID:9536084 More... NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:1,168,995...1,180,763
Ensembl chrNW_004936525:1,166,946...1,180,838 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,291,702...1,295,834 JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:208,510...234,056
Ensembl chrNW_004936745:208,513...234,118 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:282,199...289,273 JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,063,365...1,064,590
Ensembl chrNW_004936745:1,063,359...1,064,826 		JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:324,814...330,067
Ensembl chrNW_004936525:323,090...329,664 		JBrowse link
G Espnl espin like ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:352,389...380,214
Ensembl chrNW_004936525:352,389...380,214 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:427,093...504,653
Ensembl chrNW_004936745:426,846...504,672 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936778:375,800...390,764
Ensembl chrNW_004936778:375,800...390,554 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532
G Gbx2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:1,870,211...1,873,536
Ensembl chrNW_004936525:1,870,195...1,873,539 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,118,732...1,127,169 JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:993,375...994,292
Ensembl chrNW_004936745:993,375...994,373 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:555,020...608,572
Ensembl chrNW_004936745:555,710...607,135 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:267,791...269,511
Ensembl chrNW_004936525:267,753...269,527 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:303,436...322,677
Ensembl chrNW_004936525:303,499...322,563 		JBrowse link
G Ing5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:261,371...271,447
Ensembl chrNW_004936745:261,450...271,943 		JBrowse link
G Iqca1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:1,613,034...1,740,726
Ensembl chrNW_004936525:1,621,562...1,740,354 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199 		JBrowse link
G Klhl30 kelch like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:337,473...347,860
Ensembl chrNW_004936525:337,308...347,906 		JBrowse link
G LOC101961398 olfactory receptor 6B3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,402,693...1,412,517 JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:593,048...663,066
Ensembl chrNW_004936525:593,054...662,958 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:845,240...852,776
Ensembl chrNW_004936745:844,883...852,803 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:776,102...821,067
Ensembl chrNW_004936525:775,955...821,085 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:705,448...709,429 JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,436,257...1,471,785
Ensembl chrNW_004936745:1,436,234...1,471,843 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:172,983...175,470 JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,287,653...1,290,342
Ensembl chrNW_004936745:1,289,041...1,290,077 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:664,062...704,027 JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:221,601...263,284
Ensembl chrNW_004936525:221,510...263,295 		JBrowse link
G Ppp1r7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:639,379...663,926 JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 Ensembl chrNW_004936525:770,177...770,863 JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:748,851...765,636
Ensembl chrNW_004936525:748,600...765,642 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:503,119...540,159
Ensembl chrNW_004936525:503,070...540,281 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:556,497...585,503
Ensembl chrNW_004936525:556,513...569,589 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:1,049,917...1,058,817
Ensembl chrNW_004936745:1,049,924...1,058,825 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:381,188...407,544
Ensembl chrNW_004936525:381,168...407,599 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:518,650...555,187
Ensembl chrNW_004936745:518,391...546,953 		JBrowse link
G Sned1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:709,446...761,932
Ensembl chrNW_004936745:714,368...776,355 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:420,591...426,890
Ensembl chrNW_004936745:420,073...426,393 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:324,988...338,257
Ensembl chrNW_004936745:316,748...338,142 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:115,614...174,641
Ensembl chrNW_004936525:115,479...174,694 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936745:2,067,272...2,067,948
Ensembl chrNW_004936745:2,028,286...2,067,948 		JBrowse link
G Ube2f ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chrNW_004936525:418,554...472,850 JBrowse link
Bethlem Myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:15689448 PMID:16199547 More... NCBI chrNW_004936778:394,985...430,070
Ensembl chrNW_004936778:394,953...430,113 		JBrowse link
Bethlem Myopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377 		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 Annotator: match by term: COL12A1-related condition OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:25741905 PMID:27348394 More... NCBI chrNW_004936788:533,811...645,821
Ensembl chrNW_004936788:533,802...645,907 		JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chrNW_004936554:3,908,570...3,925,957
Ensembl chrNW_004936554:3,908,413...3,925,942 		JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip OMIM
ClinVar		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:25741905 PMID:26428751 More... NCBI chrNW_004936554:3,926,046...3,945,575
Ensembl chrNW_004936554:3,925,982...3,948,450 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383G (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder | ClinVar Annotator: match by term: PLOD3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:25741916 More... NCBI chrNW_004936543:1,090,268...1,097,170
Ensembl chrNW_004936543:1,090,253...1,097,301 		JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29228253 NCBI chrNW_004936641:1,193,085...1,205,283 JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936662:388,279...524,803
Ensembl chrNW_004936662:390,894...516,485 		JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition OMIM
ClinVar		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chrNW_004936641:1,193,085...1,205,283 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2 OMIM
ClinVar		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chrNW_004936662:388,279...524,803
Ensembl chrNW_004936662:390,894...516,485 		JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome ClinVar PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936490:16,712,843...16,720,438
Ensembl chrNW_004936490:16,712,761...16,720,499 		JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chrNW_004936585:5,650,322...5,686,393
Ensembl chrNW_004936585:5,651,180...5,685,923 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome 1 OMIM
ClinVar		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chrNW_004936490:16,712,843...16,720,438
Ensembl chrNW_004936490:16,712,761...16,720,499 		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 term: PLOD2-related condition OMIM
ClinVar		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chrNW_004936519:9,053,192...9,139,221
Ensembl chrNW_004936519:9,053,033...9,140,059 		JBrowse link
Caffey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P1PK blood group) ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 PMID:28492532 NCBI chrNW_004936718:594,462...630,926 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis OMIM
ClinVar		 PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More... NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		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 OMIM
ClinVar		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chrNW_004936481:4,111,417...4,128,411 JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chrNW_004936481:4,050,693...4,111,682
Ensembl chrNW_004936481:4,050,794...4,111,682 		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 ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 OMIM
ClinVar		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chrNW_004936706:1,811,727...1,816,485
Ensembl chrNW_004936706:1,812,068...1,819,639 		JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 OMIM
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745 		JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chrNW_004936706:1,852,350...1,854,921
Ensembl chrNW_004936706:1,852,359...1,857,623 		JBrowse link
chondrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chrNW_004936665:1,520,800...1,654,388
Ensembl chrNW_004936665:1,520,800...1,653,816 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chrNW_004936665:1,654,045...1,690,955
Ensembl chrNW_004936665:1,668,311...1,690,918 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		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: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2 OMIM
ClinVar		 PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 More... NCBI chrNW_004936665:1,520,800...1,654,388
Ensembl chrNW_004936665:1,520,800...1,653,816 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2 ClinVar PMID:2712793 PMID:11326272 PMID:19449425 PMID:25741868 PMID:28492532 NCBI chrNW_004936665:1,654,045...1,690,955
Ensembl chrNW_004936665:1,668,311...1,690,918 		JBrowse link
chondrodysplasia with joint dislocations gPAPP type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type OMIM
ClinVar		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:25741909 More... NCBI chrNW_004936496:3,498,534...3,521,939
Ensembl chrNW_004936496:3,500,303...3,521,673 		JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936491:615,515...770,636
Ensembl chrNW_004936491:615,666...771,199 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis OMIM
ClinVar		 NCBI chrNW_004936713:808,761...881,070
Ensembl chrNW_004936713:808,659...881,076 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chrNW_004936475:23,591,483...23,618,152
Ensembl chrNW_004936475:23,591,493...23,618,660 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936593:2,629,750...2,645,211
Ensembl chrNW_004936593:2,629,794...2,645,258 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase interacting protein 2 ISO OMIM:259680 MouseDO NCBI chrNW_004936517:766,246...830,735
Ensembl chrNW_004936517:765,725...830,761 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chrNW_004936514:10,987,728...11,027,450
Ensembl chrNW_004936514:10,987,984...11,027,502 		JBrowse link
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: GLE1-related condition | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease OMIM
ClinVar		 PMID:7770128 PMID:16892327 PMID:18204449 PMID:22484600 PMID:24243016 More... NCBI chrNW_004936487:16,031,832...16,063,779
Ensembl chrNW_004936487:16,031,824...16,063,803 		JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis OMIM
ClinVar		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25741916 More... NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638 		JBrowse link
congenital myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779 		JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:2,890,336...3,011,314
Ensembl chrNW_004936595:2,894,643...2,993,545 		JBrowse link
G Glp2r glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:2,787,978...2,868,033
Ensembl chrNW_004936595:2,787,963...2,868,051 		JBrowse link
G LOC101973267 myosin-4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:3,324,345...3,349,606 JBrowse link
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
G LOC101974307 protein SCO1 homolog, mitochondrial ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:3,523,789...3,537,933
Ensembl chrNW_004936595:3,523,779...3,538,150 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:3,363,974...3,416,849
Ensembl chrNW_004936595:3,363,975...3,388,385 		JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:3,204,487...3,262,459
Ensembl chrNW_004936595:3,204,573...3,255,494 		JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia OMIM
ClinVar		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chrNW_004936595:3,391,179...3,398,610 JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:3,278,829...3,307,134
Ensembl chrNW_004936595:3,278,886...3,308,716 		JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chrNW_004936595:2,873,739...2,882,150
Ensembl chrNW_004936595:2,871,630...2,882,557 		JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466 		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 chrNW_004936588:460,308...477,382
Ensembl chrNW_004936588:461,389...477,229 		JBrowse link
G Adamtsl2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chrNW_004936669:3,363,991...3,397,099
Ensembl chrNW_004936669:3,363,867...3,397,402 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chrNW_004936749:1,936,307...2,014,452
Ensembl chrNW_004936749:1,936,449...2,015,200 		JBrowse link
G Chrm1 cholinergic receptor muscarinic 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chrNW_004936581:387,939...400,740
Ensembl chrNW_004936581:387,705...400,740 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G Drg1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936755:557,862...583,204
Ensembl chrNW_004936755:557,903...583,192 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936609:2,571,498...2,615,313
Ensembl chrNW_004936609:2,571,501...2,615,313 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26489027 PMID:28492532 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823 		JBrowse link
G Fbn3 fibrillin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chrNW_004936588:5,000,128...5,054,177
Ensembl chrNW_004936588:5,000,645...5,054,228 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 NCBI chrNW_004936477:22,177,473...22,189,554
Ensembl chrNW_004936477:22,177,457...22,189,655 		JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936741:1,784,802...1,796,176
Ensembl chrNW_004936741:1,783,589...1,796,168 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936478:3,809,288...3,813,014
Ensembl chrNW_004936478:3,809,288...3,813,014 		JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936502:5,634,319...5,638,869
Ensembl chrNW_004936502:5,636,564...5,638,869 		JBrowse link
G Mybpc2 myosin binding protein C2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chrNW_004936889:259,055...283,023
Ensembl chrNW_004936889:265,047...283,020 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chrNW_004936561:5,721,353...5,744,623
Ensembl chrNW_004936561:5,721,587...5,744,867 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 NCBI chrNW_004936471:31,255,387...31,548,819
Ensembl chrNW_004936471:31,259,652...31,473,926 		JBrowse link
G Myom2 myomesin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936615:1,153,056...1,223,239
Ensembl chrNW_004936615:1,153,065...1,223,239 		JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936474:9,134,826...9,178,439
Ensembl chrNW_004936474:9,134,581...9,178,515 		JBrowse link
G Nr2c1 nuclear receptor subfamily 2 group C member 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936507:11,266,408...11,319,642
Ensembl chrNW_004936507:11,264,737...11,319,642 		JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:16199547 PMID:27653382 PMID:27843126 PMID:28492532 NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082 		JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936474:1,910,026...1,924,900
Ensembl chrNW_004936474:1,862,898...1,949,500 		JBrowse link
G Prg4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chrNW_004936481:4,111,417...4,128,411 JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chrNW_004936555:2,955,982...3,253,064
Ensembl chrNW_004936555:2,963,963...3,284,619 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 PMID:29498452 PMID:31230720 NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066 		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 chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936567:1,941,651...1,984,422
Ensembl chrNW_004936567:1,941,639...1,984,428 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936488:4,986,712...5,008,728
Ensembl chrNW_004936488:4,986,748...5,008,496 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936493:5,501,741...5,510,469
Ensembl chrNW_004936493:5,502,762...5,510,477 		JBrowse link
G Tor1a torsin family 1 member A ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chrNW_004936487:17,012,661...17,020,657
Ensembl chrNW_004936487:17,011,670...17,020,699 		JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chrNW_004936578:4,842,899...5,091,439
Ensembl chrNW_004936578:4,840,636...5,091,474 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Pterygium universale OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chrNW_004936525:4,550,987...4,556,574
Ensembl chrNW_004936525:4,550,987...4,556,576 		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 LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		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 Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chrNW_004936525:4,550,987...4,556,574
Ensembl chrNW_004936525:4,550,987...4,556,576 		JBrowse link
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron:g.13011943A>G (rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11054804 RGD:11057923 RGD:11058683 RGD:401901247 NCBI chrNW_004936534:42,354...323,735
Ensembl chrNW_004936534:42,433...536,171 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chrNW_004936783:1,414,359...1,416,715
Ensembl chrNW_004936783:1,414,359...1,416,715 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis OMIM
ClinVar		 PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chrNW_004936783:1,396,720...1,404,416
Ensembl chrNW_004936783:1,401,482...1,404,416 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:19853239 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:3,318,460...3,325,677
Ensembl chrNW_004936594:3,318,425...3,332,973 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chrNW_004936501:4,164,714...4,337,604
Ensembl chrNW_004936501:4,187,213...4,331,783 		JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004936501:3,400,971...3,467,061
Ensembl chrNW_004936501:3,401,285...3,470,460 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004936501:3,469,928...3,508,577 JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chrNW_004936594:3,318,460...3,325,677
Ensembl chrNW_004936594:3,318,425...3,332,973 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004936501:3,320,671...3,333,705
Ensembl chrNW_004936501:3,318,701...3,333,845 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chrNW_004936501:4,164,714...4,337,604
Ensembl chrNW_004936501:4,187,213...4,331,783 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chrNW_004936501:4,164,714...4,337,604
Ensembl chrNW_004936501:4,187,213...4,331,783 		JBrowse link
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		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 ISO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chrNW_004936525:4,599,840...4,608,469
Ensembl chrNW_004936525:4,600,246...4,608,508 		JBrowse link
G Fbn2 fibrillin 2 ISO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435 		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 chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chrNW_004936492:12,373,240...12,455,371
Ensembl chrNW_004936492:12,374,708...12,455,031 		JBrowse link
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chrNW_004936501:12,844,787...12,847,070
Ensembl chrNW_004936501:12,844,676...12,847,068 		JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chrNW_004936816:738,754...741,328
Ensembl chrNW_004936816:740,187...741,210 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936816:805,360...822,044
Ensembl chrNW_004936816:805,317...822,043 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G Usp14 ubiquitin specific peptidase 14 ISO ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement ClinVar PMID:25741868 PMID:35066879 NCBI chrNW_004936550:640,331...675,703
Ensembl chrNW_004936550:635,963...675,832 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chrNW_004936595:3,278,829...3,307,134
Ensembl chrNW_004936595:3,278,886...3,308,716 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:11738357 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18420702 More... NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		JBrowse link
Distal Arthrogryposis Type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30777867 NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179 		JBrowse link
Distal Arthrogryposis Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 12 OMIM
ClinVar		 PMID:35962790 NCBI chrNW_004936572:1,935,780...1,960,888
Ensembl chrNW_004936572:1,936,529...1,960,800 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,569,610...1,582,103
Ensembl chrNW_004936524:1,570,627...1,576,329 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,963,427...1,969,977
Ensembl chrNW_004936524:1,963,247...1,969,998 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,898,635...1,915,078 JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,660,364...3,663,664
Ensembl chrNW_004936524:3,660,454...3,663,696 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,705,112...2,711,557
Ensembl chrNW_004936524:2,705,121...2,711,557 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,133,288...3,144,726
Ensembl chrNW_004936524:3,133,288...3,140,193 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,659,791...1,713,971
Ensembl chrNW_004936524:1,659,608...1,714,102 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,793,001...1,804,145
Ensembl chrNW_004936524:1,791,119...1,804,151 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,143,238...4,145,183
Ensembl chrNW_004936524:4,143,347...4,145,113 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,743,106...2,743,759
Ensembl chrNW_004936524:2,743,068...2,743,746 		JBrowse link
G Cd72 CD72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,620,464...3,629,065
Ensembl chrNW_004936524:3,620,912...3,629,065 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,804,643...1,820,491 JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371 		JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,170,425...4,191,951
Ensembl chrNW_004936524:4,169,732...4,191,951 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,636,166...2,674,488
Ensembl chrNW_004936524:2,636,166...2,674,192 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chrNW_004936490:17,412,837...17,430,123
Ensembl chrNW_004936490:17,412,878...17,429,041 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,727,104...3,730,962
Ensembl chrNW_004936524:3,727,098...3,730,975 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,239,972...2,272,885
Ensembl chrNW_004936524:2,238,602...2,273,349 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,696,096...2,704,162
Ensembl chrNW_004936524:2,696,053...2,704,213 		JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,551,431...2,614,245
Ensembl chrNW_004936524:2,572,956...2,614,026 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,599,883...1,611,302
Ensembl chrNW_004936524:1,599,913...1,610,682 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,038,489...3,047,546
Ensembl chrNW_004936524:3,039,183...3,048,803 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,614,299...2,616,073
Ensembl chrNW_004936524:2,614,299...2,616,073 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,580,855...5,586,170
Ensembl chrNW_004936524:5,581,090...5,586,128 		JBrowse link
G Fam219a family with sequence similarity 219 member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,494,954...2,550,992
Ensembl chrNW_004936524:2,492,634...2,551,147 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,285,844...5,355,212
Ensembl chrNW_004936524:5,283,828...5,355,392 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,469,495...5,557,109
Ensembl chrNW_004936524:5,469,422...5,557,117 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531 		JBrowse link
G Glipr2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,118,964...4,139,901
Ensembl chrNW_004936524:4,118,697...4,139,942 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,912,344...3,913,231
Ensembl chrNW_004936524:3,912,416...3,912,796 		JBrowse link
G Il11ra interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,375,133...2,417,096
Ensembl chrNW_004936524:2,375,981...2,417,096 		JBrowse link
G LOC101958294 histidine triad nucleotide-binding protein 2, mitochondrial ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,807,426...3,816,391
Ensembl chrNW_004936524:3,807,494...3,813,535
Ensembl chrNW_004936524:3,807,494...3,813,535 		JBrowse link
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,479,639...4,544,561
Ensembl chrNW_004936524:4,469,256...4,544,290 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,746,426...3,751,124
Ensembl chrNW_004936524:3,746,502...3,747,525 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chrNW_004936595:3,278,829...3,307,134
Ensembl chrNW_004936595:3,278,886...3,308,716 		JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768
Ensembl chrNW_004936524:2,472,624...2,492,768 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,231,744...1,243,783
Ensembl chrNW_004936524:1,231,852...1,243,659 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,824,629...1,886,726
Ensembl chrNW_004936524:1,823,813...1,886,721 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,981,832...1,997,153
Ensembl chrNW_004936524:1,982,898...1,997,054 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,700,815...4,887,035
Ensembl chrNW_004936524:4,700,841...4,887,106 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,020,421...3,031,720
Ensembl chrNW_004936524:3,005,705...3,031,744 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,265,489...5,284,231
Ensembl chrNW_004936524:5,265,441...5,288,417 		JBrowse link
G Reck reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,021,666...4,099,703
Ensembl chrNW_004936524:4,021,660...4,099,705 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,742,590...3,746,371
Ensembl chrNW_004936524:3,742,596...3,750,742 		JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,141,840...1,200,638
Ensembl chrNW_004936524:1,140,971...1,200,638 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,281,124...4,359,378
Ensembl chrNW_004936524:4,281,224...4,337,733 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,692,179...2,694,461 JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,649,195...3,650,792
Ensembl chrNW_004936524:3,649,714...3,650,679 		JBrowse link
G Smu1 SMU1 DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,615,299...1,639,133
Ensembl chrNW_004936524:1,615,129...1,639,193 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,798,144...3,801,479
Ensembl chrNW_004936524:3,798,281...3,800,704 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,804,957...2,810,940 JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,074,901...3,079,980
Ensembl chrNW_004936524:3,075,250...3,079,233 		JBrowse link
G Spink4 serine peptidase inhibitor Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,784,805...1,789,464
Ensembl chrNW_004936524:1,785,415...1,790,954 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,129,149...3,132,405
Ensembl chrNW_004936524:3,129,148...3,133,056 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,615,933...3,620,384
Ensembl chrNW_004936524:3,615,927...3,621,474 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,693,679...3,727,055
Ensembl chrNW_004936524:3,693,679...3,727,098 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,395,860...1,402,013
Ensembl chrNW_004936524:1,400,526...1,401,233 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,816,524...3,840,959
Ensembl chrNW_004936524:3,816,490...3,843,349 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,371,768...5,375,443
Ensembl chrNW_004936524:5,371,775...5,375,443 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,561,622...5,579,263
Ensembl chrNW_004936524:5,561,647...5,579,230 		JBrowse link
G Ubap1 ubiquitin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,322,653...2,373,685
Ensembl chrNW_004936524:2,322,634...2,374,349 		JBrowse link
G Ubap2 ubiquitin associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,107,263...2,210,200
Ensembl chrNW_004936524:2,107,230...2,210,225 		JBrowse link
G Ube2r2 ubiquitin conjugating enzyme E2 R2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:2,005,508...2,103,878
Ensembl chrNW_004936524:2,005,590...2,103,389 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,320,859...3,369,865 JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:5,220,785...5,253,812
Ensembl chrNW_004936524:5,222,968...5,253,812 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chrNW_004936524:4,927,956...5,154,225
Ensembl chrNW_004936524:4,927,836...5,168,337 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chrNW_004936492:12,373,240...12,455,371
Ensembl chrNW_004936492:12,374,708...12,455,031 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chrNW_004936501:12,844,787...12,847,070
Ensembl chrNW_004936501:12,844,676...12,847,068 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 More... NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities ClinVar PMID:16642020 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936816:738,754...741,328
Ensembl chrNW_004936816:740,187...741,210 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B ClinVar PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... NCBI chrNW_004936816:805,360...822,044
Ensembl chrNW_004936816:805,317...822,043 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities ClinVar PMID:25741868 NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 More... NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 OMIM
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 More... NCBI chrNW_004936816:738,754...741,328
Ensembl chrNW_004936816:740,187...741,210 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004936816:805,360...822,044
Ensembl chrNW_004936816:805,317...822,043 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:25741868 NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		JBrowse link
distal arthrogryposis type 2B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 OMIM
ClinVar		 PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... NCBI chrNW_004936816:805,360...822,044
Ensembl chrNW_004936816:805,317...822,043 		JBrowse link
distal arthrogryposis type 2B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) OMIM
ClinVar		 PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 More... NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 ClinVar PMID:17339586 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 More... NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308 		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: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082 		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 OMIM
ClinVar		 PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082 		JBrowse link
distal arthrogryposis type 5D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme like 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 5D OMIM
ClinVar		 PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 More... NCBI chrNW_004936525:4,599,840...4,608,469
Ensembl chrNW_004936525:4,600,246...4,608,508 		JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 More... NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition OMIM
ClinVar		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... NCBI chrNW_004936595:3,278,829...3,307,134
Ensembl chrNW_004936595:3,278,886...3,308,716 		JBrowse link
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch OMIM
ClinVar		 PMID:8423615 PMID:9536098 PMID:11152147 PMID:17576681 PMID:24726473 More... NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chrNW_004936824:957,783...995,465
Ensembl chrNW_004936824:957,848...995,260 		JBrowse link
Experimental Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:intestinal mucosa (rat)
mRNA:altered expression:liver		 CTD
RGD		 PMID:17827786 PMID:19152228 RGD:11040994 RGD:2315573 NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO mRNA:decreased expression:kidney RGD PMID:22974786 RGD:11038789 NCBI chrNW_004936501:3,469,928...3,508,577 JBrowse link
G Acan aggrecan treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
G Acsl1 acyl-CoA synthetase long chain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chrNW_004936554:4,425,518...4,484,853
Ensembl chrNW_004936554:4,425,495...4,484,887 		JBrowse link
G Acsl4 acyl-CoA synthetase long chain family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chrNW_004936499:5,456,985...5,540,115
Ensembl chrNW_004936499:5,456,986...5,540,144 		JBrowse link
G Acsl5 acyl-CoA synthetase long chain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chrNW_004936486:2,952,379...2,992,148
Ensembl chrNW_004936486:2,967,522...2,991,154 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 ISO RGD PMID:23897050 RGD:13703039 NCBI chrNW_004936471:19,760,709...19,911,759
Ensembl chrNW_004936471:19,758,118...19,911,759 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 ISO RGD PMID:23897050 RGD:13703039 NCBI chrNW_004936532:5,864,851...5,904,005
Ensembl chrNW_004936532:5,864,867...5,904,003 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 RGD
CTD		 PMID:19026984 PMID:21681567 PMID:23326410 RGD:5685385 RGD:5686814 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		JBrowse link
G Adk adenosine kinase ISO RGD PMID:11160636 RGD:6482663 NCBI chrNW_004936521:4,560,078...5,023,780
Ensembl chrNW_004936521:4,557,971...5,023,800 		JBrowse link
G Ahcy adenosylhomocysteinase ISO RGD PMID:11123369 RGD:1598898 NCBI chrNW_004936561:6,314,797...6,333,961
Ensembl chrNW_004936561:6,314,705...6,334,439 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:22391142 RGD:10041007 NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19675173 RGD:5509599 NCBI chrNW_004936677:3,232,183...3,241,307
Ensembl chrNW_004936677:3,232,183...3,241,253 		JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:10403283 PMID:23267026 RGD:2306928 RGD:7421573 NCBI chrNW_004936503:9,124,314...9,142,372
Ensembl chrNW_004936503:9,124,264...9,142,413 		JBrowse link
G Anxa2 annexin A2 ameliorates ISO RGD PMID:24819400 RGD:150519886 NCBI chrNW_004936471:21,274,112...21,329,286
Ensembl chrNW_004936471:21,274,027...21,329,503 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:decreased expression:blood serum (rat) RGD PMID:10892728 RGD:5685694 NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127 		JBrowse link
G Arrb1 arrestin beta 1 ISO protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chrNW_004936498:4,089,621...4,172,749
Ensembl chrNW_004936498:4,094,893...4,172,755 		JBrowse link
G Arrb2 arrestin beta 2 ISO protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chrNW_004936677:3,173,054...3,181,475
Ensembl chrNW_004936677:3,172,925...3,181,520 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO RGD PMID:17408934 RGD:5144054 NCBI chrNW_004936586:1,782,581...1,809,458
Ensembl chrNW_004936586:1,782,528...1,810,010 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:21199477 PMID:22978269 RGD:10054249 RGD:10054498 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:21199477 PMID:22978269 RGD:10054249 RGD:10054498 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO RGD PMID:15001555 RGD:1625760 NCBI chrNW_004936604:551,774...567,014 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21406003 RGD:6483549 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:22228807 PMID:32083858 RGD:11040701 RGD:151665122 NCBI chrNW_004936813:429,400...467,481
Ensembl chrNW_004936813:429,224...463,441 		JBrowse link
G C3 complement C3 treatment ISO RGD PMID:7347767 PMID:20051658 RGD:11041098 RGD:7411688 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G C5 complement C5 ISO RGD PMID:12355496 PMID:20975959 RGD:1600637 RGD:5130175 NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159 		JBrowse link
G Cabin1 calcineurin binding protein 1 ISO RGD PMID:22275266 RGD:10054391 NCBI chrNW_004936619:890,474...1,030,914
Ensembl chrNW_004936619:890,299...1,030,899 		JBrowse link
G Calca calcitonin related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Cbl Cbl proto-oncogene treatment ISO RGD PMID:16984225 RGD:2306289 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288 		JBrowse link
G Cblb Cbl proto-oncogene B ISO RGD PMID:16984225 RGD:2306289 NCBI chrNW_004936701:1,157,790...1,353,375
Ensembl chrNW_004936701:1,157,797...1,353,388 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA, protein:increased expression:synovium, monocytes RGD PMID:9637726 PMID:17052673 RGD:2307143 RGD:4889940 NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965 		JBrowse link
G Ccn1 cellular communication network factor 1 ameliorates ISO RGD PMID:27653023 RGD:150429754 NCBI chrNW_004936608:152,174...155,123
Ensembl chrNW_004936608:151,838...155,358 		JBrowse link
G Cd28 CD28 molecule ISO RGD PMID:18601859 RGD:2307202 NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407 		JBrowse link
G Cd4 CD4 molecule treatment ISO RGD PMID:12010568 PMID:15479897 RGD:10058957 RGD:10058960 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20435931 RGD:5490544 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:plasma (rat) RGD PMID:7689748 PMID:22611405 PMID:27218142 RGD:11344958 RGD:11352298 RGD:11352696 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Cd44 CD44 molecule (IN blood group) ISO protein:increased expression:joint, macrophage, lymphocyte RGD PMID:8639178 RGD:2289388 NCBI chrNW_004936533:2,949,026...3,033,166 JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21852528 RGD:6483461 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G Cd59 CD59 molecule (CD59 blood group) ISO RGD PMID:14519760 RGD:1600483 NCBI chrNW_004936533:4,242,589...4,263,136 JBrowse link
G Cd80 CD80 molecule ISO RGD PMID:22004797 RGD:6902903 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cdc42 cell division cycle 42 ISO protein:increased activation:bone marrow, macrophage RGD PMID:21266780 RGD:5688271 NCBI chrNW_004936474:7,556,765...7,598,687 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16200597 PMID:21188452 PMID:23326410 PMID:24709313 PMID:25194622 More... NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:19205849 PMID:19330884 RGD:2314686 NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858 		JBrowse link
G Cpox coproporphyrinogen oxidase ISO protein:decreased activity:liver (rat) RGD PMID:9173682 RGD:1600958 NCBI chrNW_004936630:4,412,099...4,424,867
Ensembl chrNW_004936630:4,412,273...4,425,520 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO RGD PMID:17550594 RGD:1626231 NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330884 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Csf1 colony stimulating factor 1 ISO protein:increased expression:dorsal root ganglion RGD PMID:32510872 RGD:127338469 NCBI chrNW_004936704:1,372,137...1,393,355
Ensembl chrNW_004936704:1,378,103...1,393,542 		JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:18434589 RGD:151665814 NCBI chrNW_004936504:4,898,947...4,927,195
Ensembl chrNW_004936504:4,898,945...4,928,923 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:12742377 RGD:11039465 NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487 		JBrowse link
G Csk C-terminal Src kinase ISO RGD PMID:10411542 RGD:5134371 NCBI chrNW_004936471:33,757,778...33,777,871
Ensembl chrNW_004936471:33,757,772...33,778,933 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:7543497 PMID:22354915 RGD:7204500 RGD:7204519 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Ctsk cathepsin K ISO mRNA:increased expression:synovium, bone marrow RGD PMID:15353610 RGD:1601025 NCBI chrNW_004936580:1,022,762...1,038,020
Ensembl chrNW_004936580:1,022,762...1,034,984 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chrNW_004936580:963,176...991,732
Ensembl chrNW_004936580:963,153...991,442 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:11465708 RGD:4892002 NCBI chrNW_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:11465708 PMID:17123734 RGD:4891969 RGD:4892002 NCBI chrNW_004936473:28,508,726...28,535,640
Ensembl chrNW_004936473:28,510,523...28,535,627 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO RGD PMID:24819400 RGD:150519886 NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO RGD PMID:15182735 RGD:2316231 NCBI chrNW_004936475:21,863,627...21,877,660
Ensembl chrNW_004936475:21,862,166...21,877,711 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416 		JBrowse link
G Drd1 dopamine receptor D1 treatment ISO mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 RGD:7248592 NCBI chrNW_004936609:790,647...795,187
Ensembl chrNW_004936609:792,276...793,613 		JBrowse link
G Drd2 dopamine receptor D2 treatment ISO mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 RGD:7248592 NCBI chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798 		JBrowse link
G Edn1 endothelin 1 ISO mRNA:increased expression:inguinal lymph node (mouse) RGD PMID:22249931 RGD:8661695 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:7589090 NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528 		JBrowse link
G Esr1 estrogen receptor 1 treatment ISO associated with Osteoporosis RGD PMID:20112355 RGD:10045851 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:16269464 RGD:5508854 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21436072 RGD:5147764 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G F2r coagulation factor II thrombin receptor severity ISO RGD PMID:19674841 RGD:7387269 NCBI chrNW_004936549:226,508...247,024
Ensembl chrNW_004936549:225,371...247,042 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:12511586 RGD:735010 NCBI chrNW_004936549:142,281...153,575
Ensembl chrNW_004936549:141,512...153,602 		JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:22354915 RGD:7204500 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:dorsal root ganglion		 CTD
RGD		 PMID:12875993 PMID:16670289 PMID:32510872 RGD:127338469 RGD:9685708 NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785 		JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO RGD PMID:23341540 RGD:11344930 NCBI chrNW_004937131:80,014...96,114 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO RGD PMID:18699993 RGD:2314157 NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:19180491 RGD:6483591 NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041 		JBrowse link
G Flt3 fms related receptor tyrosine kinase 3 ISO RGD PMID:10857786 RGD:61066 NCBI chrNW_004936472:23,169,967...23,239,178
Ensembl chrNW_004936472:23,170,470...23,256,904 		JBrowse link
G Foxp3 forkhead box P3 treatment ISO mRNA,protein:decreased expression:lung RGD PMID:23643080 PMID:29264841 RGD:38549364 RGD:38599003 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO RGD PMID:23165424 RGD:7207259 NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G Gli1 GLI family zinc finger 1 treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:23911657 RGD:11051957 NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 disease_progression
treatment		 ISO protein:increased expression:aorta (rat)
protein:altered expression:T cell (rat)		 RGD PMID:28349925 PMID:28631356 PMID:28653218 RGD:13513975 RGD:13513976 RGD:13513979 NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147 		JBrowse link
G Grn granulin precursor ISO RGD PMID:21393509 RGD:5509782 NCBI chrNW_004936541:793,548...800,271
Ensembl chrNW_004936541:793,523...800,217 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16713974 NCBI chrNW_004936536:6,730,070...6,893,818
Ensembl chrNW_004936536:6,730,062...6,894,303 		JBrowse link
G Gusb glucuronidase beta treatment ISO RGD PMID:827200 RGD:42724460 NCBI chrNW_004936543:7,721,273...7,732,468
Ensembl chrNW_004936543:7,721,763...7,731,897 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO mRNA,protein:altered expression:bone: RGD PMID:25264706 RGD:9686117 NCBI chrNW_004936515:6,001,324...6,015,407 JBrowse link
G Hdac6 histone deacetylase 6 treatment ISO RGD PMID:23541634 RGD:9681550 NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21679445 RGD:8693318 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:altered localization:cytoplasm, extracellular matrix RGD PMID:12384917 RGD:728698 NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17119970 RGD:5508468 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:10882416 PMID:15529360 RGD:12910542 RGD:1624244 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7774621 PMID:12412757 PMID:19203382 PMID:22450443 RGD:10755750 RGD:2311498 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:plasma RGD PMID:19246225 RGD:2306697 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO mRNA, protein:increased expression:kidney, serum RGD PMID:14642797 RGD:10402760 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:19652024 PMID:21087862 RGD:7495772 RGD:7495778 NCBI chrNW_004936785:358,128...406,751
Ensembl chrNW_004936785:356,168...406,773 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment ISO RGD PMID:16684367 RGD:12791276 NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
G Il10 interleukin 10 treatment ISO protein:decreased expression:serum:
CTD Direct Evidence: marker/mechanism|therapeutic		 RGD
CTD		 PMID:15270736 PMID:19169271 PMID:19193354 PMID:20974942 PMID:22052031 More... RGD:1626677 RGD:2311059 RGD:7193038 RGD:7364838 RGD:8662976 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il13 interleukin 13 treatment ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:10444273 PMID:11860705 PMID:17665443 RGD:4889497 RGD:8549606 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373 		JBrowse link
G Il15 interleukin 15 ISO RGD PMID:20188418 RGD:5000761 NCBI chrNW_004936535:6,344,348...6,358,803
Ensembl chrNW_004936535:6,344,395...6,350,197 		JBrowse link
G Il17a interleukin 17A treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 RGD
CTD		 PMID:20925596 PMID:20974942 PMID:21194185 PMID:23377547 RGD:4781444 RGD:9068936 RGD:9130803 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Il18 interleukin 18 disease_progression ISO RGD PMID:15147345 PMID:19096963 RGD:4889415 RGD:4889503 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:serum: RGD PMID:19169271 PMID:20379758 RGD:6907373 RGD:8662976 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 RGD
CTD		 PMID:19330884 PMID:20131233 PMID:20974942 PMID:21557995 PMID:22450443 More... RGD:10755447 RGD:13792834 RGD:7175317 RGD:7193038 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rl1 interleukin 1 receptor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chrNW_004936713:1,020,969...1,035,012
Ensembl chrNW_004936713:1,021,044...1,035,039 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human gene in a rat model
mRNA:increased expression:popliteal lymph node (rat)
rat model treated with human protein
mouse model treated with human protein		 RGD PMID:10921508 PMID:12727108 PMID:15270736 PMID:22267332 PMID:23006786 RGD:1626677 RGD:6907376 RGD:8549801 RGD:8551741 RGD:8551745 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il2 interleukin 2 treatment ISO protein:increased expression:serum: RGD PMID:2492102 PMID:19169271 RGD:10047055 RGD:8662976 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il20 interleukin 20 ISO RGD PMID:20722035 RGD:5147393 NCBI chrNW_004936557:5,749,419...5,751,776
Ensembl chrNW_004936557:5,749,419...5,751,776 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO RGD PMID:17928458 RGD:2325988 NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332 		JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470 		JBrowse link
G Il6 interleukin 6 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8607900 PMID:10381487 PMID:20131233 PMID:20974942 PMID:22450443 More... RGD:10755447 RGD:11049551 RGD:11049553 RGD:11060267 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:20626857 RGD:5509945 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO RGD PMID:12969328 RGD:9698440 NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO RGD PMID:8881759 RGD:6482229 NCBI chrNW_004936778:1,286,475...1,311,184
Ensembl chrNW_004936778:1,286,341...1,311,194 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO protein:increased expression:endothelial cell RGD PMID:16869003 RGD:2317300 NCBI chrNW_004936541:2,822,789...2,871,069
Ensembl chrNW_004936541:2,815,738...2,871,035 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:19265135 RGD:6482234 NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315 		JBrowse link
G Jak1 Janus kinase 1 treatment ISO RGD PMID:29452839 RGD:19165139 NCBI chrNW_004936692:2,298,149...2,354,084
Ensembl chrNW_004936692:2,299,504...2,354,132 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:22339472 PMID:22800927 PMID:23711144 RGD:10403066 RGD:10403074 RGD:10403081 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867 		JBrowse link
G Jak3 Janus kinase 3 treatment ISO RGD PMID:18234077 PMID:21434883 PMID:25762693 RGD:11533938 RGD:11533942 RGD:11533944 NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:25131209 RGD:150521609 NCBI chrNW_004936706:940,585...952,484 JBrowse link
G Klkb1 kallikrein B1 ISO RGD PMID:9783057 PMID:22739815 RGD:7297047 RGD:7327138 NCBI chrNW_004936554:3,227,395...3,256,710
Ensembl chrNW_004936554:3,228,735...3,256,710 		JBrowse link
G Kyat1 kynurenine aminotransferase 1 ISO RGD PMID:16984225 RGD:2306289 NCBI chrNW_004936487:16,299,054...16,344,587
Ensembl chrNW_004936487:16,297,991...16,344,745 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15142272 NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334 		JBrowse link
G Lgals3 galectin 3 ISO RGD PMID:16507131 RGD:1625684 NCBI chrNW_004936697:20,861...38,568
Ensembl chrNW_004936697:27,145...38,586 		JBrowse link
G LOC101959212 alpha-2-macroglobulin ISO protein:increased expression:serum RGD PMID:6163339 RGD:10046032 NCBI chrNW_004936870:424,832...468,303
Ensembl chrNW_004936870:424,951...468,167 		JBrowse link
G LOC101960095 antileukoproteinase treatment ISO protein:decreased expression:articular cartilage of joint RGD PMID:9744360 PMID:10449524 RGD:634208 RGD:9999431 NCBI chrNW_004936514:7,618,382...7,620,790
Ensembl chrNW_004936514:7,618,261...7,620,912 		JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO RGD PMID:14674010 PMID:18608173 RGD:1582346 RGD:5688144 NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186 		JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO RGD PMID:20213806 RGD:2325221 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
G LOC101973421 amine oxidase copper containing 3 ISO RGD PMID:16947396 RGD:2313925 NCBI chrNW_004936490:17,549,836...17,564,867 JBrowse link
G LOC101976500 haptoglobin ISO mRNA, protein:increased expression:tendon, ankle
protein:increased expression:serum		 RGD PMID:12801280 PMID:15899029 RGD:1626370 RGD:1626375 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO RGD PMID:16331767 RGD:10412332 NCBI chrNW_004936560:3,988,696...4,197,953
Ensembl chrNW_004936560:3,989,420...4,197,501 		JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:10765927 RGD:1642012 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO RGD PMID:21108488 PMID:21288455 PMID:24011916 RGD:7207362 RGD:7207365 RGD:8549748 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO RGD PMID:11435459 PMID:24244039 RGD:1582329 RGD:8694124 NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cartilage, serum, synovial fluid RGD PMID:17463159 RGD:1642035 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:22391142 RGD:10041007 NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Myd88 MYD88 innate immune signal transduction adaptor ISO RGD PMID:20131263 RGD:8552884 NCBI chrNW_004936473:27,672,237...27,676,339
Ensembl chrNW_004936473:27,671,797...27,676,372 		JBrowse link
G Myod1 myogenic differentiation 1 treatment ISO RGD PMID:23781298 RGD:9686078 NCBI chrNW_004936528:1,407,187...1,409,683
Ensembl chrNW_004936528:1,407,661...1,409,573 		JBrowse link
G Myog myogenin treatment ISO RGD PMID:23781298 RGD:9686078 NCBI chrNW_004936567:1,507,042...1,509,814
Ensembl chrNW_004936567:1,507,042...1,509,815 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 severity ISO DNA:missense mutations:cds:p.M106V, p.M153T (rat) RGD PMID:12461526 RGD:628543 NCBI chrNW_004936543:3,617,369...3,630,990
Ensembl chrNW_004936543:3,617,372...3,630,997 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:20131263 PMID:21424514 RGD:5508728 RGD:8552884 NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:ankle joint (mouse) RGD PMID:12826065 PMID:21880869 RGD:1358527 RGD:5509060 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment ISO RGD PMID:29337196 RGD:13504725 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Npsr1 neuropeptide S receptor 1 treatment ISO RGD PMID:24884567 RGD:9831205 NCBI chrNW_004936478:10,352,894...10,542,949
Ensembl chrNW_004936478:10,352,741...10,544,102 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 severity ISO RGD PMID:16905546 RGD:11073695 NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1 group H member 2 ISO RGD PMID:21859686 RGD:6480864 NCBI chrNW_004936889:223,137...229,968
Ensembl chrNW_004936889:223,101...229,990 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO RGD PMID:21859686 RGD:6480864 NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO RGD PMID:18706093 RGD:2300006 NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590 		JBrowse link
G Nts neurotensin ISO RGD PMID:8518953 RGD:9743903 NCBI chrNW_004936507:3,318,982...3,329,248
Ensembl chrNW_004936507:3,318,915...3,329,342 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:22028806 RGD:6480518 NCBI chrNW_004936758:1,581,828...1,624,332
Ensembl chrNW_004936758:1,581,897...1,592,222 		JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase ISO RGD PMID:17138865 RGD:6483527 NCBI chrNW_004936523:1,492,795...1,786,942
Ensembl chrNW_004936523:1,493,450...1,750,524 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 severity ISO RGD PMID:16356201 RGD:5684009 NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642 		JBrowse link
G Pdyn prodynorphin treatment ISO RGD PMID:25102697 RGD:401851905 NCBI chrNW_004936485:16,559,371...16,571,461
Ensembl chrNW_004936485:16,559,217...16,571,678 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:knee joint, blood vessels (mouse) RGD PMID:14613294 PMID:21982514 PMID:22548760 RGD:6484738 RGD:6771177 RGD:6771222 NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:18412166 RGD:6482696 NCBI chrNW_004936623:3,672,201...3,696,959 JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:18412166 PMID:20374644 RGD:6482684 RGD:6482696 NCBI chrNW_004936479:17,084,006...17,112,264
Ensembl chrNW_004936479:17,084,920...17,112,258 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:20973954 RGD:6483801 NCBI chrNW_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877 		JBrowse link
G Pomc proopiomelanocortin treatment ISO RGD PMID:25102697 RGD:401851905 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: therapeutic CTD PMID:36181686 NCBI chrNW_004936564:2,594,362...2,690,680
Ensembl chrNW_004936564:2,667,660...2,690,683 		JBrowse link
G Ptch1 patched 1 treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Ptger4 prostaglandin E receptor 4 disease_progression
treatment		 ISO mRNA:increased expression:tarsal joint, synovium (rat)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11207665 PMID:18287210 PMID:20423341 RGD:10003041 RGD:10003052 RGD:10043377 NCBI chrNW_004936518:1,903,636...1,916,746
Ensembl chrNW_004936518:1,903,725...1,916,746 		JBrowse link
G Ptges prostaglandin E synthase ISO mRNA, protein:increased expression:paw RGD PMID:12707354 RGD:2300108 NCBI chrNW_004936487:16,959,263...16,968,909
Ensembl chrNW_004936487:16,959,231...16,968,922 		JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO mRNA:increased expression:paw (rat) RGD PMID:12707354 RGD:2300108 NCBI chrNW_004936646:969,674...990,532 JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:increased expression:synovium RGD PMID:22289897 RGD:5687744 NCBI chrNW_004936487:10,745,465...10,758,812
Ensembl chrNW_004936487:10,745,327...10,758,823 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:autopod joint
mRNA, protein:increased expression:synovium		 RGD PMID:18758904 PMID:21765105 PMID:22289897 RGD:2300221 RGD:5508310 RGD:5687744 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) RGD PMID:24998229 RGD:11532752 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20974942 NCBI chrNW_004936533:1,801,207...1,807,431
Ensembl chrNW_004936533:1,801,391...1,807,431 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO RGD PMID:8343166 RGD:633930 NCBI chrNW_004936580:3,256,399...3,256,913
Ensembl chrNW_004936580:3,256,417...3,256,913 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO RGD PMID:8343166 RGD:633930 NCBI chrNW_004936580:3,228,097...3,230,652
Ensembl chrNW_004936580:3,228,092...3,230,676 		JBrowse link
G Serpinc1 serpin family C member 1 ISO protein:decreased expression:plasma RGD PMID:22781611 RGD:11035273 NCBI chrNW_004936481:13,981,014...13,993,750
Ensembl chrNW_004936481:13,981,019...13,993,634 		JBrowse link
G Sfrp4 secreted frizzled related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chrNW_004936478:13,257,183...13,266,972
Ensembl chrNW_004936478:13,257,801...13,266,701 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 severity ISO RGD PMID:17122779 RGD:5684943 NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:mononuclear cell RGD PMID:16507131 RGD:1625684 NCBI chrNW_004936594:2,932,297...2,935,358
Ensembl chrNW_004936594:2,933,747...2,934,451 		JBrowse link
G Spn sialophorin ISO associated with Staphylococcal Infections RGD PMID:7927732 RGD:2303983 NCBI chrNW_004936501:12,773,967...12,776,642 JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased tyrosine phosphorylation:macrophage, synovial cell
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:14674010 PMID:15188379 RGD:1582346 NCBI chrNW_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15188379 PMID:21937456 PMID:23711144 RGD:10403081 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Tac1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9259450 NCBI chrNW_004936585:2,932,783...2,941,141
Ensembl chrNW_004936585:2,932,727...2,941,384 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO RGD PMID:29763498 RGD:15036801 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO protein:increased expression:synovium RGD PMID:9010265 RGD:1601623 NCBI chrNW_004936473:21,324,669...21,409,430
Ensembl chrNW_004936473:21,324,658...21,409,430 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:16879225 RGD:5685015 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:12483743 RGD:2290463 NCBI chrNW_004936602:1,488,993...1,496,108
Ensembl chrNW_004936602:1,489,545...1,495,478 		JBrowse link
G Tjp1 tight junction protein 1 ISO RGD PMID:18848892 RGD:2325138 NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946 		JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:20131263 PMID:21725847 RGD:7241099 RGD:8552884 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tlr3 toll like receptor 3 ISO RGD PMID:20500834 RGD:5128706 NCBI chrNW_004936554:3,370,766...3,388,125
Ensembl chrNW_004936554:3,369,469...3,385,907 		JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD
RGD		 PMID:7589090 PMID:9598899 PMID:19169271 PMID:19203382 PMID:19330884 More... RGD:10450611 RGD:10755447 RGD:13792834 RGD:7193038 RGD:7245941 RGD:8661761 RGD:8662976 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b treatment ISO CTD Direct Evidence: therapeutic
Sinomenine CHEBI:9163
mRNA:decreased expression:bone		 CTD
RGD		 PMID:16696922 PMID:23333834 PMID:24066131 RGD:1624171 RGD:42721982 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO RGD PMID:20370892 PMID:21690068 PMID:23052485 RGD:7245941 RGD:8661729 RGD:8661761 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO human protein in rat model RGD PMID:21463515 PMID:21690068 PMID:23052485 RGD:5131255 RGD:7245941 RGD:8661761 NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177 		JBrowse link
G Trpv2 transient receptor potential cation channel subfamily V member 2 treatment ISO RGD PMID:25869297 RGD:9999444 NCBI chrNW_004936821:198,622...225,575
Ensembl chrNW_004936821:198,098...226,025 		JBrowse link
G Txndc5 thioredoxin domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chrNW_004936534:4,679,636...4,706,682
Ensembl chrNW_004936534:4,679,631...4,706,309 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9598899 PMID:26221077 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Vim vimentin ISO RGD PMID:7516431 RGD:6480480 NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:19055696 PMID:21998117 RGD:5685376 RGD:5685612 NCBI chrNW_004936489:5,425,778...5,434,483
Ensembl chrNW_004936489:5,425,726...5,434,785 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased expression:brain, mitochondrion RGD PMID:25870945 RGD:13208957 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO mRNA:decreased expression:articular cartilage RGD PMID:19001053 RGD:2313142 NCBI chrNW_004936501:4,164,714...4,337,604
Ensembl chrNW_004936501:4,187,213...4,331,783 		JBrowse link
fetal akinesia deformation sequence syndrome 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 deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chrNW_004936559:2,387,019...2,486,685
Ensembl chrNW_004936559:2,387,027...2,486,552 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936481:4,111,417...4,128,411 JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:11791205 PMID:12651869 PMID:15145336 PMID:15282317 More... NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		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 Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,952,581...1,960,327
Ensembl chrNW_004936562:1,952,536...1,960,327 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chrNW_004936621:655,004...667,608
Ensembl chrNW_004936621:655,008...664,762 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family member A1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936671:843,577...865,798
Ensembl chrNW_004936671:843,577...865,881 		JBrowse link
G Arfgap2 ADP ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,996,000...2,005,850
Ensembl chrNW_004936562:1,996,000...2,006,554 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chrNW_004936554:104,666...141,761
Ensembl chrNW_004936554:104,229...141,512 		JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 NCBI chrNW_004936521:6,695,366...6,791,480
Ensembl chrNW_004936521:6,696,120...6,791,873 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936673:2,434,984...2,568,868
Ensembl chrNW_004936673:2,435,308...2,565,180 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936662:1,329,646...1,526,610
Ensembl chrNW_004936662:1,330,446...1,526,633 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936490:17,412,837...17,430,123
Ensembl chrNW_004936490:17,412,878...17,429,041 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:2,005,835...2,199,527
Ensembl chrNW_004936562:2,005,626...2,199,691 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,960,406...1,974,809
Ensembl chrNW_004936562:1,960,406...1,974,867 		JBrowse link
G Dqx1 DEAQ-box RNA dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936556:731,169...738,870
Ensembl chrNW_004936556:730,716...738,562 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004936501:8,190,466...8,209,320
Ensembl chrNW_004936501:8,188,071...8,209,386 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chrNW_004936524:5,580,855...5,586,170
Ensembl chrNW_004936524:5,581,090...5,586,128 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936629:4,170,186...4,242,100
Ensembl chrNW_004936629:4,170,817...4,242,103 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936668:718,961...786,101
Ensembl chrNW_004936668:724,031...785,533 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936485:15,135,245...15,139,639
Ensembl chrNW_004936485:15,135,245...15,139,000 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936606:271,217...388,505
Ensembl chrNW_004936606:271,291...374,940 		JBrowse link
G Lgi4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936570:1,122,987...1,131,270
Ensembl chrNW_004936570:1,123,298...1,132,011 		JBrowse link
G LOC101956962 thioredoxin domain-containing protein 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chrNW_004936559:2,753,167...2,765,110 JBrowse link
G LOC101958945 1,4-alpha-glucan-branching enzyme ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004936505:2,077,206...2,242,079
Ensembl chrNW_004936505:1,974,264...2,241,427 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:2,211,519...2,262,899
Ensembl chrNW_004936562:2,211,514...2,263,937 		JBrowse link
G Madd MAP kinase activating death domain ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,891,120...1,936,559
Ensembl chrNW_004936562:1,892,033...1,932,418 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I OMIM
ClinVar		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chrNW_004936559:2,387,019...2,486,685
Ensembl chrNW_004936559:2,387,027...2,486,552 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936718:31,946...55,822
Ensembl chrNW_004936718:37,135...48,893 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 More... NCBI chrNW_004936538:3,394,623...3,596,025
Ensembl chrNW_004936538:3,398,222...3,595,261 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1 group H member 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,937,665...1,946,680
Ensembl chrNW_004936562:1,937,667...1,946,669 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,988,839...1,995,597
Ensembl chrNW_004936562:1,989,662...1,995,580 		JBrowse link
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936481:4,111,417...4,128,411 JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936512:1,165,159...1,270,138
Ensembl chrNW_004936512:1,163,615...1,270,255 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,810,883...1,817,040
Ensembl chrNW_004936562:1,810,864...1,823,077 		JBrowse link
G Rapsn receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I | ClinVar Annotator: match by term: RAPSN-Related Disorders		 ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004936796:630,307...675,157
Ensembl chrNW_004936796:630,756...674,279 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936673:2,078,095...2,434,872
Ensembl chrNW_004936673:1,932,755...2,434,066 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936541:4,541,061...4,570,212
Ensembl chrNW_004936541:4,543,102...4,569,862 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,811,479...1,825,857
Ensembl chrNW_004936562:1,816,049...1,825,892 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936586:3,264,953...3,407,823 JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chrNW_004936562:1,852,759...1,870,647
Ensembl chrNW_004936562:1,852,740...1,870,472 		JBrowse link
G Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chrNW_004936559:2,556,207...2,726,670
Ensembl chrNW_004936559:2,556,207...2,726,635 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060 		JBrowse link
G Txn thioredoxin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chrNW_004936559:2,811,786...2,822,528
Ensembl chrNW_004936559:2,811,782...2,822,528 		JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936744:1,701,988...1,710,007
Ensembl chrNW_004936744:1,701,632...1,709,826 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chrNW_004936474:955,081...1,194,200
Ensembl chrNW_004936474:955,040...1,195,859 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267 		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:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chrNW_004936562:1,796,087...1,804,153
Ensembl chrNW_004936562:1,795,905...1,804,181 		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 Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chrNW_004936692:161,979...354,028
Ensembl chrNW_004936692:162,390...353,721 		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:25741868 PMID:30543681 NCBI chrNW_004936677:2,385,289...2,417,398
Ensembl chrNW_004936677:2,385,289...2,421,783 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chrNW_004936677:2,417,676...2,481,587
Ensembl chrNW_004936677:2,417,679...2,512,868 		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: BORRONE DERMATOCARDIOSKELETAL SYNDROME | ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay OMIM
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chrNW_004936609:2,934,814...2,975,111
Ensembl chrNW_004936609:2,926,771...2,978,914 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101974020 myosin-3 ISO ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 More... NCBI chrNW_004936595:3,484,323...3,507,227
Ensembl chrNW_004936595:3,484,330...3,507,191 		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:28252667 PMID:28679452 RGD:13831119 RGD:13831120 NCBI chrNW_004936735:2,130,943...2,177,815 JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chrNW_004936710:1,410,589...1,413,279
Ensembl chrNW_004936710:1,411,446...1,413,098 		JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chrNW_004936664:3,326,527...3,339,009
Ensembl chrNW_004936664:3,326,570...3,339,683 		JBrowse link
G Alpk1 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chrNW_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257 		JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Gout ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chrNW_004936481:14,029,478...14,052,724
Ensembl chrNW_004936481:14,027,772...14,052,806 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470 		JBrowse link
G LOC101976500 haptoglobin ISO RGD PMID:7281841 RGD:1626362 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chrNW_004936477:16,700,915...16,836,424
Ensembl chrNW_004936477:16,717,002...16,834,663 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238 		JBrowse link
Gouty Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		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 chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		JBrowse link
hemarthrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII treatment ISO RGD PMID:31899798 RGD:150520060 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G Il6 interleukin 6 treatment ISO associated with Hemophilia A RGD PMID:23413986 RGD:11060150 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
Hemophilic Arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII treatment ISO RGD PMID:27060449 RGD:150520059 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		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 term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 | ClinVar Annotator: match by term: Calcification of joints and arteries | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome OMIM
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chrNW_004936510:5,797,218...5,846,118
Ensembl chrNW_004936510:5,797,212...5,846,124 		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 chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		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 chrNW_004936567:3,269,283...3,331,858
Ensembl chrNW_004936567:3,269,355...3,331,460 		JBrowse link
G Cdrt4 CMT1A duplicated region transcript 4 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chrNW_004936724:1,943,391...1,965,105 JBrowse link
G Fbxw10b F-box and WD repeat domain containing 10B ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chrNW_004936724:2,054,137...2,090,830 JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chrNW_004936724:946,329...987,798
Ensembl chrNW_004936724:946,218...987,806 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:16288874 NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101967907 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chrNW_004936724:783,591...905,625
Ensembl chrNW_004936724:783,224...905,710 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy OMIM
ClinVar		 PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 More... NCBI chrNW_004936724:1,747,015...1,780,298
Ensembl chrNW_004936724:1,747,005...1,778,141 		JBrowse link
G Tekt3 tektin 3 ISO ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chrNW_004936724:1,815,562...1,843,643
Ensembl chrNW_004936724:1,815,562...1,843,643 		JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant OMIM
ClinVar		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739 		JBrowse link
Hip Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hip contracture ClinVar PMID:17561957 PMID:30311386 NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chrNW_004936521:7,417,914...7,452,695
Ensembl chrNW_004936521:7,418,184...7,452,695 		JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chrNW_004936664:3,326,527...3,339,009
Ensembl chrNW_004936664:3,326,570...3,339,683 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chrNW_004936691:863,903...875,565 JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chrNW_004936691:1,060,013...1,459,736
Ensembl chrNW_004936691:1,059,994...1,459,740 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM
ClinVar		 PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chrNW_004936691:650,753...694,362
Ensembl chrNW_004936691:652,769...694,463 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chrNW_004936691:716,723...767,960
Ensembl chrNW_004936691:716,697...768,016 		JBrowse link
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 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: Intellectual disability with episodic ataxia and congenital arthrogryposis ClinVar PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:28454995 More... NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101976824 nuclear factor of activated T cells 2 ISO OMIM NCBI chrNW_004936514:3,453,475...3,579,292
Ensembl chrNW_004936514:3,467,178...3,578,882 		JBrowse link
Joint Instability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Joint laxity ClinVar NCBI chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chrNW_004936471:3,930,167...3,932,356
Ensembl chrNW_004936471:3,930,388...3,931,518 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 More... NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chrNW_004936669:2,474,381...2,613,541
Ensembl chrNW_004936669:2,476,818...2,580,891 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:9887340 NCBI chrNW_004936596:2,544,389...2,551,155
Ensembl chrNW_004936596:2,544,389...2,551,164 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chrNW_004936478:6,296,598...6,310,405
Ensembl chrNW_004936478:6,294,183...6,310,445 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:26392352 PMID:28492532 NCBI chrNW_004936623:4,091,093...4,222,510
Ensembl chrNW_004936623:4,091,190...4,218,251 		JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chrNW_004936474:740,582...763,294
Ensembl chrNW_004936474:746,922...765,585 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:10,381,646...10,396,638
Ensembl chrNW_004936474:10,381,743...10,394,502 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 NCBI chrNW_004936641:1,193,085...1,205,283 JBrowse link
JOINT LAXITY, SHORT STATURE, AND MYOPIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gzf1 GDNF inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia OMIM
ClinVar		 PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841 NCBI chrNW_004936620:2,208,185...2,223,651
Ensembl chrNW_004936620:2,208,224...2,218,539 		JBrowse link
juvenile rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp3 acid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936529:5,661,772...5,723,108
Ensembl chrNW_004936529:5,661,702...5,725,363 		JBrowse link
G Acrbp acrosin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936709:1,148,454...1,158,069 JBrowse link
G Adcy7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936475:3,368,069...3,393,306
Ensembl chrNW_004936475:3,340,800...3,394,698 		JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936835:608,461...613,157
Ensembl chrNW_004936835:611,156...612,918 		JBrowse link
G Aopep aminopeptidase O (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936626:3,704,474...3,973,913
Ensembl chrNW_004936626:3,667,123...3,970,433 		JBrowse link
G Aqp9 aquaporin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936471:19,321,366...19,361,227
Ensembl chrNW_004936471:19,321,426...19,362,146 		JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936598:1,276,599...1,283,612
Ensembl chrNW_004936598:1,274,565...1,283,746 		JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936470:18,340,120...18,640,396
Ensembl chrNW_004936470:18,339,616...18,640,624 		JBrowse link
G Avl9 AVL9 cell migration associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936478:8,545,240...8,606,875
Ensembl chrNW_004936478:8,553,581...8,606,774 		JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936514:4,719,198...4,736,638
Ensembl chrNW_004936514:4,719,052...4,736,635 		JBrowse link
G Bend2 BEN domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936470:7,379,946...7,441,955 JBrowse link
G Bltp3b bridge-like lipid transfer protein family member 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936492:13,622,582...13,703,033
Ensembl chrNW_004936492:13,622,598...13,703,033 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936507:8,789,952...8,797,247 JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936505:10,032,333...10,046,008
Ensembl chrNW_004936505:10,032,237...10,046,047 		JBrowse link
G C8b complement C8 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:7980680 NCBI chrNW_004936522:4,638,111...4,673,388
Ensembl chrNW_004936522:4,644,047...4,673,615 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936611:2,074,655...2,101,846
Ensembl chrNW_004936611:2,078,716...2,101,881 		JBrowse link
G Cald1 caldesmon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936579:868,681...1,046,198
Ensembl chrNW_004936579:868,500...1,046,257 		JBrowse link
G Camsap1 calmodulin regulated spectrin associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936669:1,785,229...1,831,876
Ensembl chrNW_004936669:1,770,870...1,831,930 		JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936531:9,572,392...9,575,771
Ensembl chrNW_004936531:9,571,796...9,575,923 		JBrowse link
G Cd83 CD83 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936552:637,471...654,422
Ensembl chrNW_004936552:637,043...656,452 		JBrowse link
G Cd8b CD8 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936712:828,073...841,889 JBrowse link
G Ciita class II major histocompatibility complex transactivator no_association
susceptibility		 ISO DNA:polymorphism:promoter:rs3087456, no association in a German cohort
DNA:polymorphism:exon:1614G>C (human)		 RGD PMID:16426246 PMID:17661914 RGD:5491187 RGD:5491189 NCBI chrNW_004936530:9,033,510...9,073,341 JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836 		JBrowse link
G Cmtm2 CKLF like MARVEL transmembrane domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936475:16,916,568...16,921,196 JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936574:3,478,969...3,546,738
Ensembl chrNW_004936574:3,479,060...3,548,951 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum RGD PMID:22885951 RGD:6906884 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Cttn cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936599:481,234...503,857
Ensembl chrNW_004936599:481,243...501,743 		JBrowse link
G CUNH2orf88 chromosome unknown C2orf88 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936506:7,883,823...7,903,949 JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 PMID:26387944 NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058 		JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936646:1,665,019...1,669,212 JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408 		JBrowse link
G Dusp2 dual specificity phosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936744:271,619...273,272
Ensembl chrNW_004936744:271,469...273,326 		JBrowse link
G Dusp4 dual specificity phosphatase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936573:765,954...778,524
Ensembl chrNW_004936573:765,927...781,567 		JBrowse link
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936491:15,412,606...15,618,519
Ensembl chrNW_004936491:15,413,206...15,618,519 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749 		JBrowse link
G Elf2 E74 like ETS transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936535:8,426,550...8,496,129
Ensembl chrNW_004936535:8,426,532...8,496,413 		JBrowse link
G Etnk1 ethanolamine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936548:4,340,632...4,405,880
Ensembl chrNW_004936548:4,345,021...4,405,879 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936587:5,328,467...5,457,260
Ensembl chrNW_004936587:5,330,665...5,457,264 		JBrowse link
G Fam20a FAM20A golgi associated secretory pathway pseudokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936541:7,867,856...7,916,145
Ensembl chrNW_004936541:7,867,303...7,916,154 		JBrowse link
G Faxdc2 fatty acid hydroxylase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936515:8,004,569...8,038,794
Ensembl chrNW_004936515:8,004,546...8,039,654 		JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785 		JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936498:2,089,069...2,344,007
Ensembl chrNW_004936498:2,086,282...2,344,708 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936488:4,384,710...4,388,118
Ensembl chrNW_004936488:4,384,705...4,388,122 		JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936706:1,900,954...1,907,567
Ensembl chrNW_004936706:1,900,931...1,906,772 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936493:4,308,683...4,327,102
Ensembl chrNW_004936493:4,304,395...4,327,179 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324 		JBrowse link
G Gadd45a growth arrest and DNA damage inducible alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936591:3,998,359...4,001,491
Ensembl chrNW_004936591:3,998,340...4,001,830 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936552:2,458,728...2,496,145
Ensembl chrNW_004936552:2,458,698...2,497,191 		JBrowse link
G Gng11 G protein subunit gamma 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936803:57,659...62,005
Ensembl chrNW_004936803:57,151...62,047 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936619:3,627,649...3,629,129
Ensembl chrNW_004936619:3,627,999...3,628,859 		JBrowse link
G Hbegf heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936531:9,332,939...9,345,039
Ensembl chrNW_004936531:9,332,898...9,345,067 		JBrowse link
G Herpud2 HERPUD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936478:11,294,193...11,335,241
Ensembl chrNW_004936478:11,293,134...11,335,241 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:16047841 RGD:8694357 NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580 		JBrowse link
G Hspa6 heat shock protein family A (Hsp70) member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004937131:25,603...28,458
Ensembl chrNW_004937131:25,551...28,457 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum,synovial fluid: RGD PMID:8255671 RGD:12910480 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:mononuclear cell RGD PMID:21859687 RGD:5147870 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:9489833 RGD:7829742 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936541:813,815...828,826
Ensembl chrNW_004936541:814,171...828,291 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936725:417,824...530,993
Ensembl chrNW_004936725:417,433...532,760 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936753:1,413,935...1,645,974
Ensembl chrNW_004936753:1,414,240...1,645,161 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Kcnj15 potassium inwardly rectifying channel subfamily J member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936500:4,685,832...4,690,338
Ensembl chrNW_004936500:4,684,954...4,728,111 		JBrowse link
G Klf4 KLF transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936559:5,105,456...5,109,970
Ensembl chrNW_004936559:5,105,463...5,109,970 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		JBrowse link
G LOC101963096 coiled-coil domain-containing protein 122 ISO ClinVar Annotator: match by term: JUVENILE ARTHRITIS ClinVar PMID:25741868 NCBI chrNW_004936747:106,703...145,491 JBrowse link
G Lpp LIM domain containing preferred translocation partner in lipoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936578:1,362,041...2,009,031
Ensembl chrNW_004936578:1,370,757...1,945,623 		JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936754:1,842,588...1,957,116 JBrowse link
G Maff MAF bZIP transcription factor F ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936492:2,983,322...2,988,900
Ensembl chrNW_004936492:2,986,813...2,987,836 		JBrowse link
G Maml2 mastermind like transcriptional coactivator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936700:1,642,203...1,743,573 JBrowse link
G Map2 microtubule associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936845:475,406...752,600
Ensembl chrNW_004936845:473,366...545,135 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936619:1,889,841...1,932,646
Ensembl chrNW_004936619:1,889,708...1,932,646 		JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936497:12,178,350...12,201,795
Ensembl chrNW_004936497:12,178,344...12,201,797 		JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936581:2,550,229...2,572,638 JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936635:2,390,390...2,461,870
Ensembl chrNW_004936635:2,389,823...2,461,930 		JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936470:22,963,498...23,117,923
Ensembl chrNW_004936470:22,963,496...23,117,226 		JBrowse link
G Myzap myocardial zonula adherens protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936471:18,853,797...18,940,362
Ensembl chrNW_004936471:18,853,923...18,939,507 		JBrowse link
G Ndel1 nudE neurodevelopment protein 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936595:1,656,956...1,692,775
Ensembl chrNW_004936595:1,656,956...1,689,322 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936469:21,912,118...21,920,486
Ensembl chrNW_004936469:21,912,047...21,920,486 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936524:8,252,321...8,290,747
Ensembl chrNW_004936524:8,252,381...8,289,157 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972 		JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936902:405,536...416,393
Ensembl chrNW_004936902:409,704...416,401 		JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936904:390,089...394,195 JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936718:739,133...850,775
Ensembl chrNW_004936718:739,133...801,662 		JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936624:31,678...125,318
Ensembl chrNW_004936624:58,792...125,338 		JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936595:1,366,883...1,382,138
Ensembl chrNW_004936595:1,366,875...1,382,170 		JBrowse link
G Pgm5 phosphoglucomutase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936503:4,696,473...4,858,561
Ensembl chrNW_004936503:4,696,467...4,858,561 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936706:840,968...855,552 JBrowse link
G Plk2 polo like kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936480:9,680,461...9,686,593
Ensembl chrNW_004936480:9,680,449...9,686,595 		JBrowse link
G Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936519:9,053,192...9,139,221
Ensembl chrNW_004936519:9,053,033...9,140,059 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp : cds : rs2476601 RGD PMID:15934099 RGD:6484550 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936646:1,447,704...1,571,363
Ensembl chrNW_004936646:1,448,362...1,494,637 		JBrowse link
G Rasgef1b RasGEF domain family member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936749:177,737...723,269
Ensembl chrNW_004936749:176,935...723,895 		JBrowse link
G Rbm47 RNA binding motif protein 47 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936482:7,852,346...8,016,612
Ensembl chrNW_004936482:7,852,327...8,016,819 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936623:2,678,627...2,942,387
Ensembl chrNW_004936623:2,678,638...2,942,216 		JBrowse link
G Rhobtb1 Rho related BTB domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936614:2,101,175...2,230,441
Ensembl chrNW_004936614:2,103,101...2,230,444 		JBrowse link
G Rnf103 ring finger protein 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936712:977,650...997,623
Ensembl chrNW_004936712:977,644...999,051 		JBrowse link
G Selp selectin P severity ISO protein:increased expression:plasma RGD PMID:21124648 RGD:6219006 NCBI chrNW_004936481:17,076,660...17,112,501
Ensembl chrNW_004936481:17,076,536...17,107,963 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO DNA:polymorphism:promoter RGD PMID:15129233 RGD:2298870 NCBI chrNW_004936580:5,959,971...5,967,250
Ensembl chrNW_004936580:5,961,000...5,966,677 		JBrowse link
G Sik1 salt inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936500:774,749...784,326
Ensembl chrNW_004936500:774,092...784,330 		JBrowse link
G Sipa1l1 signal induced proliferation associated 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936488:819,503...1,175,043
Ensembl chrNW_004936488:860,129...1,175,051 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10857800 PMID:16597321 RGD:5684977 NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
G Slc22a16 solute carrier family 22 member 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936564:6,311,934...6,352,759 JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:SNPs: : RGD PMID:17393463 RGD:13208931 NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793 		JBrowse link
G Stab1 stabilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936473:3,333,988...3,363,256
Ensembl chrNW_004936473:3,334,032...3,363,117 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936498:849,775...1,063,552
Ensembl chrNW_004936498:849,739...1,063,552 		JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936486:3,473,877...3,660,565
Ensembl chrNW_004936486:3,473,843...3,660,576 		JBrowse link
G Tfdp1 transcription factor Dp-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936472:184,808...214,628
Ensembl chrNW_004936472:184,786...214,630 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936506:10,103,120...10,172,800
Ensembl chrNW_004936506:10,103,139...10,171,863 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:15209962 RGD:5685023 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936471:3,064,466...3,081,125
Ensembl chrNW_004936471:3,064,422...3,081,949 		JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936469:26,129,339...26,145,464
Ensembl chrNW_004936469:26,129,331...26,145,422 		JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936715:2,205,977...2,322,835
Ensembl chrNW_004936715:2,205,977...2,322,854 		JBrowse link
G Tnik TRAF2 and NCK interacting kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936593:1,166,995...1,546,253
Ensembl chrNW_004936593:1,167,395...1,540,399 		JBrowse link
G Treml1 triggering receptor expressed on myeloid cells like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936476:18,668,809...18,673,183
Ensembl chrNW_004936476:18,668,816...18,673,222 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318 		JBrowse link
G Ube2e1 ubiquitin conjugating enzyme E2 E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936473:15,487,341...15,557,516
Ensembl chrNW_004936473:15,487,014...15,557,513 		JBrowse link
G Ube3c ubiquitin protein ligase E3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936797:452,597...529,631 JBrowse link
G Wasf3 WASP family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936948:345,942...465,323
Ensembl chrNW_004936948:345,899...465,930 		JBrowse link
G Wwox WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936475:26,342,245...27,209,563
Ensembl chrNW_004936475:26,342,220...27,208,711 		JBrowse link
G Zfand3 zinc finger AN1-type containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936476:21,365,287...21,591,031
Ensembl chrNW_004936476:21,365,190...21,591,090 		JBrowse link
G Zfc3h1 zinc finger C3H1-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chrNW_004936568:681,802...730,918
Ensembl chrNW_004936568:681,724...730,870 		JBrowse link
Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome ClinVar PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chrNW_004936484:17,012,403...17,049,519
Ensembl chrNW_004936484:17,012,537...17,049,511 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 OMIM
ClinVar		 PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744 		JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome OMIM
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chrNW_004936581:3,482,649...3,488,331
Ensembl chrNW_004936581:3,480,412...3,490,195 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744 		JBrowse link
Knee Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa2 annexin A2 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chrNW_004936471:21,274,112...21,329,286
Ensembl chrNW_004936471:21,274,027...21,329,503 		JBrowse link
G Anxa5 annexin A5 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chrNW_004936662:926,302...959,964
Ensembl chrNW_004936662:925,940...939,451 		JBrowse link
G Ar androgen receptor ISO DNA:repeat:exon:c.172(CAG)8-34 (human) RGD PMID:16098017 RGD:10043199 NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Aspn asporin severity ISO DNA:repeats:exon:
mRNA:increased expression:cartilage:		 RGD PMID:15640800 RGD:9684965 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499 		JBrowse link
G B2m beta-2-microglobulin ISO protein:increased expression:serum RGD PMID:18795399 RGD:6482710 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:20131282 RGD:6907382 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:20131282 RGD:6907382 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO RGD PMID:21387139 PMID:22294259 RGD:6483563 RGD:6483595 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) disease_progression ISO RGD PMID:19342682 PMID:21765106 RGD:6893494 RGD:6893565 NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:cartilage: RGD PMID:22702043 RGD:10395278 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO RGD PMID:31258642 RGD:150519887 NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 severity ISO mRNA,protein:increased expression:fat pad: RGD PMID:21765106 RGD:6893494 NCBI chrNW_004936498:4,514,212...4,544,523
Ensembl chrNW_004936498:4,514,184...4,544,527 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO RGD PMID:20131282 RGD:6907382 NCBI chrNW_004936787:307,290...309,963
Ensembl chrNW_004936787:306,941...310,166 		JBrowse link
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 ISO RGD PMID:25435813 RGD:13506963 NCBI chrNW_004936859:740,620...744,534
Ensembl chrNW_004936859:740,615...744,262 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:serum: RGD PMID:22275171 RGD:10401792 NCBI chrNW_004936491:2,159,654...2,214,480
Ensembl chrNW_004936491:2,159,096...2,214,677 		JBrowse link
G Epas1 endothelial PAS domain protein 1 no_association ISO DNA:SNP:5' utr: (rs17039192) (human) RGD PMID:20495570 PMID:22247019 RGD:10395367 RGD:10395368 NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:25422652 RGD:10400892 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:polymorphisms, haplotype:intron, exon
DNA:SNPs:intron: (rs2234693, rs9340799) (human)
DNA:repeat:promoter:-1174(TA)9-25 (human)
DNA:SNP:cds:c.1782G>A (rs2228480) (human)		 RGD PMID:15380041 PMID:16098017 PMID:20128071 PMID:24772413 RGD:10043199 RGD:10045829 RGD:10045835 RGD:10045840 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:repeat:intron:c.1092+3607(CA)13-27 (human) RGD PMID:16098017 RGD:10043199 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21041276 RGD:5147774 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 treatment ISO RGD PMID:27159076 RGD:11568056 NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased expression:synovial fluid RGD PMID:16289733 RGD:10401830 NCBI chrNW_004936792:531,076...579,083
Ensembl chrNW_004936792:531,756...579,166 		JBrowse link
G Hmgb1 high mobility group box 1 severity ISO protein:increased expression:synovial fluid
mRNA:decreased expression:articular cartilage		 RGD PMID:19139395 PMID:21968272 RGD:10402061 RGD:10402184 NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580 		JBrowse link
G Hmgb2 high mobility group box 2 severity ISO mRNA:decreased expression:articular cartilage RGD PMID:19139395 RGD:10402184 NCBI chrNW_004936516:4,536,664...4,539,331
Ensembl chrNW_004936516:4,534,306...4,539,387 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:decreased expression:blood (human)
mRNA:increased expression:tibial plateaux (mouse)		 RGD PMID:9497939 PMID:16139532 RGD:10412655 RGD:10429075 NCBI chrNW_004936835:316,767...321,999
Ensembl chrNW_004936835:316,767...321,990 		JBrowse link
G Igf1 insulin like growth factor 1 disease_progression
severity		 ISO mRNA:increased expression:meniscus:
protein:decreased expression:plasma (rat)		 RGD PMID:8461919 PMID:9497937 PMID:17133593 PMID:20633672 RGD:10003130 RGD:10045862 RGD:10045868 RGD:10046057 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO RGD PMID:8948288 RGD:10045874 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:cartilage cell: RGD PMID:9034998 PMID:9497937 PMID:24534736 RGD:10045944 RGD:10045946 RGD:10046057 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il2 interleukin 2 severity ISO protein:increased expression:synovial fluid: RGD PMID:22035391 RGD:5687147 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Kl klotho susceptibility ISO DNA:SNPs:promoter,exon:395G>A,2998C>T(human) RGD PMID:18465812 RGD:10403041 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:23575542 RGD:10411887 NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334 		JBrowse link
G Lepr leptin receptor susceptibility ISO protein:increased expression:serum
DNA:SNP:CDS:668A>G (human)		 RGD PMID:23575542 RGD:10411887 NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444 		JBrowse link
G LOC101954950 aromatase ISO DNA:SNP:intron, 5' utr: (rs1062033) (human) RGD PMID:20417295 RGD:10045662 NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 susceptibility ISO DNA:snp:promoter:g.-2820G>A (rs10980705) (human) RGD PMID:18325907 RGD:10054291 NCBI chrNW_004936559:2,187,791...2,331,587
Ensembl chrNW_004936559:2,259,420...2,332,806 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936493:253,390...640,140
Ensembl chrNW_004936493:253,216...640,140 		JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment ISO RGD PMID:21167838 RGD:8549737 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ameliorates ISO RGD PMID:31258642 RGD:150519887 NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384 		JBrowse link
G Penk proenkephalin treatment ISO RGD PMID:21928671 RGD:10003115 NCBI chrNW_004936496:3,016,247...3,021,726
Ensembl chrNW_004936496:3,016,218...3,021,738 		JBrowse link
G Ptges prostaglandin E synthase ISO RGD PMID:17530714 RGD:2300093 NCBI chrNW_004936487:16,959,263...16,968,909
Ensembl chrNW_004936487:16,959,231...16,968,922 		JBrowse link
G Sbno1 strawberry notch homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936558:1,383,652...1,442,298
Ensembl chrNW_004936558:1,393,799...1,442,298 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:deletion:promoter:-716_-713del4A(human) RGD PMID:11558903 RGD:13208866 NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877 		JBrowse link
G Tgfa transforming growth factor alpha ISO mRNA:increased expression:cartilage
protein:increased expression:cartilage		 RGD PMID:17968906 RGD:2317486 NCBI chrNW_004936491:14,659,089...14,758,614
Ensembl chrNW_004936491:14,657,100...14,758,848 		JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936475:19,835,909...19,944,426
Ensembl chrNW_004936475:19,828,763...19,942,632 		JBrowse link
lethal congenital contracture syndrome 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 congenital contracture syndrome ClinVar NCBI chrNW_004936487:16,031,832...16,063,779
Ensembl chrNW_004936487:16,031,824...16,063,803 		JBrowse link
lethal congenital contracture syndrome 1 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 autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 OMIM
ClinVar		 PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 More... NCBI chrNW_004936487:16,031,832...16,063,779
Ensembl chrNW_004936487:16,031,824...16,063,803 		JBrowse link
Lethal Congenital Contracture Syndrome 10 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: Lethal congenital contracture syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:26633546 PMID:26908619 NCBI chrNW_004936488:4,221,099...4,261,401
Ensembl chrNW_004936488:4,220,429...4,261,432 		JBrowse link
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldn gliomedin ISO ClinVar Annotator: match by term: GLDN-related condition | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:27616481 PMID:28492532 PMID:28726266 PMID:31680123 More... NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323 		JBrowse link
lethal congenital contracture syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 susceptibility ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 ClinVar
OMIM		 PMID:17701904 PMID:25741868 NCBI chrNW_004936646:497,783...515,247
Ensembl chrNW_004936646:498,749...513,297 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 OMIM
ClinVar		 PMID:17701898 PMID:25741868 NCBI chrNW_004936588:2,070,873...2,088,144
Ensembl chrNW_004936588:2,068,952...2,091,956 		JBrowse link
lethal congenital contracture syndrome 4 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: Lethal congenital contracture syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 NCBI chrNW_004936492:12,373,240...12,455,371
Ensembl chrNW_004936492:12,374,708...12,455,031 		JBrowse link
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 OMIM
ClinVar		 PMID:18414213 PMID:23092955 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936659:957,408...1,046,393
Ensembl chrNW_004936659:957,392...1,049,188 		JBrowse link
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 OMIM
ClinVar		 PMID:25055871 PMID:25741868 NCBI chrNW_004936621:609,206...612,868 JBrowse link
Lethal Congenital Contracture Syndrome 7 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: Lethal congenital contracture syndrome 7 OMIM
ClinVar		 PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 More... NCBI chrNW_004936490:17,412,837...17,430,123
Ensembl chrNW_004936490:17,412,878...17,429,041 		JBrowse link
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy6 adenylate cyclase 6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chrNW_004936512:6,612,708...6,629,202
Ensembl chrNW_004936512:6,615,012...6,629,165 		JBrowse link
G Spmip11 sperm microtubule inner protein 11 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 Ensembl chrNW_004936512:6,592,454...6,612,169 JBrowse link
Lethal Congenital Contracture Syndrome 9 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: Lethal congenital contracture syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:26004201 PMID:26752647 PMID:28492532 NCBI chrNW_004936625:3,552,611...3,688,281
Ensembl chrNW_004936625:3,552,602...3,688,287 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chrNW_004936672:1,607,914...1,661,531
Ensembl chrNW_004936672:1,609,193...1,661,528 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome OMIM
ClinVar		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chrNW_004936672:1,550,865...1,606,268
Ensembl chrNW_004936672:1,568,732...1,602,931 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,303,510...1,321,969
Ensembl chrNW_004936672:1,300,341...1,322,065 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,351,053...1,481,954
Ensembl chrNW_004936672:1,351,002...1,482,124 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chrNW_004936672:1,686,070...1,838,315
Ensembl chrNW_004936672:1,685,734...1,838,315 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004936672:1,128,104...1,135,844
Ensembl chrNW_004936672:1,128,108...1,136,292 		JBrowse link
Marden-Walker Syndrome 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: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome OMIM
ClinVar		 PMID:24726473 PMID:25741868 PMID:28492532 NCBI chrNW_004936626:802,415...1,141,260
Ensembl chrNW_004936626:802,490...1,140,082 		JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:22578647 RGD:9491592 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813 		JBrowse link
G Tlr2 toll like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tlr4 toll like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability OMIM
ClinVar		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chrNW_004936635:2,924,632...2,954,003
Ensembl chrNW_004936635:2,924,601...2,953,854 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chrNW_004936509:4,452,382...4,470,658
Ensembl chrNW_004936509:4,452,616...4,470,658 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chrNW_004936525:4,550,987...4,556,574
Ensembl chrNW_004936525:4,550,987...4,556,576 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chrNW_004936720:282,291...316,629
Ensembl chrNW_004936720:279,521...316,674 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome OMIM
ClinVar		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		JBrowse link
nail-patella syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb1 LIM domain binding 1 ISO OMIM:161200 MouseDO NCBI chrNW_004936600:3,714,630...3,728,813
Ensembl chrNW_004936600:3,714,095...3,728,815 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: LMX1B-related condition | ClinVar Annotator: match by term: Nail-patella syndrome OMIM
ClinVar		 PMID:9536098 PMID:9590287 PMID:9618165 PMID:9837817 PMID:10571942 More... NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902 		JBrowse link
G Mvb12b multivesicular body subunit 12B ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chrNW_004936487:14,178,299...14,431,687
Ensembl chrNW_004936487:14,277,942...14,431,709 		JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chrNW_004936487:14,678,820...14,699,932
Ensembl chrNW_004936487:14,678,839...14,699,882 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936475:9,653,233...9,683,258
Ensembl chrNW_004936475:9,671,868...9,681,988 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936585:2,834,202...2,854,740
Ensembl chrNW_004936585:2,834,008...2,855,387 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G Ddx3x DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936755:871,935...1,024,538
Ensembl chrNW_004936755:872,815...1,024,057 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chrNW_004936530:8,286,101...8,612,183
Ensembl chrNW_004936530:8,287,574...8,608,343 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chrNW_004936528:1,351,687...1,393,926
Ensembl chrNW_004936528:1,351,689...1,393,932 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936480:6,324,214...6,357,696
Ensembl chrNW_004936480:6,324,216...6,357,741 		JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:26704558 PMID:28492532 NCBI chrNW_004936584:5,568,740...5,668,095
Ensembl chrNW_004936584:5,568,728...5,668,116 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19366826 PMID:22228622 PMID:22729224 PMID:22949682 PMID:25157968 More... NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936664:3,649,020...3,656,545
Ensembl chrNW_004936664:3,649,833...3,656,035 		JBrowse link
G Rnf113a ring finger protein 113A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936479:10,078,201...10,079,400
Ensembl chrNW_004936479:10,078,304...10,079,338 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:35701389 NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:31495489 NCBI chrNW_004936619:2,647,880...2,676,371
Ensembl chrNW_004936619:2,647,967...2,676,488 		JBrowse link
G Tubb3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chrNW_004936641:184,736...193,835
Ensembl chrNW_004936641:184,765...193,819 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chrNW_004936922:80,136...119,702
Ensembl chrNW_004936922:80,217...119,653 		JBrowse link
neurogenic-type arthrogryposis multiplex congenita-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type OMIM
ClinVar		 PMID:5491443 PMID:28317099 NCBI chrNW_004936609:2,571,498...2,615,313
Ensembl chrNW_004936609:2,571,501...2,615,313 		JBrowse link
G Lgi4 leucine rich repeat LGI family member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type ClinVar PMID:25741868 NCBI chrNW_004936570:1,122,987...1,131,270
Ensembl chrNW_004936570:1,123,298...1,132,011 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chrNW_004936769:1,197,596...1,248,173
Ensembl chrNW_004936769:1,197,588...1,248,200 		JBrowse link
osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532 		JBrowse link
G Acan aggrecan treatment ISO RGD PMID:21853458 PMID:22833446 RGD:11570535 RGD:11570544 NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
G Aco1 aconitase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936524:1,081,672...1,134,971
Ensembl chrNW_004936524:1,081,696...1,134,971 		JBrowse link
G Actb actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G Adam12 ADAM metallopeptidase domain 12 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chrNW_004936486:13,963,000...14,189,948
Ensembl chrNW_004936486:13,963,091...14,279,796 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO RGD PMID:15818704 RGD:1559176 NCBI chrNW_004936580:4,588,182...4,598,659
Ensembl chrNW_004936580:4,588,039...4,599,014 		JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 ISO DNA:missense mutation:cds: (rs4747096) (human) RGD PMID:18790654 RGD:6771189 NCBI chrNW_004936521:7,951,176...8,025,666
Ensembl chrNW_004936521:7,952,365...8,025,614 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 treatment ISO associated with Bone Diseases, Metabolic RGD PMID:22432033 RGD:10043110 NCBI chrNW_004936903:490,718...500,443
Ensembl chrNW_004936903:491,139...500,443 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 treatment
disease_progression
no_association		 ISO protein:alternative form:synovium
associated with Bone Diseases, Metabolic
mRNA:increased expression:cartilage
DNA:missense mutations:exon: (rs226794, rs2830585) (human)
DNA:missense mutation:exon:p.R614H (human)		 RGD PMID:11801682 PMID:17530714 PMID:18240210 PMID:22084394 PMID:22432033 More... RGD:10003165 RGD:10043101 RGD:10043102 RGD:10043103 RGD:10043105 RGD:10043106 RGD:10043107 RGD:10043110 RGD:2300093 NCBI chrNW_004936640:857,565...899,355
Ensembl chrNW_004936640:858,322...898,182 		JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936844:552,729...619,429
Ensembl chrNW_004936844:554,171...619,429 		JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16948116 PMID:23894457 RGD:8695985 NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147 		JBrowse link
G Ak4 adenylate kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936692:2,593,409...2,654,583 JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24728293 NCBI chrNW_004936471:19,175,997...19,263,335
Ensembl chrNW_004936471:19,175,992...19,263,335 		JBrowse link
G Aspn asporin no_association ISO DNA:repeats:exon: RGD
OMIM		 PMID:16542493 RGD:9684966 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936555:4,285,269...4,307,715
Ensembl chrNW_004936555:4,285,269...4,310,858 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chrNW_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040 		JBrowse link
G Bad BCL2 associated agonist of cell death ISO RGD PMID:19217321 RGD:10053643 NCBI chrNW_004936599:4,924,349...4,933,683
Ensembl chrNW_004936599:4,924,789...4,933,368 		JBrowse link
G Bag6 BAG cochaperone 6 susceptibility ISO DNA:SNP: :rs3117582(human) RGD PMID:25231575 RGD:14390133 NCBI chrNW_004936727:1,866,235...1,885,266
Ensembl chrNW_004936727:1,873,413...1,885,366 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:16864079 PMID:19217321 RGD:10053643 RGD:10054095 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820 		JBrowse link
G Bcl2 BCL2 apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:16864079 PMID:19217321 RGD:10053643 RGD:10054095 NCBI chrNW_004936497:2,209,136...2,373,580
Ensembl chrNW_004936497:2,210,334...2,210,921 		JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:cartilage RGD PMID:20187128 RGD:6483317 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein disease_progression ISO RGD PMID:20157712 RGD:6483599 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chrNW_004936804:52,435...115,289
Ensembl chrNW_004936804:48,947...115,412 		JBrowse link
G Calca calcitonin related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29138829 RGD:13782343 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:29138829 RGD:13782343 NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:16508959 RGD:10043354 NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chrNW_004936475:9,432,505...9,436,240
Ensembl chrNW_004936475:9,432,505...9,436,240 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO protein:increased expression:synovial membrane: RGD PMID:19942450 RGD:10054497 NCBI chrNW_004936473:23,321,167...23,323,075 JBrowse link
G Cd36 CD36 molecule (CD36 blood group) susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936567:1,411,080...1,418,332
Ensembl chrNW_004936567:1,411,037...1,418,801 		JBrowse link
G Cilp cartilage intermediate layer protein disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chrNW_004936471:25,501,538...25,517,033
Ensembl chrNW_004936471:25,501,179...25,517,144 		JBrowse link
G Clec3b C-type lectin domain family 3 member B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chrNW_004936695:731,184...738,752
Ensembl chrNW_004936695:730,729...738,952 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936727:1,797,966...1,803,401
Ensembl chrNW_004936727:1,797,966...1,803,401 		JBrowse link
G Clic4 chloride intracellular channel 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936474:9,664,872...9,711,036 JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 PMID:18784066 NCBI chrNW_004936675:499,745...513,515
Ensembl chrNW_004936675:499,199...513,836 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:SNP:intron:IVS1 RGD PMID:10743824 RGD:5688331 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936585:5,650,322...5,686,393
Ensembl chrNW_004936585:5,651,180...5,685,923 		JBrowse link
G Col2a1 collagen type II alpha 1 chain onset
treatment		 ISO DNA:missense mutation:exon:p.R75C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9061443 PMID:16189708 PMID:16755660 PMID:19216861 RGD:8657384 RGD:8661226 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936778:394,985...430,070
Ensembl chrNW_004936778:394,953...430,113 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chrNW_004936618:2,176,328...2,260,000
Ensembl chrNW_004936618:2,176,240...2,260,000 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670472 NCBI chrNW_004936596:2,544,389...2,551,155
Ensembl chrNW_004936596:2,544,389...2,551,164 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936816:680,798...690,959
Ensembl chrNW_004936816:680,798...691,039 		JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936580:1,022,762...1,038,020
Ensembl chrNW_004936580:1,022,762...1,034,984 		JBrowse link
G Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936520:3,138,213...3,188,498
Ensembl chrNW_004936520:3,138,218...3,188,508 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:24938620 RGD:150429973 NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
G Ddx3x DEAD-box helicase 3 X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569 		JBrowse link
G Dpep1 dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936641:379,112...384,711
Ensembl chrNW_004936641:379,083...391,918 		JBrowse link
G Dpysl2 dihydropyrimidinase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936757:311,317...422,870
Ensembl chrNW_004936757:309,022...422,955 		JBrowse link
G Edil3 EGF like repeats and discoidin domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936469:2,998,424...3,391,386
Ensembl chrNW_004936469:2,996,348...3,391,721 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936588:2,259,236...2,267,692
Ensembl chrNW_004936588:2,258,309...2,266,609 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO mRNA:increased expression:articular cartilage of joint (rat) RGD PMID:31396630 RGD:42722015 NCBI chrNW_004936599:3,663,288...3,670,048
Ensembl chrNW_004936599:3,663,326...3,670,047 		JBrowse link
G Egr1 early growth response 1 ISO mRNA, protein: decreased expression RGD PMID:10806043 RGD:1626498 NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936623:3,115,357...3,130,289
Ensembl chrNW_004936623:3,115,081...3,128,183 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO mRNA:increased expression:cartilage
protein:increased expression:layer of synovial tissue, stromal cell		 RGD PMID:12823854 PMID:20495569 PMID:21869830 RGD:10395364 RGD:10395365 RGD:10395366 NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO mRNA:decreased expression:knee, articular cartilage of joint RGD PMID:24964749 RGD:10045611 NCBI chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745 		JBrowse link
G Erg ETS transcription factor ERG ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chrNW_004936500:4,459,298...4,623,290
Ensembl chrNW_004936500:4,459,275...4,624,432 		JBrowse link
G Errfi1 ERBB receptor feedback inhibitor 1 ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chrNW_004936623:2,457,709...2,462,956
Ensembl chrNW_004936623:2,456,294...2,462,467 		JBrowse link
G Esd esterase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936565:285,789...309,390
Ensembl chrNW_004936565:285,054...309,421 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNPs:introns: (rs2234693, rs9340799) (human)
DNA:SNP:intron: (rs2234693) (human)		 RGD PMID:19884274 PMID:20417295 RGD:10045662 RGD:10045830 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:SNP:intron: (rs1256031) (human) RGD PMID:19884274 RGD:10045830 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936471:35,868,851...35,942,662
Ensembl chrNW_004936471:35,868,757...35,943,139 		JBrowse link
G Ezr ezrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936489:10,413,374...10,457,771
Ensembl chrNW_004936489:10,412,710...10,458,201 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8254199 RGD:5147984 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936609:3,677,661...3,706,511
Ensembl chrNW_004936609:3,677,237...3,706,517 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:22393163 RGD:10402075 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO mRNA:increased expression:trabecular bone: RGD PMID:15781004 RGD:10402109 NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041 		JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:cartilage: RGD PMID:8646429 RGD:10402156 NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383 		JBrowse link
G Frzb frizzled related protein susceptibility ISO ClinVar Annotator: match by term: Osteoarthritis OMIM
ClinVar		 PMID:15210948 PMID:25741868 NCBI chrNW_004936509:11,440,414...11,471,042
Ensembl chrNW_004936509:11,440,148...11,470,967 		JBrowse link
G Ftl ferritin light chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936664:2,976,325...2,977,878
Ensembl chrNW_004936664:2,976,314...2,977,877 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Gdf5 growth differentiation factor 5 ISO OMIM NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721 		JBrowse link
G Ghr growth hormone receptor ISO DNA:deletion:exon: RGD PMID:23740230 RGD:10003113 NCBI chrNW_004936518:235,996...380,225
Ensembl chrNW_004936518:235,990...380,272 		JBrowse link
G Gls glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936506:7,237,099...7,314,011
Ensembl chrNW_004936506:7,237,099...7,313,976 		JBrowse link
G Gstk1 glutathione S-transferase kappa 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936527:722,548...727,169
Ensembl chrNW_004936527:722,083...728,824 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936493:6,182,786...6,224,601
Ensembl chrNW_004936493:6,182,261...6,224,693 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO RGD PMID:22586168 RGD:10402054 NCBI chrNW_004936479:16,855,368...16,886,210
Ensembl chrNW_004936479:16,854,852...16,886,477 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936506:7,811,624...7,882,861
Ensembl chrNW_004936506:7,811,600...7,882,642 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 PMID:18789153 RGD:10395366 RGD:10402406 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22330250 RGD:10401949 NCBI chrNW_004936472:25,236,728...25,246,585
Ensembl chrNW_004936472:25,236,728...25,246,580 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936483:15,845,777...15,864,341
Ensembl chrNW_004936483:15,845,792...15,864,341 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Igf1r insulin like growth factor 1 receptor severity ISO mRNA:increased expression:articular cartilage of joint: RGD PMID:8609369 RGD:10045889 NCBI chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Igf2 insulin like growth factor 2 ISO mRNA:increased expression:cartilage RGD PMID:22527881 RGD:10402552 NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:18775662 RGD:10402575 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO protein:increased expression:cartilage RGD PMID:24786088 RGD:12910979 NCBI chrNW_004936569:1,474,693...1,480,562
Ensembl chrNW_004936569:1,474,665...1,480,568 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:chonodrocyte: RGD PMID:9497936 RGD:10047053 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:21954917 PMID:22890185 RGD:7207218 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il4r interleukin 4 receptor ISO protein:increased expression:serum RGD PMID:16647277 RGD:10402785 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22035391 RGD:5687147 NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430 		JBrowse link
G Immt inner membrane mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936712:1,257,427...1,301,045
Ensembl chrNW_004936712:1,257,575...1,300,729 		JBrowse link
G Ins insulin ISO protein:increased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357 		JBrowse link
G Isoc2 isochorismatase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936886:681,325...686,142
Ensembl chrNW_004936886:681,643...684,281 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:18354251 RGD:6482239 NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315 		JBrowse link
G Lep leptin severity ISO protein:increased expression:tibia, cartilage, chondrocyte (human) RGD PMID:14613274 RGD:10053634 NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334 		JBrowse link
G Lgals3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34894372 NCBI chrNW_004936697:20,861...38,568
Ensembl chrNW_004936697:27,145...38,586 		JBrowse link
G LOC101969021 somatotropin ISO protein:increased expression:plasma RGD PMID:7152485 RGD:10003140 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471 		JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 ClinVar
OMIM		 PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532 NCBI chrNW_004936493:11,352,206...11,371,596
Ensembl chrNW_004936493:11,352,206...11,371,349 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO mRNA, protein:increased expression:cartilage RGD PMID:11134178 PMID:16128596 PMID:17530714 PMID:22890185 PMID:23982761 RGD:10043101 RGD:10043117 RGD:2300093 RGD:7207089 RGD:7207218 NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:synovial fluid (human) RGD PMID:15194590 RGD:7207131 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chrNW_004936551:5,228,950...5,238,948
Ensembl chrNW_004936551:5,228,950...5,238,948 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936635:2,390,390...2,461,870
Ensembl chrNW_004936635:2,389,823...2,461,930 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:22084394 PMID:24651621 RGD:10003163 RGD:10003165 NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Mvp major vault protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936501:12,598,907...12,610,306
Ensembl chrNW_004936501:12,599,036...12,655,910 		JBrowse link
G Myh13 myosin heavy chain 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936595:3,204,487...3,262,459
Ensembl chrNW_004936595:3,204,573...3,255,494 		JBrowse link
G Myl3 myosin light chain 3 ISO MouseDO NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO protein:increased expression:spinal cord RGD PMID:20722027 RGD:10412653 NCBI chrNW_004936479:20,259,260...20,293,116
Ensembl chrNW_004936479:20,275,319...20,292,688 		JBrowse link
G Ncor2 nuclear receptor corepressor 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chrNW_004936558:658,723...775,263
Ensembl chrNW_004936558:677,610...775,288 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936599:2,081,493...2,085,635
Ensembl chrNW_004936599:2,081,079...2,084,730 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936599:2,169,434...2,173,090
Ensembl chrNW_004936599:2,167,173...2,173,227 		JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 treatment ISO RGD PMID:34738623 RGD:329328930 NCBI chrNW_004936616:484,062...584,950
Ensembl chrNW_004936616:484,045...587,891 		JBrowse link
G Ngf nerve growth factor treatment ISO RGD PMID:25677108 PMID:33806315 RGD:402463969 RGD:402463970 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364 		JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936490:10,634,788...10,640,182
Ensembl chrNW_004936490:10,633,454...10,649,914 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936709:977,851...989,949
Ensembl chrNW_004936709:978,229...989,874 		JBrowse link
G Pdcd6ip programmed cell death 6 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936473:24,010,942...24,086,836
Ensembl chrNW_004936473:24,010,935...24,086,846 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936844:889,720...906,631
Ensembl chrNW_004936844:889,635...909,586 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO mRNA:increased expression:tibia (rat) RGD PMID:21864409 RGD:6771362 NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537 		JBrowse link
G Plcd1 phospholipase C delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936473:27,364,404...27,387,337
Ensembl chrNW_004936473:27,364,389...27,387,412 		JBrowse link
G Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936519:9,053,192...9,139,221
Ensembl chrNW_004936519:9,053,033...9,140,059 		JBrowse link
G Pls3 plastin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936499:246,042...335,440
Ensembl chrNW_004936499:246,042...335,440 		JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:21378032 RGD:5508809 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936602:1,230,907...1,368,588
Ensembl chrNW_004936602:1,230,907...1,304,743 		JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936901:622,893...653,044
Ensembl chrNW_004936901:622,888...653,044 		JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004937098:67,298...80,019
Ensembl chrNW_004937098:66,832...81,708 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15334463 PMID:32004530 RGD:1625347 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936660:1,669,352...1,673,972
Ensembl chrNW_004936660:1,668,956...1,672,067 		JBrowse link
G Rcn3 reticulocalbin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936664:3,382,467...3,396,111
Ensembl chrNW_004936664:3,382,494...3,395,705 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16948116 NCBI chrNW_004936580:3,355,751...3,358,030
Ensembl chrNW_004936580:3,355,699...3,358,242 		JBrowse link
G Scrn1 secernin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936478:6,222,498...6,281,162
Ensembl chrNW_004936478:6,222,018...6,280,622 		JBrowse link
G Sdcbp syndecan binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936496:14,331,971...14,347,123
Ensembl chrNW_004936496:14,331,662...14,347,197 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936815:1,148,963...1,167,585
Ensembl chrNW_004936815:1,148,963...1,167,568 		JBrowse link
G Sec23a SEC23 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936494:12,643,790...12,702,390
Ensembl chrNW_004936494:12,642,870...12,699,218 		JBrowse link
G Sgcg sarcoglycan gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936688:2,083,930...2,191,206
Ensembl chrNW_004936688:2,083,846...2,191,876 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18973239 NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism
OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401		 CTD
MouseDO		 PMID:21217753 PMID:22772368 NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:18784066 PMID:22108257 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Tent5a terminal nucleotidyltransferase 5A susceptibility ISO DNA:repeats: : RGD PMID:25231575 RGD:14390133 NCBI chrNW_004936510:8,813,977...8,820,909
Ensembl chrNW_004936510:8,814,292...8,816,929 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chrNW_004936803:69,296...90,270
Ensembl chrNW_004936803:73,946...90,295 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936561:3,178,244...3,207,551
Ensembl chrNW_004936561:3,178,293...3,207,561 		JBrowse link
G Tlr8 toll like receptor 8 ISO ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chrNW_004936470:2,638,020...2,642,201
Ensembl chrNW_004936470:2,638,014...2,641,133 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO RGD PMID:14872496 RGD:2290500 NCBI chrNW_004936593:212,642...230,645
Ensembl chrNW_004936593:212,532...230,651 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936487:3,959,224...3,975,959
Ensembl chrNW_004936487:3,959,224...3,975,959 		JBrowse link
G Trap1 TNF receptor associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936694:667,687...704,994
Ensembl chrNW_004936694:667,691...704,994 		JBrowse link
G Trim2 tripartite motif containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936576:88,163...202,944
Ensembl chrNW_004936576:88,024...202,958 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21964574 NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936492:10,185,096...10,244,466
Ensembl chrNW_004936492:10,187,206...10,225,989 		JBrowse link
G Vdac2 voltage dependent anion channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936521:4,122,447...4,136,228
Ensembl chrNW_004936521:4,122,270...4,136,380 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16876394 PMID:18784066 NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chrNW_004936532:5,931,677...5,938,569 JBrowse link
Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia OMIM
ClinVar		 PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More... NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
Osteoarthritis, Experimental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Becn1 beclin 1 treatment ISO RGD PMID:23589102 RGD:11561955 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19404941 RGD:9068434 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp6 caspase 6 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chrNW_004936563:912,502...920,025
Ensembl chrNW_004936563:911,304...919,119 		JBrowse link
G Casp7 caspase 7 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chrNW_004936486:4,082,664...4,114,942
Ensembl chrNW_004936486:4,088,372...4,114,955 		JBrowse link
G Casp8 caspase 8 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment ISO RGD PMID:25128628 RGD:11041187 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 treatment ISO RGD PMID:25975052 RGD:150429975 NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:23041435 RGD:10402106 NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041 		JBrowse link
G LOC101956126 heat shock 70 kDa protein 1 treatment ISO RGD PMID:16394269 RGD:10402538 NCBI chrNW_004936727:1,732,323...1,735,128 JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 ISO mRNA:decreased expression:knee RGD PMID:24754147 RGD:10412054 NCBI chrNW_004936477:20,234,582...20,250,756
Ensembl chrNW_004936477:20,234,533...20,250,751 		JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha treatment ISO RGD PMID:23589102 RGD:11561955 NCBI chrNW_004936561:6,104,748...6,106,348
Ensembl chrNW_004936561:6,104,742...6,106,699 		JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO RGD PMID:29364174 RGD:13800565 NCBI chrNW_004936501:12,342,670...12,390,650
Ensembl chrNW_004936501:12,384,804...12,392,180 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:decreased expression:skeletal joint RGD PMID:31742919 RGD:40924673 NCBI chrNW_004936612:1,262,557...1,556,281
Ensembl chrNW_004936612:1,262,544...1,556,016 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:28122611 RGD:27226703 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
G Ulk1 unc-51 like autophagy activating kinase 1 treatment ISO RGD PMID:23589102 RGD:11561955 NCBI chrNW_004936660:2,160,394...2,188,848
Ensembl chrNW_004936660:2,163,844...2,187,080 		JBrowse link
Osteoarthritis, Hip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO mRNA:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chrNW_004936640:857,565...899,355
Ensembl chrNW_004936640:858,322...898,182 		JBrowse link
G Aspn asporin ISO DNA:repeats:exon: RGD PMID:15640800 RGD:9684965 NCBI chrNW_004936487:2,080,014...2,104,534
Ensembl chrNW_004936487:2,079,973...2,104,499 		JBrowse link
G Astn2 astrotactin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936487:5,409,413...5,854,418
Ensembl chrNW_004936487:5,409,287...5,916,553 		JBrowse link
G Chadl chondroadherin like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 PMID:30374069 NCBI chrNW_004936492:633,443...643,550
Ensembl chrNW_004936492:633,477...646,002 		JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chrNW_004936824:734,499...741,674
Ensembl chrNW_004936824:734,488...769,010 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association
susceptibility		 ISO DNA:SNP:intron:g.2046G>T (human) RGD PMID:9811048 PMID:15880349 PMID:17187661 RGD:5688305 RGD:5688306 RGD:5688330 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 NCBI chrNW_004936596:2,544,389...2,551,155
Ensembl chrNW_004936596:2,544,389...2,551,164 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689 		JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936558:2,260,459...2,268,941
Ensembl chrNW_004936558:2,260,359...2,268,941 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNP:intron:g.-397T>C (human) RGD PMID:17419075 RGD:10045661 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936788:737,375...900,912
Ensembl chrNW_004936788:750,934...900,714 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Osteoarthritis, hip ClinVar PMID:17384641 PMID:28492532 NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721 		JBrowse link
G Ghr growth hormone receptor ISO associated with Acromegaly;DNA:deletion:exon: RGD PMID:19864451 RGD:10003142 NCBI chrNW_004936518:235,996...380,225
Ensembl chrNW_004936518:235,990...380,272 		JBrowse link
G Hdac9 histone deacetylase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936546:4,398,003...5,247,649
Ensembl chrNW_004936546:4,781,304...5,246,939 		JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580 		JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 PMID:30664745 NCBI chrNW_004936886:617,531...620,661
Ensembl chrNW_004936886:618,419...621,772 		JBrowse link
G Il4r interleukin 4 receptor susceptibility
no_association		 ISO DNA:SNPs:multiple
DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human)		 RGD PMID:14745651 PMID:19036616 RGD:10402782 RGD:10402784 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		JBrowse link
G Itih1 inter-alpha-trypsin inhibitor heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936473:3,534,071...3,548,554
Ensembl chrNW_004936473:3,533,819...3,548,411 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936599:3,902,903...3,918,471
Ensembl chrNW_004936599:3,902,897...3,918,471 		JBrowse link
G Mapt microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chrNW_004936551:5,040,084...5,050,384
Ensembl chrNW_004936551:5,040,084...5,050,384 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936471:27,080,662...27,185,861
Ensembl chrNW_004936471:27,080,575...27,189,793 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281 		JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126 		JBrowse link
PAPA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne OMIM
ClinVar		 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 PMID:16199547 More... NCBI chrNW_004936471:35,272,263...35,294,942
Ensembl chrNW_004936471:35,272,137...35,313,154 		JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093 		JBrowse link
primary hypertrophic osteoarthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing OMIM
ClinVar		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:18805827 PMID:19306095 More... NCBI chrNW_004936516:5,551,192...5,578,796
Ensembl chrNW_004936516:5,550,203...5,578,832 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:7,069,003...7,155,229
Ensembl chrNW_004936529:7,068,970...7,155,950 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant OMIM
ClinVar		 PMID:16283874 PMID:22197487 PMID:22553128 PMID:22906430 PMID:23509104 More... NCBI chrNW_004936529:7,069,003...7,155,229
Ensembl chrNW_004936529:7,068,970...7,155,950 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM
ClinVar		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:19306095 PMID:25741868 More... NCBI chrNW_004936516:5,551,192...5,578,796
Ensembl chrNW_004936516:5,550,203...5,578,832 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:7,069,003...7,155,229
Ensembl chrNW_004936529:7,068,970...7,155,950 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:16283874 PMID:22197487 PMID:22331663 PMID:22553128 PMID:22696055 More... NCBI chrNW_004936529:7,069,003...7,155,229
Ensembl chrNW_004936529:7,068,970...7,155,950 		JBrowse link
progressive pseudorheumatoid arthropathy of childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia OMIM
ClinVar		 PMID:9536098 PMID:10471507 PMID:15631777 PMID:16152649 PMID:17576681 More... NCBI chrNW_004936679:751,664...767,126
Ensembl chrNW_004936679:750,934...769,242 		JBrowse link
proximal symphalangism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:28492532 NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chrNW_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267 		JBrowse link
G Gng3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chrNW_004936581:565,791...567,344
Ensembl chrNW_004936581:566,005...567,072 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 More... NCBI chrNW_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505 		JBrowse link
G Nog noggin ISO DNA:missense mutation:cds:c.499C>T(p.R167C)human
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human)		 RGD
CTD		 PMID:10080184 PMID:11846737 PMID:24326127 RGD:12801455 RGD:12801479 RGD:1600234 NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		JBrowse link
proximal symphalangism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Proximal symphalangism 1A OMIM
ClinVar		 PMID:7557985 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		JBrowse link
proximal symphalangism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism, proximal, 1B OMIM
ClinVar		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:16532400 PMID:16892395 More... NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721 		JBrowse link
psoriatic arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Cd68 CD68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Fbxl19 F-box and leucine rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chrNW_004936501:13,312,311...13,332,599
Ensembl chrNW_004936501:13,312,304...13,332,644 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chrNW_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076 		JBrowse link
G Il13 interleukin 13 susceptibility ISO DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human
DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)		 RGD PMID:19554022 PMID:21349879 RGD:8549517 RGD:8549552 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373 		JBrowse link
G Il17a interleukin 17A severity
treatment		 ISO RGD PMID:23361084 PMID:24567524 RGD:8698658 RGD:9068444 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G LOC101964975 interleukin-8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		JBrowse link
G LOC101969148 cytochrome P450 1A1 susceptibility ISO DNA:polymorphisms: :4887C>A, 4889A>G (human) RGD PMID:15124938 RGD:5147746 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G Lta lymphotoxin alpha susceptibility
treatment		 ISO ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to OMIM
ClinVar
RGD		 PMID:12426569 PMID:12746914 PMID:14681301 PMID:22480318 RGD:8548821 NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408446 NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to ClinVar PMID:11385576 PMID:25741868 PMID:28492532 NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4 group A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chrNW_004936469:21,912,118...21,920,486
Ensembl chrNW_004936469:21,912,047...21,920,486 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22751595 RGD:6771221 NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation: :R620W (rs2476601) (human)		 RGD PMID:15934099 PMID:21410964 RGD:6484550 RGD:6484592 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166 (human)		 RGD PMID:23127549 RGD:8694309 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs10181656 (human) RGD PMID:22328738 RGD:8661724 NCBI chrNW_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:SNP: :-238G>A(rs361525)(human)
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to		 RGD
ClinVar		 PMID:8056188 PMID:9326391 PMID:9818939 PMID:10450718 PMID:11261930 More... RGD:7394813 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Traf3ip2 TRAF3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 NCBI chrNW_004936679:308,508...348,561
Ensembl chrNW_004936679:316,277...336,557 		JBrowse link
reactive arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101969148 cytochrome P450 1A1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:14687717 RGD:1581251 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:14687717 RGD:1581251 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:7748224 RGD:6482278 NCBI chrNW_004936476:25,899,514...25,907,690
Ensembl chrNW_004936476:25,899,339...25,907,695 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:7748224 RGD:6482278 NCBI chrNW_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427 		JBrowse link
relapsing polychondritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fst follistatin ISO OMIM:275210 MouseDO NCBI chrNW_004936480:13,990,967...13,997,248
Ensembl chrNW_004936480:13,990,929...13,997,248 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO OMIM:275210 MouseDO NCBI chrNW_004936487:15,877,075...15,905,752
Ensembl chrNW_004936487:15,876,606...15,906,003
Ensembl chrNW_004936487:15,876,606...15,906,003 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... NCBI chrNW_004936474:22,035,059...22,077,846
Ensembl chrNW_004936474:22,034,801...22,077,986 		JBrowse link
restrictive dermopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO OMIM NCBI chrNW_004936474:22,035,059...22,077,846
Ensembl chrNW_004936474:22,034,801...22,077,986 		JBrowse link
restrictive dermopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 OMIM
ClinVar		 PMID:2526018 PMID:2733290 PMID:9500556 PMID:10587585 PMID:10655060 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gc GC vitamin D binding protein ISO RGD PMID:2737695 RGD:5509933 NCBI chrNW_004936598:3,220,029...3,256,091
Ensembl chrNW_004936598:3,219,991...3,261,629 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
rheumatic heart disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936735:266,918...283,858
Ensembl chrNW_004936735:266,754...284,377 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936664:2,968,103...2,973,652
Ensembl chrNW_004936664:2,967,865...2,973,820 		JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chrNW_004936810:791,823...838,303
Ensembl chrNW_004936810:758,182...838,365 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G Fcn3 ficolin 3 ISO ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chrNW_004936474:11,680,166...11,685,214 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Inhba inhibin subunit beta A ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936478:16,878,725...16,884,065 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936818:453,635...569,194
Ensembl chrNW_004936818:453,635...567,469 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936514:4,456,498...4,462,436
Ensembl chrNW_004936514:4,456,484...4,462,987 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chrNW_004936530:9,312,965...9,315,593
Ensembl chrNW_004936530:9,312,965...9,316,165 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936546:5,331,220...5,332,669
Ensembl chrNW_004936546:5,331,863...5,332,555 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936574:17,643...175,762
Ensembl chrNW_004936574:17,684...178,293 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chrNW_004936469:32,240,730...32,372,413
Ensembl chrNW_004936469:32,240,835...32,371,267 		JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chrNW_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841 		JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Sele selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chrNW_004936481:16,915,203...16,921,840
Ensembl chrNW_004936481:16,915,182...16,921,840 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048 		JBrowse link
rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20080907 PMID:22104130 NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393 		JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936490:11,039,968...11,086,670
Ensembl chrNW_004936490:11,040,445...11,086,566 		JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936472:14,396,986...14,624,597
Ensembl chrNW_004936472:14,397,222...14,624,648 		JBrowse link
G Abcc5 ATP binding cassette subfamily C member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936578:5,838,044...5,916,287
Ensembl chrNW_004936578:5,837,993...5,916,274 		JBrowse link
G Acan aggrecan disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased degradation:cartilage		 CTD
RGD		 PMID:15292528 PMID:16507130 RGD:11570537 NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936525:1,559,575...1,570,679 JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO mRNA:increased expression:synovium RGD PMID:11801682 RGD:10043106 NCBI chrNW_004936903:490,718...500,443
Ensembl chrNW_004936903:491,139...500,443 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO protein:alternative form:synovium RGD PMID:11801682 RGD:10043106 NCBI chrNW_004936640:857,565...899,355
Ensembl chrNW_004936640:858,322...898,182 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:12833524 PMID:21789720 RGD:5686424 NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936619:597,970...618,564
Ensembl chrNW_004936619:608,441...616,779 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:12739037 RGD:5684893 NCBI chrNW_004936710:1,410,589...1,413,279
Ensembl chrNW_004936710:1,411,446...1,413,098 		JBrowse link
G Aff3 ALF transcription elongation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936661:771,265...1,264,456
Ensembl chrNW_004936661:771,265...1,262,166 		JBrowse link
G Ager advanced glycosylation end-product specific receptor ISO protein:decreased expression:plasma (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16385501 PMID:20541603 RGD:7244141 NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18617548 NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936554:7,807,914...7,848,691
Ensembl chrNW_004936554:7,808,355...7,867,931 		JBrowse link
G Ang angiogenin ISO RGD PMID:12653852 RGD:6892721 NCBI chrNW_004936880:39,372...40,070 JBrowse link
G Ankrd55 ankyrin repeat domain 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936480:11,672,300...11,769,183
Ensembl chrNW_004936480:11,671,842...11,769,228 		JBrowse link
G Anxa3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chrNW_004936676:2,153,752...2,216,498
Ensembl chrNW_004936676:2,153,689...2,216,627 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood serum (human) RGD PMID:20367977 RGD:5685646 NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 PMID:23143596 NCBI chrNW_004936614:1,072,263...1,252,573
Ensembl chrNW_004936614:1,072,260...1,252,283 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19193698 NCBI chrNW_004936586:1,782,581...1,809,458
Ensembl chrNW_004936586:1,782,528...1,810,010 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding ISO mRNA:decreased expression:liver RGD PMID:18372237 RGD:153352318 NCBI chrNW_004936543:105,983...113,475
Ensembl chrNW_004936543:105,956...114,190 		JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chrNW_004936491:7,482,226...7,511,419
Ensembl chrNW_004936491:7,482,239...7,510,762 		JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936475:17,624,327...17,627,944
Ensembl chrNW_004936475:17,624,842...17,626,050 		JBrowse link
G Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936750:829,188...918,316
Ensembl chrNW_004936750:826,818...918,322 		JBrowse link
G Bcl2a1 BCL2 related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936471:37,981,851...37,993,097
Ensembl chrNW_004936471:37,981,772...37,993,116 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936604:548,844...551,031
Ensembl chrNW_004936604:548,847...549,956 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:serum RGD PMID:3488088 PMID:22447331 RGD:6483593 RGD:6483600 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		JBrowse link
G Bgn biglycan ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936675:3,228,982...3,246,617
Ensembl chrNW_004936675:3,229,154...3,246,292 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		JBrowse link
G Btnl2 butyrophilin like 2 susceptibility ISO DNA:SNPs: : RGD PMID:23364395 RGD:9685033 NCBI chrNW_004936727:567,656...587,784
Ensembl chrNW_004936727:567,656...587,784 		JBrowse link
G C3 complement C3 ISO RGD PMID:7561187 RGD:11040775 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cald1 caldesmon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chrNW_004936579:868,681...1,046,198
Ensembl chrNW_004936579:868,500...1,046,257 		JBrowse link
G Casp7 caspase 7 ISO RGD PMID:18785314 RGD:5684540 NCBI chrNW_004936486:4,082,664...4,114,942
Ensembl chrNW_004936486:4,088,372...4,114,955 		JBrowse link
G Cast calpastatin ISO RGD PMID:7706496 RGD:5683620 NCBI chrNW_004936523:6,688,153...6,798,184
Ensembl chrNW_004936523:6,686,519...6,798,321 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936589:2,553,932...2,561,186
Ensembl chrNW_004936589:2,552,477...2,561,569 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chrNW_004936475:9,432,505...9,436,240
Ensembl chrNW_004936475:9,432,505...9,436,240 		JBrowse link
G Ccl8 C-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936538:805,273...806,715
Ensembl chrNW_004936538:805,259...806,695 		JBrowse link
G Ccn1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)		 CTD
RGD		 PMID:19192274 PMID:34031328 RGD:329845561 NCBI chrNW_004936608:152,174...155,123
Ensembl chrNW_004936608:151,838...155,358 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO mRNA:increased expression:synovium:
protein:increased expression:synovial membrane:		 RGD PMID:19942450 PMID:25430645 RGD:10054497 RGD:10054499 NCBI chrNW_004936473:23,321,167...23,323,075 JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453841 PMID:20453842 PMID:23143596 NCBI chrNW_004936489:16,669,297...16,689,451
Ensembl chrNW_004936489:16,669,297...16,689,451 		JBrowse link
G Cd2 CD2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936627:1,902,120...1,915,257
Ensembl chrNW_004936627:1,902,120...1,915,257 		JBrowse link
G Cd244 CD244 molecule susceptibility ISO ClinVar Annotator: match by term: Rheumatoid arthritis OMIM
ClinVar		 PMID:18794858 NCBI chrNW_004936903:146,108...162,410 JBrowse link
G Cd28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:19075187 PMID:19898481 PMID:20453842 PMID:23143596 RGD:5131619 NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407 		JBrowse link
G Cd3e CD3e molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936542:3,379,361...3,390,677 JBrowse link
G Cd40 CD40 molecule ISO DNA:SNP: :rs4810485 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18794853 PMID:20453842 PMID:20498205 PMID:23143596 RGD:5490972 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Cd5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936581:1,854,166...1,866,843
Ensembl chrNW_004936581:1,854,460...1,873,142 		JBrowse link
G Cd80 CD80 molecule ISO protein:increased expression:serum RGD PMID:22917707 RGD:6893647 NCBI chrNW_004936536:6,462,080...6,483,450 JBrowse link
G Cd83 CD83 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chrNW_004936552:637,471...654,422
Ensembl chrNW_004936552:637,043...656,452 		JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 NCBI chrNW_004936803:1,025,047...1,229,396
Ensembl chrNW_004936803:1,024,779...1,227,516 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:10461474 RGD:4892605 NCBI chrNW_004936567:1,411,080...1,418,332
Ensembl chrNW_004936567:1,411,037...1,418,801 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO mRNA,protein:increased expression:joint, spleen: RGD PMID:31279484 RGD:151676715 NCBI chrNW_004937351:32,324...46,871
Ensembl chrNW_004937351:34,921...47,246 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:23261301 PMID:25741868 PMID:28492532 NCBI chrNW_004936525:4,550,987...4,556,574
Ensembl chrNW_004936525:4,550,987...4,556,576 		JBrowse link
G Ciita class II major histocompatibility complex transactivator no_association
susceptibility		 ISO DNA:polymorphism:promoter:rs3087456, no association in a German cohort
DNA:polymorphism:promoter:-168A>G
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis		 RGD
OMIM
ClinVar		 PMID:15821736 PMID:16426246 PMID:16849401 PMID:25741868 PMID:28492532 RGD:1358146 RGD:5491189 NCBI chrNW_004936530:9,033,510...9,073,341 JBrowse link
G Clec12a C-type lectin domain family 12 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936902:542,981...556,142
Ensembl chrNW_004936902:543,670...556,014 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs6498169G RGD PMID:19221398 RGD:5491176 NCBI chrNW_004936530:9,089,478...9,264,563
Ensembl chrNW_004936530:9,089,476...9,264,592 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 PMID:29935983 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:1568518 PMID:22173958 RGD:6904209 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936816:680,798...690,959
Ensembl chrNW_004936816:680,798...691,039 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:11465708 RGD:4892002 NCBI chrNW_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chrNW_004936762:66,636...69,694
Ensembl chrNW_004936762:66,636...69,373 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459 		JBrowse link
G Ddit4 DNA damage inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936521:6,646,864...6,648,982
Ensembl chrNW_004936521:6,646,797...6,648,983 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936542:3,748,599...3,781,405
Ensembl chrNW_004936542:3,748,575...3,780,692 		JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936469:67,962...83,116 JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chrNW_004936473:8,430,235...8,495,170
Ensembl chrNW_004936473:8,430,231...8,457,469 		JBrowse link
G Dnmt1 DNA methyltransferase 1 severity ISO mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO DNA:polymorphism:promoter:-283C>T(human) RGD PMID:19777235 RGD:9589110 NCBI chrNW_004936485:19,547,836...19,570,716 JBrowse link
G Edn1 endothelin 1 treatment ISO RGD PMID:22249931 RGD:8661695 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898480 NCBI chrNW_004936623:3,115,357...3,130,289
Ensembl chrNW_004936623:3,115,081...3,128,183 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856 		JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chrNW_004936675:670,915...697,696
Ensembl chrNW_004936675:670,915...697,668 		JBrowse link
G Esr2 estrogen receptor 2 severity ISO DNA:SNP:exon:rs1256049(human) RGD PMID:21523342 RGD:5508794 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:snp:promoter:g.-670A>G (human)
protein:increased expression:serum (human)		 RGD PMID:12148596 PMID:20875116 PMID:23053964 RGD:12903969 RGD:8662433 RGD:8662455 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936481:14,789,547...14,795,780 JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO protein:increased expression:synovial joint: RGD PMID:16670289 RGD:9685708 NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: :p.H131R (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8254199 PMID:12508778 PMID:20453842 PMID:23143596 RGD:5147978 RGD:5147984 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936476:23,611,166...23,702,283
Ensembl chrNW_004936476:23,640,355...23,700,314 		JBrowse link
G Foxo3 forkhead box O3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: RGD PMID:19435720 RGD:10402186 NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837 		JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20476861 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936487:15,453,010...15,466,591
Ensembl chrNW_004936487:15,453,032...15,468,985 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936500:8,750,928...8,782,303
Ensembl chrNW_004936500:8,753,463...8,786,236 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966 		JBrowse link
G Gc GC vitamin D binding protein ISO protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:3874814 PMID:9548303 RGD:5509931 NCBI chrNW_004936598:3,220,029...3,256,091
Ensembl chrNW_004936598:3,219,991...3,261,629 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18830904 NCBI chrNW_004936561:5,343,038...5,347,721
Ensembl chrNW_004936561:5,343,038...5,347,721 		JBrowse link
G Ggh gamma-glutamyl hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chrNW_004936496:10,485,528...10,505,506
Ensembl chrNW_004936496:10,485,504...10,505,842 		JBrowse link
G Gin1 gypsy retrotransposon integrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936523:1,418,387...1,443,322
Ensembl chrNW_004936523:1,418,316...1,443,618 		JBrowse link
G Gprc5a G protein-coupled receptor class C group 5 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936587:4,427,208...4,443,302
Ensembl chrNW_004936587:4,427,189...4,443,351 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO CTD Direct Evidence: marker/mechanism
DNA: deletion: : heterozygous
protein: decreased expression: mononuclear leukocytes		 CTD
RGD		 PMID:10094932 PMID:18662895 RGD:5688373 RGD:5688380 NCBI chrNW_004936599:2,437,061...2,456,141
Ensembl chrNW_004936599:2,437,032...2,456,147 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO protein: : mononuclear blood cells
DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis		 RGD PMID:10094932 PMID:18662895 RGD:5688373 RGD:5688380 NCBI chrNW_004936486:8,720,036...8,830,472
Ensembl chrNW_004936486:8,720,036...8,831,075 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO DNA: deletion: : homozygous
protein: decreased expression: mononuclear leukocytes
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10094932 PMID:18662895 RGD:5688373 RGD:5688380 NCBI chrNW_004936597:1,706,671...1,722,370
Ensembl chrNW_004936597:1,706,665...1,722,370 		JBrowse link
G Gsdme gasdermin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936478:1,655,487...1,720,996 JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936469:2,745,568...2,772,789
Ensembl chrNW_004936469:2,742,846...2,808,123 		JBrowse link
G Hcls1 hematopoietic cell-specific Lyn substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936536:8,065,489...8,084,777
Ensembl chrNW_004936536:8,065,464...8,083,923 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32289289 NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chrNW_004936671:1,940,079...1,947,574
Ensembl chrNW_004936671:1,940,101...1,947,580 		JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 severity ISO RGD PMID:18025202 RGD:9685481 NCBI chrNW_004936478:2,970,261...2,980,277
Ensembl chrNW_004936478:2,970,468...2,980,381 		JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936509:5,603,661...5,606,850
Ensembl chrNW_004936509:5,603,642...5,606,850 		JBrowse link
G Hoxd13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936557:3,358,809...3,403,461
Ensembl chrNW_004936557:3,357,016...3,403,714 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chrNW_004936835:316,767...321,999
Ensembl chrNW_004936835:316,767...321,990 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:peripheral blood lymphocyte (human) RGD PMID:22047640 RGD:5688784 NCBI chrNW_004936647:2,087,650...2,133,343
Ensembl chrNW_004936647:2,087,604...2,133,355 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:synovial joint RGD PMID:11315915 RGD:5685639 NCBI chrNW_004936487:13,348,465...13,352,717
Ensembl chrNW_004936487:13,348,465...13,352,717 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO protein:increased expression:synovial cell: RGD PMID:23739258 RGD:10402561 NCBI chrNW_004936531:7,702,186...7,716,428
Ensembl chrNW_004936531:7,702,695...7,716,380 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO protein:increased expression:serum: RGD PMID:21417552 RGD:10402843 NCBI chrNW_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chrNW_004936506:1,678,069...1,687,632 JBrowse link
G Ifng interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:synovial (human)		 CTD
RGD		 PMID:1417133 PMID:22450443 PMID:22660635 RGD:155663483 RGD:8157623 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Igf2 insulin like growth factor 2 ISO DNA:loss of imprinting:synovial cell
protein:decreased expression:plasma		 RGD PMID:11247331 PMID:19556211 RGD:5510001 RGD:5510014 NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936478:20,511,490...20,518,251
Ensembl chrNW_004936478:20,510,137...20,518,306 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936490:14,939,693...15,025,728
Ensembl chrNW_004936490:14,939,776...15,025,728 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of ClinVar
OMIM		 PMID:12847677 PMID:25741868 PMID:28492532 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373 		JBrowse link
G Il17a interleukin 17A treatment ISO mRNA:increased expression:synovial (human) RGD PMID:20926833 PMID:22660635 RGD:155663483 RGD:9068415 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16368150 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of ClinVar PMID:12847677 PMID:25741868 PMID:28492532 NCBI chrNW_004936557:5,765,093...5,769,853
Ensembl chrNW_004936557:5,765,093...5,769,853 		JBrowse link
G Il1a interleukin 1 alpha severity ISO protein:increased expression:plasma, synovial fluid
associated with lung disease, interstitial		 RGD PMID:8162643 PMID:11192540 RGD:4142818 RGD:7794716 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:synovial (human)
protein:decreased expression:serum		 CTD
RGD		 PMID:12566094 PMID:17379860 PMID:22414257 PMID:22450443 PMID:22660635 RGD:155663483 RGD:6482656 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:7706905 PMID:10637275 PMID:19192274 PMID:19447938 RGD:7174696 RGD:8549810 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il20 interleukin 20 ISO RGD PMID:16947773 RGD:5147395 NCBI chrNW_004936557:5,749,419...5,751,776
Ensembl chrNW_004936557:5,749,419...5,751,776 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:19342640 RGD:6892964 NCBI chrNW_004936501:11,100,170...11,112,112
Ensembl chrNW_004936501:11,100,170...11,110,744 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936646:743,630...745,998
Ensembl chrNW_004936646:743,688...745,836 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP::rs1343151(human) RGD PMID:18647855 RGD:8549596 NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:20476861 PMID:23143596 NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936492:3,795,940...3,805,822
Ensembl chrNW_004936492:3,795,940...3,805,774 		JBrowse link
G Il3 interleukin 3 ISO DNA: SNPs: Multiple: gene-gene interaction RGD PMID:20018070 RGD:5686905 NCBI chrNW_004936647:3,102,922...3,104,758 JBrowse link
G Il4r interleukin 4 receptor severity ISO DNA:SNP: :rs1805010 (human) RGD PMID:24782180 RGD:10402783 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22293286 RGD:5687156 NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 PMID:22450443 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16729287 PMID:23143596 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO CTD Direct Evidence: marker/mechanism
OMIM:180300		 CTD
MouseDO		 PMID:20453842 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667 NCBI chrNW_004936579:6,138,372...6,149,531
Ensembl chrNW_004936579:6,138,281...6,145,205 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936641:2,608,109...2,622,446
Ensembl chrNW_004936641:2,608,100...2,622,409 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936509:2,508,446...2,587,643
Ensembl chrNW_004936509:2,508,375...2,587,669 		JBrowse link
G Itpa inosine triphosphatase treatment ISO DNA:SNP: :94C>A(human) RGD PMID:29441893 RGD:14975307 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21510883 RGD:6483024 NCBI chrNW_004936503:111,722...243,627
Ensembl chrNW_004936503:110,963...241,867 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chrNW_004936473:12,341,545...12,415,637
Ensembl chrNW_004936473:12,344,343...12,417,875 		JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human)
CTD Direct Evidence: marker/mechanism
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)		 RGD
CTD		 PMID:21784728 PMID:23143596 PMID:23378462 RGD:12793072 RGD:12793073 NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		JBrowse link
G Kmt2c lysine methyltransferase 2C treatment ISO RGD PMID:33914205 RGD:151356764 NCBI chrNW_004936527:7,310,885...7,508,032
Ensembl chrNW_004936527:7,312,721...7,506,365 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554268 NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221 		JBrowse link
G Lhx2 LIM homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936487:12,395,817...12,413,860
Ensembl chrNW_004936487:12,395,812...12,414,003 		JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A susceptibility ISO DNA:polymorphism:exon:p.F158V(rs396991)(human)
DNA:CNVs
protein:decreased expression:NK cell		 RGD PMID:15334114 PMID:19019892 PMID:25154742 RGD:11344974 RGD:5508391 RGD:5508467 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 PMID:22286218 NCBI chrNW_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145 		JBrowse link
G LOC101964209 C-C chemokine receptor type 1 ISO RGD PMID:12860725 RGD:5688170 NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186 		JBrowse link
G LOC101964975 interleukin-8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 PMID:19192274 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		JBrowse link
G LOC101966992 cytochrome b-245 heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24313545 NCBI chrNW_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904 		JBrowse link
G LOC101968486 HLA class II histocompatibility antigen, DQ alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936727:373,464...378,784 JBrowse link
G LOC101971458 tyrosine-protein kinase ZAP-70 ISO OMIM:180300 MouseDO NCBI chrNW_004936744:1,000,105...1,012,712
Ensembl chrNW_004936744:1,000,105...1,012,433 		JBrowse link
G LOC101975630 solute carrier family 22 member 4 susceptibility ISO ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition OMIM
ClinVar		 PMID:14608356 PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936647:2,825,814...2,874,786
Ensembl chrNW_004936647:2,825,814...2,874,774 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO RGD PMID:17082220 RGD:5508419 NCBI chrNW_004936607:628,469...761,117
Ensembl chrNW_004936607:626,991...761,123 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chrNW_004936648:2,653,252...2,671,453 JBrowse link
G Mab21l2 mab-21 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936689:694,119...696,840
Ensembl chrNW_004936689:695,172...696,251 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936679:2,373,104...2,379,230 JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chrNW_004936497:9,512,350...9,619,250
Ensembl chrNW_004936497:9,545,907...9,619,267 		JBrowse link
G Mbd4 methyl-CpG binding domain 4, DNA glycosylase susceptibility
no_association		 ISO DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human)
DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human)		 RGD PMID:20676650 PMID:22505706 RGD:9588977 RGD:9588978 NCBI chrNW_004936602:968,159...980,452
Ensembl chrNW_004936602:956,784...967,884 		JBrowse link
G Mdk midkine ISO RGD PMID:15146411 RGD:1581200 NCBI chrNW_004936562:2,687,825...2,690,292
Ensembl chrNW_004936562:2,687,825...2,689,484 		JBrowse link
G Mgarp mitochondria localized glutamic acid rich protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936535:8,321,443...8,336,773
Ensembl chrNW_004936535:8,320,874...8,336,752 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442 		JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936551:5,188,395...5,197,477 JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936551:5,107,567...5,117,843
Ensembl chrNW_004936551:5,106,285...5,117,843 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO OMIM:180300 MouseDO NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chrNW_004936551:5,228,950...5,238,948
Ensembl chrNW_004936551:5,228,950...5,238,948 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 PMID:26001728 NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :677C>T(human)		 CTD
RGD		 PMID:22104130 PMID:23685257 RGD:7387222 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 induced ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:M153T (rat)		 CTD
RGD		 PMID:12833524 PMID:21275845 PMID:28135245 RGD:41404729 NCBI chrNW_004936543:3,617,369...3,630,990
Ensembl chrNW_004936543:3,617,372...3,630,997 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism, SNP:cds (rs789181) (human)		 CTD
RGD		 PMID:12833524 PMID:17897462 RGD:41404710 NCBI chrNW_004936481:6,300,894...6,325,878
Ensembl chrNW_004936481:6,301,012...6,324,787 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO DNA:polymorphism, SNP:cds (rs729749) (human) RGD PMID:17897462 RGD:41404710 NCBI chrNW_004936492:4,001,711...4,015,253
Ensembl chrNW_004936492:4,001,898...4,010,456 		JBrowse link
G Ndufa4l2 NDUFA4 mitochondrial complex associated like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936646:1,428,025...1,430,215 JBrowse link
G Nfkbie NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chrNW_004936476:15,818,605...15,825,558
Ensembl chrNW_004936476:15,818,554...15,826,327 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 susceptibility ISO ClinVar Annotator: match by term: Rheumatoid arthritis OMIM
ClinVar		 PMID:12509789 NCBI chrNW_004936727:1,950,356...1,963,847
Ensembl chrNW_004936727:1,950,057...1,963,245 		JBrowse link
G Notch4 notch receptor 4 ISO mRNA : increased expression: : cd4+ cells RGD PMID:20132067 RGD:6480790 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:20179762 RGD:4891930 NCBI chrNW_004936478:10,352,894...10,542,949
Ensembl chrNW_004936478:10,352,741...10,544,102 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:increased expression:paw RGD PMID:18448865 RGD:4892311 NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4 group A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936524:8,252,321...8,290,747
Ensembl chrNW_004936524:8,252,381...8,289,157 		JBrowse link
G Oprm1 opioid receptor mu 1 susceptibility ISO DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) RGD PMID:31309790 RGD:401827955 NCBI chrNW_004936489:6,506,207...6,567,136
Ensembl chrNW_004936489:6,506,207...6,548,946 		JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chrNW_004936474:4,033,703...4,066,468
Ensembl chrNW_004936474:4,033,230...4,088,256 		JBrowse link
G Padi4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:25741868 NCBI chrNW_004936474:4,219,183...4,239,551
Ensembl chrNW_004936474:4,221,672...4,238,599 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:1708827 RGD:6482653 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:17326817 RGD:6482776 NCBI chrNW_004936476:13,609,847...13,646,174
Ensembl chrNW_004936476:13,609,374...13,649,998 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:22011479 RGD:6484117 NCBI chrNW_004936706:840,968...855,552 JBrowse link
G Plb1 phospholipase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24520335 NCBI chrNW_004936493:4,112,632...4,210,882
Ensembl chrNW_004936493:4,112,858...4,232,492 		JBrowse link
G Pld4 phospholipase D family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chrNW_004936621:515,710...523,317
Ensembl chrNW_004936621:515,636...523,359 		JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936491:12,762,421...12,818,249
Ensembl chrNW_004936491:12,762,328...12,818,306 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16055108 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686 NCBI chrNW_004936564:2,594,362...2,690,680
Ensembl chrNW_004936564:2,667,660...2,690,683 		JBrowse link
G Prkcq protein kinase C theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chrNW_004936484:8,048,239...8,166,058
Ensembl chrNW_004936484:8,048,132...8,167,636 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15167967 NCBI chrNW_004936487:10,745,465...10,758,812
Ensembl chrNW_004936487:10,745,327...10,758,823 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11978490 PMID:19192274 PMID:21905970 RGD:5508313 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936470:10,379,855...10,578,531
Ensembl chrNW_004936470:10,379,872...10,578,543 		JBrowse link
G Ptpn2 protein tyrosine phosphatase non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chrNW_004936626:2,390,004...2,472,039
Ensembl chrNW_004936626:2,389,868...2,445,927 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 susceptibility
no_association		 ISO ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis
DNA:SNP::1858C>T (human)		 OMIM
ClinVar
RGD		 PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... RGD:7829746 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936567:5,266,653...5,378,464
Ensembl chrNW_004936567:5,267,615...5,378,258 		JBrowse link
G Pxk PX domain containing serine/threonine kinase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chrNW_004936473:2,587,145...2,635,083
Ensembl chrNW_004936473:2,587,990...2,635,189 		JBrowse link
G Rab8a RAB8A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936596:4,385,788...4,403,393
Ensembl chrNW_004936596:4,385,772...4,403,441 		JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936472:12,634,563...12,671,656
Ensembl chrNW_004936472:12,634,445...12,671,662 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936471:2,152,231...2,222,260
Ensembl chrNW_004936471:2,153,880...2,222,229 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936477:3,354,336...3,445,248
Ensembl chrNW_004936477:3,349,627...3,461,797 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936500:7,942,099...7,950,256
Ensembl chrNW_004936500:7,942,133...7,950,271 		JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503088 PMID:20453842 PMID:23143596 NCBI chrNW_004936491:6,405,493...6,435,096
Ensembl chrNW_004936491:6,405,515...6,436,510 		JBrowse link
G Rgmb repulsive guidance molecule BMP co-receptor b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chrNW_004936523:5,050,765...5,078,777
Ensembl chrNW_004936523:5,050,377...5,078,866 		JBrowse link
G Runx1 RUNX family transcription factor 1 no_association ISO DNA:SNPs: :rs2242720, rs4816502 (human)
DNA:SNP:intron:24658G>C (human)
DNA:SNP: :rs2268277 (human)		 RGD PMID:16821265 PMID:18087673 PMID:18328148 PMID:20018071 RGD:6482836 RGD:6482837 RGD:6482839 RGD:6482840 NCBI chrNW_004936500:7,621,328...7,710,909
Ensembl chrNW_004936500:7,486,954...7,709,504 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
G Sema3c semaphorin 3C ISO protein:increased expression:knee, synovium (human) RGD PMID:15077297 RGD:1580084 NCBI chrNW_004936810:903,306...1,063,024
Ensembl chrNW_004936810:903,304...1,063,024 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 severity ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, deletion: :823C>T, p.D543N (human)
DNA:polymorphism:promoter (human)		 CTD
RGD		 PMID:10719815 PMID:12135431 PMID:16597321 RGD:5684967 RGD:5684971 NCBI chrNW_004936569:888,309...895,991
Ensembl chrNW_004936569:887,742...895,977 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936509:1,994,082...2,077,731
Ensembl chrNW_004936509:1,990,116...2,077,938 		JBrowse link
G Sms spermine synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936624:2,345,573...2,402,157
Ensembl chrNW_004936624:2,346,018...2,401,893 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 PMID:15292528 PMID:24313545 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15761492 RGD:1581382 NCBI chrNW_004936905:148,956...156,023
Ensembl chrNW_004936905:148,945...156,079 		JBrowse link
G Spred2 sprouty related EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936491:10,053,546...10,170,950
Ensembl chrNW_004936491:10,053,545...10,170,976 		JBrowse link
G St6galnac5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 PMID:17568789 NCBI chrNW_004936571:3,815,867...3,971,219
Ensembl chrNW_004936571:3,815,823...3,973,328 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936506:7,196,860...7,235,854
Ensembl chrNW_004936506:7,196,797...7,233,756 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689 		JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936644:1,328,327...1,395,856
Ensembl chrNW_004936644:1,325,713...1,395,923 		JBrowse link
G Supt20h SPT20 homolog, SAGA complex component ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chrNW_004936472:31,119,671...31,129,939 JBrowse link
G Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chrNW_004936489:2,371,953...2,421,882
Ensembl chrNW_004936489:2,372,216...2,424,515 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chrNW_004936553:6,860,435...6,917,796
Ensembl chrNW_004936553:6,860,261...6,885,475 		JBrowse link
G Tagap T cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936489:10,615,324...10,623,720
Ensembl chrNW_004936489:10,615,304...10,624,383 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:9645419 RGD:6482275 NCBI chrNW_004936476:25,913,699...25,923,419
Ensembl chrNW_004936476:25,913,663...25,923,427 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:17379860 NCBI chrNW_004936803:69,296...90,270
Ensembl chrNW_004936803:73,946...90,295 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15700117 RGD:5685020 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chrNW_004936471:29,682,313...29,730,229
Ensembl chrNW_004936471:29,682,947...29,731,031 		JBrowse link
G Tlr1 toll like receptor 1 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:32594150 NCBI chrNW_004936482:6,582,430...6,591,128
Ensembl chrNW_004936482:6,582,584...6,584,971 		JBrowse link
G Tlr2 toll like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		JBrowse link
G Tmpo thymopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chrNW_004936492:14,972,391...15,000,115
Ensembl chrNW_004936492:14,971,968...15,000,060 		JBrowse link
G Tnf tumor necrosis factor treatment
no_association		 ISO DNA:SNP:promoter:-857C>T (human)
mRNA:increased expression:synovial (human)
OMIM:180300
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:SNP:promoter:-238G>A, -308G>A (human)		 RGD
MouseDO
CTD		 PMID:2001072 PMID:8391952 PMID:12563673 PMID:12566094 PMID:22450443 More... RGD:10450537 RGD:12904065 RGD:155663483 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936621:1,891,326...1,903,504 JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649 NCBI chrNW_004936560:5,124,955...5,138,988
Ensembl chrNW_004936560:5,128,843...5,138,345 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:23333834 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chrNW_004936737:1,008,228...1,013,575 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO DNA:SNP:promoter:36G>A (human) RGD PMID:25311255 RGD:12904065 NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921 		JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936588:3,976,492...3,979,825
Ensembl chrNW_004936588:3,976,492...3,979,825 		JBrowse link
G Traf1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:23143596 NCBI chrNW_004936487:9,349,883...9,368,946
Ensembl chrNW_004936487:9,349,483...9,367,045 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chrNW_004936533:1,857,685...1,874,973
Ensembl chrNW_004936533:1,857,666...1,876,120 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 treatment ISO RGD PMID:27049384 RGD:127229930 NCBI chrNW_004936476:18,577,825...18,583,675
Ensembl chrNW_004936476:18,574,381...18,583,647 		JBrowse link
G Txndc5 thioredoxin domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chrNW_004936534:4,679,636...4,706,682
Ensembl chrNW_004936534:4,679,631...4,706,309 		JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chrNW_004936867:722,544...726,595
Ensembl chrNW_004936867:722,514...726,617 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chrNW_004936659:681,463...704,484
Ensembl chrNW_004936659:681,310...702,962 		JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:polymorphism: : RGD PMID:22763757 RGD:11075093 NCBI chrNW_004936550:33,797...42,233
Ensembl chrNW_004936550:34,048...41,840 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor TYROBP treatment ISO RGD PMID:27049384 RGD:127229930 NCBI chrNW_004936570:457,993...460,735
Ensembl chrNW_004936570:458,054...460,579 		JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)		 RGD PMID:21820934 RGD:8158077 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD
RGD		 PMID:16368150 PMID:24387171 RGD:8548659 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Vim vimentin ISO RGD PMID:21792832 RGD:6480508 NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182 		JBrowse link
G Zfp36 ZFP36 ring finger protein ISO OMIM:180300 MouseDO NCBI chrNW_004936661:2,251,148...2,253,527
Ensembl chrNW_004936661:2,250,665...2,253,787 		JBrowse link
Sacroiliac Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Arthritis, sacroiliac ClinVar NCBI chrNW_004936479:19,628,488...20,088,278
Ensembl chrNW_004936479:19,628,940...20,087,250 		JBrowse link
Sacroiliitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:19533139 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		JBrowse link
Salcedo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nail-patella-like renal disease OMIM
ClinVar		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chrNW_004936487:14,513,303...14,587,771
Ensembl chrNW_004936487:14,513,290...14,587,902 		JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chrNW_004936471:38,264,455...38,331,995
Ensembl chrNW_004936471:38,267,703...38,332,218 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome OMIM
ClinVar		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chrNW_004936805:882,296...886,442
Ensembl chrNW_004936805:882,273...886,475 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar PMID:25741868 NCBI chrNW_004936651:1,841,040...1,911,944
Ensembl chrNW_004936651:1,841,054...1,911,944 		JBrowse link
septic arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 CD4 molecule treatment ISO RGD PMID:1730259 RGD:10058962 NCBI chrNW_004936709:997,776...1,022,791
Ensembl chrNW_004936709:997,750...1,022,884 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO RGD PMID:23204180 RGD:41410433 NCBI chrNW_004936663:929,737...959,458
Ensembl chrNW_004936663:929,363...959,668 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome OMIM
ClinVar		 PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More... NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
Sjogren's syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISO OMIM:270150 MouseDO NCBI chrNW_004936500:125,589...137,071
Ensembl chrNW_004936500:125,795...137,056 		JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Bdnf brain derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: RGD PMID:30249485 RGD:14398821
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chrNW_004936523:6,688,153...6,798,184
Ensembl chrNW_004936523:6,686,519...6,798,321 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO OMIM:270150 MouseDO NCBI chrNW_004936490:15,575,764...15,579,766
Ensembl chrNW_004936490:15,575,764...15,579,757 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Crp C-reactive protein ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum: RGD PMID:2353152 PMID:16013223 RGD:9491774 RGD:9491835 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO mRNA:increased expression:salivary gland:
DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) 		RGD PMID:12528117 PMID:16869018 RGD:7421506 RGD:7421519 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Dgkq diacylglycerol kinase theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936477:22,225,624...22,238,825
Ensembl chrNW_004936477:22,225,618...22,238,803 		JBrowse link
G E2f1 E2F transcription factor 1 ISO OMIM:270150 MouseDO NCBI chrNW_004936561:6,894,827...6,901,058
Ensembl chrNW_004936561:6,896,063...6,900,026 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human)
OMIM:270150
protein:decreased expression:lacrimal gland, lymphocyte (mouse)		 RGD
MouseDO		 PMID:9870874 PMID:9890678 PMID:11157873 RGD:8662410 RGD:8662436 RGD:8662451 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753 		JBrowse link
G Gtf2i general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chrNW_004936543:3,521,763...3,611,410
Ensembl chrNW_004936543:3,518,462...3,611,452 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:24941846 RGD:10450595 NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chrNW_004936739:1,135,282...1,144,643
Ensembl chrNW_004936739:1,135,289...1,144,643 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:plasma
protein:increased expression:salivary gland		 RGD PMID:11359451 PMID:15037117 PMID:21589878 RGD:8158122 RGD:8547696 RGD:8547705 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO OMIM:270150 MouseDO NCBI chrNW_004936474:8,758,098...8,759,684
Ensembl chrNW_004936474:8,758,030...8,759,823 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:15584966 PMID:28421993 RGD:14975117 RGD:8142390 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936519:6,166,060...6,180,652
Ensembl chrNW_004936519:6,175,261...6,180,396 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:conjunctiva (human)
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)		 RGD PMID:9646842 PMID:11527941 RGD:8549786 RGD:8549807 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il2 interleukin 2 ISO OMIM:270150 MouseDO NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chrNW_004936591:4,365,598...4,425,053
Ensembl chrNW_004936591:4,365,762...4,425,005 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO OMIM:270150 MouseDO NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332 		JBrowse link
G Il6 interleukin 6 severity ISO DNA:polymorphims:promoter:-174G>C(human)
protein:increased expression:plasma:		 RGD PMID:11426023 RGD:7829718 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936510:11,220,194...11,242,485
Ensembl chrNW_004936510:11,217,024...11,242,667 		JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936493:7,716,424...7,842,818
Ensembl chrNW_004936493:7,738,630...7,842,814 		JBrowse link
G LOC101954950 aromatase ISO OMIM:270150 MouseDO NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910 		JBrowse link
G LOC101958024 mucin-19 ISO OMIM:270150 MouseDO NCBI chrNW_004936607:418,290...443,988 JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G LOC101977070 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936841:274,458...275,148 JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility		 ISO protein:increased expression:saliva, serum
DNA:SNPs: :multiple (human)
DNA:SNP, haplotype:intron: (rs909253) (human)		 RGD PMID:20952683 PMID:22294627 RGD:8548776 RGD:8548787 NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM:270150 MouseDO NCBI chrNW_004936541:1,548,892...1,591,770
Ensembl chrNW_004936541:1,548,875...1,591,833 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:9923658 PMID:15316122 RGD:8547814 RGD:8547858 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO mRNA, protein:increased expression:conjunctival epithelial cell, tear RGD PMID:19122828 RGD:7364772 NCBI chrNW_004936588:5,506,683...5,586,450 JBrowse link
G Muc19 mucin 19, oligomeric ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chrNW_004936816:129,926...159,396 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chrNW_004936543:3,617,369...3,630,990
Ensembl chrNW_004936543:3,617,372...3,630,997 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO OMIM:270150 RGD
MouseDO		 PMID:20696914 RGD:126908016 NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936510:11,076,790...11,198,483
Ensembl chrNW_004936510:11,076,785...11,193,689 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936564:2,594,362...2,690,680
Ensembl chrNW_004936564:2,667,660...2,690,683 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:15933742 PMID:16163373 RGD:11534998 RGD:11534999 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO protein:increased expression:minor salivary gland, salivary ductal epithelium (human) RGD PMID:19016805 RGD:9850137 NCBI chrNW_004936556:4,873,331...4,875,608
Ensembl chrNW_004936556:4,873,331...4,875,608 		JBrowse link
G Satb1 SATB homeobox 1 ISO OMIM:270150 MouseDO NCBI chrNW_004936473:10,906,059...11,001,007
Ensembl chrNW_004936473:10,904,989...11,001,051 		JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chrNW_004936481:17,076,660...17,112,501
Ensembl chrNW_004936481:17,076,536...17,107,963 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO OMIM:270150 MouseDO NCBI chrNW_004936572:2,137,820...2,182,674
Ensembl chrNW_004936572:2,137,332...2,182,742 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 no_association
susceptibility		 ISO DNA:SNP:intron: (rs7574865) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs7582694) (human)		 RGD
CTD		 PMID:18273036 PMID:20360187 PMID:20535138 PMID:24097066 PMID:24097067 RGD:8661690 RGD:8661708 RGD:8661709 NCBI chrNW_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689 		JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO OMIM:270150 RGD
MouseDO		 PMID:7554451 PMID:9358754 RGD:7394829 RGD:7394845 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Thbs1 thrombospondin 1 ISO OMIM:270150 MouseDO NCBI chrNW_004936471:3,064,466...3,081,125
Ensembl chrNW_004936471:3,064,422...3,081,949 		JBrowse link
G Tnf tumor necrosis factor treatment ISO DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762 PMID:24941846 RGD:10450595 RGD:7394766 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chrNW_004936560:5,124,955...5,138,988
Ensembl chrNW_004936560:5,128,843...5,138,345 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004936647:3,914,887...3,959,698
Ensembl chrNW_004936647:3,914,887...3,959,672 		JBrowse link
G Traf3ip2 TRAF3 interacting protein 2 ISO OMIM:270150 MouseDO NCBI chrNW_004936679:308,508...348,561
Ensembl chrNW_004936679:316,277...336,557 		JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chrNW_004936489:5,425,778...5,434,483
Ensembl chrNW_004936489:5,425,726...5,434,785 		JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM
ClinVar		 PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chrNW_004936555:3,639,459...3,807,483
Ensembl chrNW_004936555:3,637,630...3,807,488 		JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G LOC101964975 interleukin-8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936518:5,635,856...5,664,057
Ensembl chrNW_004936518:5,637,331...5,664,778 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
Spondylarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2-microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 no_association ISO RGD PMID:9496154 PMID:15603870 RGD:6483462 RGD:6483495 NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
spondyloarthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO DNA:missense mutation:exon:p.G274S(human) RGD PMID:7866404 RGD:12108857 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO OMIM:106300 MouseDO NCBI chrNW_004937067:194,375...246,607 JBrowse link
G Il27 interleukin 27 ISO RGD PMID:29494633 RGD:14995936 NCBI chrNW_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:9489833 RGD:7829742 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Tnf tumor necrosis factor ISO OMIM:106300 MouseDO NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:29494633 RGD:14995936 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chrNW_004936476:16,483,203...16,487,360
Ensembl chrNW_004936476:16,480,835...16,487,424 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chrNW_004936476:15,826,882...15,830,321
Ensembl chrNW_004936476:15,826,822...15,834,729 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM
ClinVar		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chrNW_004936501:12,670,717...12,683,999
Ensembl chrNW_004936501:12,670,172...12,684,571 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:30284759 NCBI chrNW_004936491:16,056,059...16,633,405
Ensembl chrNW_004936491:16,055,503...16,633,428 		JBrowse link
Stapes Ankylosis with Broad Thumbs and Toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfn1 ankyrin repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes ClinVar NCBI chrNW_004936490:6,341,849...6,494,377
Ensembl chrNW_004936490:6,371,204...6,632,690 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes OMIM
ClinVar		 PMID:9851982 PMID:10069712 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		JBrowse link
stiff skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Stiff skin syndrome OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
synovitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		JBrowse link
Systemic Juvenile Rheumatoid Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chrNW_004936843:658,058...672,662
Ensembl chrNW_004936843:657,979...672,700 		JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:18358927 RGD:10402823 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G Mif macrophage migration inhibitory factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome OMIM
ClinVar		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... NCBI chrNW_004936490:6,262,651...6,264,069
Ensembl chrNW_004936490:6,262,785...6,263,483 		JBrowse link
Temporomandibular Joint Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 severity ISO mRNA:increased expression:temporomandibular joint RGD PMID:18830934 PMID:24316289 RGD:10043104 RGD:10043108 NCBI chrNW_004936640:857,565...899,355
Ensembl chrNW_004936640:858,322...898,182 		JBrowse link
G Becn1 beclin 1 ISO mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chrNW_004936486:14,583,042...15,092,164
Ensembl chrNW_004936486:14,692,532...15,092,307 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chrNW_004936486:8,720,036...8,830,472
Ensembl chrNW_004936486:8,720,036...8,831,075 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Map1lc3a microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chrNW_004936561:6,104,748...6,106,348
Ensembl chrNW_004936561:6,104,742...6,106,699 		JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 ISO protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chrNW_004936508:11,885,066...12,062,560
Ensembl chrNW_004936508:11,884,684...12,064,066 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23386193 RGD:10041017 NCBI chrNW_004936474:158,376...282,310
Ensembl chrNW_004936474:157,590...282,342 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chrNW_004936643:379,790...410,034
Ensembl chrNW_004936643:380,968...409,464 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
Temporomandibular Joint Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A ISO RGD PMID:20589683 RGD:5508377 NCBI chrNW_004937131:42,523...49,533 JBrowse link
Temporomandibular Joint Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chrNW_004937131:170,649...183,942 JBrowse link
G Becn1 beclin 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151 		JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chrNW_004936646:1,665,019...1,669,212 JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression ISO RGD PMID:28147322 RGD:155791443 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chrNW_004936712:413,602...454,443
Ensembl chrNW_004936712:414,446...454,449 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chrNW_004936541:4,613,197...4,705,911
Ensembl chrNW_004936541:4,617,555...4,705,866 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chrNW_004936487:13,348,465...13,352,717
Ensembl chrNW_004936487:13,348,465...13,352,717 		JBrowse link
G Rps6 ribosomal protein S6 ISO RGD PMID:31007149 RGD:34888237 NCBI chrNW_004936652:1,252,986...1,255,987
Ensembl chrNW_004936652:1,253,025...1,255,906 		JBrowse link
Van den Ende-Gupta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Van den Ende-Gupta syndrome OMIM
ClinVar		 PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chrNW_004936619:2,900,536...2,915,306
Ensembl chrNW_004936619:2,903,824...2,914,518 		JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004936842:677,416...697,013
Ensembl chrNW_004936842:677,416...697,003 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome ClinVar PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877 		JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 NCBI chrNW_004936842:677,416...697,013
Ensembl chrNW_004936842:677,416...697,003 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877 		JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877 		JBrowse link
Ventriculomegaly and Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D interacting substrate 220 ISO ClinVar Annotator: match by term: KIDINS220-related condition | ClinVar Annotator: match by term: Ventriculomegaly and arthrogryposis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28934391 More... NCBI chrNW_004936532:5,270,338...5,368,160
Ensembl chrNW_004936532:5,272,149...5,362,814 		JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-cinotti syndrome OMIM
ClinVar		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chrNW_004936635:2,580,693...2,690,297
Ensembl chrNW_004936635:2,588,510...2,641,616 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chrNW_004936635:2,924,632...2,954,003
Ensembl chrNW_004936635:2,924,601...2,953,854 		JBrowse link
Wiedemann-Steiner syndrome 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 chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chrNW_004936475:7,830,544...7,889,437
Ensembl chrNW_004936475:7,830,506...7,889,151 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome OMIM
ClinVar		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 OMIM
ClinVar		 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936754:1,067,900...1,111,568
Ensembl chrNW_004936754:1,067,854...1,110,305 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
X-linked Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpkow G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence ClinVar NCBI chrNW_004936721:1,013,776...1,031,018
Ensembl chrNW_004936721:1,011,492...1,031,440 		JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chrNW_004936502:12,961,236...12,984,235
Ensembl chrNW_004936502:12,969,145...12,984,238 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chrNW_004936635:2,924,632...2,954,003
Ensembl chrNW_004936635:2,924,601...2,953,854 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        bone disease 3672
          bone inflammation disease 1238
            Caffey disease + 5
            Osgood-Schlatter's disease 0
            arthritis + 810
            arthropathy + 1218
            epicondylitis 0
            osteomyelitis + 21
            secondary hypertrophic osteoarthropathy 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        connective tissue disease 5008
          bone disease 3672
            bone inflammation disease 1238
              Caffey disease + 5
              Osgood-Schlatter's disease 0
              arthritis + 810
              arthropathy + 1218
              epicondylitis 0
              osteomyelitis + 21
              secondary hypertrophic osteoarthropathy 0
paths to the root