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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:arthropathy
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Accession:DOID:381 term browser browse the term
Definition:A bone disease that is located_in the joint. (DO)
Synonyms:exact_synonym: Arthrosis;   Infectious arthropathy;   Joint Disease;   arthropathies;   arthroses;   joint diseases
 narrow_synonym: ankylosis of ankle and foot joint;   ankylosis of forearm joint;   ankylosis of hand joint;   ankylosis of joint of ankle and/or foot;   ankylosis of joint of forearm;   ankylosis of joint of hand;   ankylosis of joint of lower leg;   ankylosis of joint of multiple sites;   ankylosis of joint of pelvic region and thigh;   ankylosis of joint of shoulder region;   ankylosis of joint of upper arm;   ankylosis of lower leg joint;   ankylosis of multiple joints;   ankylosis of upper arm joint;   joint ankylosis of the ankle and foot;   joint ankylosis of the ankle and/or foot;   joint ankylosis of the forearm;   joint ankylosis of the hand;   joint ankylosis of the lower leg;   joint ankylosis of the pelvic region and thigh;   joint ankylosis of the shoulder region;   joint ankylosis of the upper arm;   vertebral joint disease
 primary_id: MESH:D007592
 alt_id: DOID:9003266
 xref: EFO:0009477;   EFO:1000999;   ICD10CM:M00-M02;   ICD10CM:M12.9;   ICD9CM:711;   ICD9CM:719.90;   NCI:C35760;   NCI:C78402
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN6 cellular communication network factor 6 IAGP PPAC, OMIM:208230 RGD PMID:10471507 RGD:1599850 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G LTF lactotransferrin EXP CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234 		JBrowse link
G TBX4 T-box transcription factor 4 susceptibility IAGP Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X RGD PMID:15106123 RGD:1601422 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
adult-onset Still's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor IEP protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ANO6 anoctamin 6 severity IAGP
EXP		 DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr12:45,216,095...45,440,404
Ensembl chr12:45,215,987...45,482,280 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G ASPN asporin susceptibility IAGP DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G CARD9 caspase recruitment domain family member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CRP C-reactive protein disease_progression IEP protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703 		JBrowse link
G FCGR3A Fc gamma receptor IIIa severity IEP protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility
no_association		 IAGP
EXP		 DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B2705 (human)		 CTD
RGD		 PMID:8053961 PMID:21743469 PMID:22138694 PMID:8733445 PMID:21927904 RGD:7364914, RGD:10755579 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 severity IAGP DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL17A interleukin 17A treatment IMP RGD PMID:24035250 RGD:9068448 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544 		JBrowse link
G IL23R interleukin 23 receptor no_association IAGP
EXP		 DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)		 CTD
RGD		 PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G JAK2 Janus kinase 2 susceptibility IAGP DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KDM5A lysine demethylase 5A susceptibility IAGP DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PGF placental growth factor IEP RGD PMID:21873332 RGD:6483576 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G PTGER4 prostaglandin E receptor 4 IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G RUNX3 RUNX family transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TBKBP1 TBK1 binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr17:47,694,063...47,712,063
Ensembl chr17:47,694,161...47,712,052 		JBrowse link
G THBD thrombomodulin IEP protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TLR4 toll like receptor 4 IEP mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR5 toll like receptor 5 IEP mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IDA RGD PMID:21317434 RGD:5131280 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G VIP vasoactive intestinal peptide IEP protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765 		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 chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9605588 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		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 chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:23291307 RGD:8549476 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta treatment ISO associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G GRP gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:59,219,189...59,230,771
Ensembl chr18:59,220,158...59,230,774 		JBrowse link
G GSN gelsolin disease_progression IEP protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		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 chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		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 chr16:31,090,854...31,094,797
Ensembl chr16:31,090,842...31,095,980 		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 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome		 CTD
ClinVar
MouseDO		 PMID:20190753 PMID:25741868 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated EXP
ISS
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome		 CTD
MouseDO
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		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 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP
EXP		 ClinVar Annotator: match by term: Arterial tortuosity syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G MVK mevalonate kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Arthralgia ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Arthralgias ClinVar PMID:24449199 PMID:28492532 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		JBrowse link
arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISO RGD PMID:10894769 RGD:734569 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G B2M beta-2-microglobulin IMP RGD PMID:16575857 RGD:6482692 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G CD40 CD40 molecule IAGP associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) RGD PMID:23256180 RGD:7248721 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD69 CD69 molecule EXP CTD Direct Evidence: therapeutic CTD PMID:12882836 NCBI chr12:9,752,486...9,760,901
Ensembl chr12:9,752,486...9,760,901 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO RGD PMID:18075852 RGD:2316223 NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362 		JBrowse link
G COL2A1 collagen type II alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:17299831 PMID:24144632 PMID:26640276 PMID:36121554 PMID:37358659 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COPA COPI coat complex subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12673791 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRP C-reactive protein IAGP associated with Lupus Erythematosus, Systemic;DNA:SNP RGD PMID:17596285 RGD:5508454 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IAGP associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human)
DNA:SNP:exon:F158V (rs396991)(human)		 RGD PMID:19026120 PMID:19005160 RGD:5508432, RGD:5508443 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G GC GC vitamin D binding protein susceptibility IAGP associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) RGD PMID:21844150 RGD:5509918 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HP haptoglobin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IL23R interleukin 23 receptor susceptibility IAGP associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) RGD PMID:19035472 RGD:8549572 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IRF5 interferon regulatory factor 5 ISO RGD PMID:32743529 RGD:40924631 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G LOC129930561 ATAC-STARR-seq lymphoblastoid silent region 902 IAGP ClinVar Annotator: match by term: Arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12673791 More... NCBI chr 1:53,196,808...53,197,167 JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 IAGP associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) RGD PMID:16461442 RGD:1601085 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G SELE selectin E ISO RGD PMID:16207337 RGD:1580041 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705 		JBrowse link
G SYK spleen associated tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G TLR4 toll like receptor 4 susceptibility IAGP associated with Behcet Syndrome;DNA:haplotype: : RGD PMID:19395541 RGD:7777177 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G ZFP36 ZFP36 ring finger protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr19:39,406,847...39,409,407
Ensembl chr19:39,406,847...39,409,407 		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 IAGP ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:22575033 PMID:28492532 More... NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 PMID:36945405 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:26004201 PMID:26752647 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,851,781...34,075,325
Ensembl chr15:33,858,782...34,075,155 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31694722 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28317099 PMID:31230720 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 PMID:36945405 NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505 		JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G PRG4 proteoglycan 4 IAGP ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP 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:2567381 PMID:19454545 PMID:20839240 PMID:21911697 PMID:22473935 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G RYR3-DT RYR3 divergent transcript IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,303,657...33,310,659
Ensembl chr15:33,293,492...33,310,696 		JBrowse link
G SENP7 SUMO specific peptidase 7 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr 3:101,324,205...101,513,212
Ensembl chr 3:101,324,205...101,513,241 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita		 ClinVar
RGD		 PMID:25741868 PMID:12592607 RGD:1599481 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TPM2 tropomyosin 2 IAGP 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 chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
ClinVar Annotator: match by term: LGI4-related condition
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 chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type ClinVar PMID:25741868 PMID:27782104 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G LOC126859837 BRD4-independent group 4 enhancer GRCh37_chr6:152630775-152631974 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE		 ClinVar PMID:24838835 PMID:25741868 PMID:26467025 PMID:27086870 PMID:27178001 More... NCBI chr 6:152,309,640...152,310,839 JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type
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 chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE1-AS1 SYNE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type ClinVar PMID:25741868 NCBI chr 6:152,380,530...152,381,713
Ensembl chr 6:152,380,489...152,381,777 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:31960134 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO Coat colour, albinism, oculocutaneous type IV OMIA PMID:24647637 PMID:25790827 PMID:28737247 PMID:34751460 PMID:35510419 More... NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693 		JBrowse link
arthrogryposis multiplex congenita-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130002772 ATAC-STARR-seq lymphoblastoid active region 29122 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 ClinVar PMID:25741868 NCBI chr 9:129,824,021...129,824,330 JBrowse link
G TOR1A torsin family 1 member A IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 ClinVar
OMIM		 PMID:9288096 PMID:11523564 PMID:17503336 PMID:18519876 PMID:18827015 More... NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
arthrogryposis multiplex congenita-6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806373 BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 ClinVar PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 2:151,553,493...151,554,692 JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 OMIM
ClinVar		 PMID:9536098 PMID:12207938 PMID:15221447 PMID:15336686 PMID:16199547 More... NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 ClinVar PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 More... NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013 		JBrowse link
arthrogryposis multiplex congenita-7, X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THOC2 THO complex subunit 2 IAGP OMIM NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar Annotator: match by term: PPP3CA-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		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 and 4-alpha-glucanotransferase IAGP ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome ClinVar PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 More... NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy ClinVar
OMIM		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP 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 chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM
ClinVar		 PMID:20190753 PMID:25741868 PMID:28492532 PMID:31479177 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		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) IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,204,875...159,206,500 		JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,184,302...161,199,054
Ensembl chr 1:161,184,302...161,199,054 		JBrowse link
G AIM2 absent in melanoma 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,055,051...159,147,132
Ensembl chr 1:159,056,129...159,187,843 		JBrowse link
G APCS amyloid P component, serum IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865 		JBrowse link
G APOA2 apolipoprotein A2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631 		JBrowse link
G ARHGAP30 Rho GTPase activating protein 30 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,046,946...161,069,891
Ensembl chr 1:161,046,946...161,069,970 		JBrowse link
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980 		JBrowse link
G B4GALT3 beta-1,4-galactosyltransferase 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,171,310...161,177,968
Ensembl chr 1:161,171,310...161,177,968 		JBrowse link
G C1orf226 chromosome 1 open reading frame 226 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,378,841...162,386,812
Ensembl chr 1:162,378,841...162,386,812 		JBrowse link
G CADM3 cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		JBrowse link
G CASQ1 calsequestrin 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886 		JBrowse link
G CD244 CD244 molecule IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887 		JBrowse link
G CD48 CD48 molecule IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,678,746...160,711,822
Ensembl chr 1:160,678,746...160,711,831 		JBrowse link
G CD84 CD84 molecule IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,541,098...160,579,496
Ensembl chr 1:160,541,095...160,579,516 		JBrowse link
G CFAP126 cilia and flagella associated protein 126 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,364,733...161,367,876
Ensembl chr 1:161,364,733...161,367,876 		JBrowse link
G CFAP45 cilia and flagella associated protein 45 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165 		JBrowse link
G COPA COPI coat complex subunit alpha IAGP
ISS		 ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease
OMIM:616414		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27048656 More... NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566 		JBrowse link
G CRP C-reactive protein IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G DCAF8 DDB1 and CUL4 associated factor 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,215,720...160,262,549
Ensembl chr 1:160,215,715...160,262,549 		JBrowse link
G DCAF8-DT DCAF8 divergent transcript IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,261,749...160,262,778
Ensembl chr 1:160,261,682...160,281,935 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DEDD death effector domain containing IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,120,974...161,132,667
Ensembl chr 1:161,120,974...161,132,688 		JBrowse link
G DUSP12 dual specificity phosphatase 12 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,749,786...161,757,238
Ensembl chr 1:161,749,758...161,757,238 		JBrowse link
G DUSP23 dual specificity phosphatase 23 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,780,962...159,782,543
Ensembl chr 1:159,780,932...159,782,543 		JBrowse link
G F11R F11 receptor IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,995,211...161,021,152
Ensembl chr 1:160,995,211...161,021,175 		JBrowse link
G FCER1A Fc epsilon receptor Ia IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,283,575...159,308,202
Ensembl chr 1:159,289,714...159,308,224 		JBrowse link
G FCER1G Fc epsilon receptor Ig IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,215,295...161,219,245
Ensembl chr 1:161,215,234...161,220,699 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662 		JBrowse link
G FCGR3A Fc gamma receptor IIIa IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G FCRL6 Fc receptor like 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,800,512...159,816,257
Ensembl chr 1:159,800,511...159,816,257 		JBrowse link
G FCRLA Fc receptor like A IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,707,229...161,714,352
Ensembl chr 1:161,706,972...161,714,352 		JBrowse link
G FCRLB Fc receptor like B IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,721,544...161,728,143
Ensembl chr 1:161,721,544...161,728,143 		JBrowse link
G HSPA6 heat shock protein family A (Hsp70) member 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,524,540...161,526,894
Ensembl chr 1:161,524,540...161,526,894 		JBrowse link
G IFI16 interferon gamma inducible protein 16 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,999,976...159,055,151
Ensembl chr 1:158,999,968...159,055,155 		JBrowse link
G IGSF8 immunoglobulin superfamily member 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,091,339...160,099,468
Ensembl chr 1:160,091,340...160,098,943 		JBrowse link
G IGSF9 immunoglobulin superfamily member 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,927,041...159,945,613
Ensembl chr 1:159,927,039...159,945,613 		JBrowse link
G ITLN1 intelectin 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,876,540...160,885,180
Ensembl chr 1:160,876,540...160,885,180 		JBrowse link
G ITLN2 intelectin 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,945,025...160,954,809
Ensembl chr 1:160,945,025...160,954,809 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,081,538...160,090,563
Ensembl chr 1:160,081,538...160,090,563 		JBrowse link
G KLHDC9 kelch domain containing 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,098,361...161,100,346
Ensembl chr 1:161,098,361...161,100,346 		JBrowse link
G LY9 lymphocyte antigen 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,796,174...160,828,255
Ensembl chr 1:160,796,074...160,828,483 		JBrowse link
G MNDA myeloid cell nuclear differentiation antigen IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,831,351...158,849,502
Ensembl chr 1:158,831,351...158,849,506 		JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G NCSTN nicastrin IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NECTIN4 nectin cell adhesion molecule 4 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,070,998...161,089,558
Ensembl chr 1:161,070,998...161,089,558 		JBrowse link
G NHLH1 nescient helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,367,071...160,372,846
Ensembl chr 1:160,367,071...160,372,846 		JBrowse link
G NIT1 nitrilase 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,118,105...161,125,445
Ensembl chr 1:161,118,086...161,125,445 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,792,139...53,824,403 		JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,229,669...161,238,203
Ensembl chr 1:161,229,666...161,238,244 		JBrowse link
G OLFML2B olfactomedin like 2B IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,983,192...162,023,869
Ensembl chr 1:161,983,192...162,023,869 		JBrowse link
G OR10J1 olfactory receptor family 10 subfamily J member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,397,465...159,440,967
Ensembl chr 1:159,437,845...159,443,078 		JBrowse link
G OR10J3 olfactory receptor family 10 subfamily J member 3 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,313,570...159,314,759
Ensembl chr 1:159,313,720...159,314,659 		JBrowse link
G OR10J5 olfactory receptor family 10 subfamily J member 5 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,535,078...159,536,007
Ensembl chr 1:159,535,078...159,536,007 		JBrowse link
G OR6K2 olfactory receptor family 6 subfamily K member 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,699,678...158,700,652
Ensembl chr 1:158,699,678...158,700,652 		JBrowse link
G OR6K3 olfactory receptor family 6 subfamily K member 3 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,716,327...158,725,120
Ensembl chr 1:158,716,327...158,720,720 		JBrowse link
G OR6K6 olfactory receptor family 6 subfamily K member 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,754,720...158,755,891
Ensembl chr 1:158,754,720...158,755,891 		JBrowse link
G OR6N1 olfactory receptor family 6 subfamily N member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,764,236...158,840,396
Ensembl chr 1:158,747,814...158,772,195 		JBrowse link
G OR6N2 olfactory receptor family 6 subfamily N member 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,774,222...158,781,204
Ensembl chr 1:158,774,222...158,781,204 		JBrowse link
G PCP4L1 Purkinje cell protein 4 like 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,258,745...161,285,450
Ensembl chr 1:161,258,745...161,285,450 		JBrowse link
G PEA15 proliferation and apoptosis adaptor protein 15 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,205,384...160,215,372
Ensembl chr 1:160,205,380...160,215,376 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PFDN2 prefoldin subunit 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,100,561...161,118,037
Ensembl chr 1:161,100,556...161,118,055 		JBrowse link
G PIGM phosphatidylinositol glycan anchor biosynthesis class M IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
G PYHIN1 pyrin and HIN domain family member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,931,552...158,990,870
Ensembl chr 1:158,930,796...158,977,059 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SH2D1B SH2 domain containing 1B IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,395,268...162,412,136
Ensembl chr 1:162,395,268...162,412,138 		JBrowse link
G SLAMF1 signaling lymphocytic activation molecule family member 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,608,106...160,647,044
Ensembl chr 1:160,608,106...160,647,044 		JBrowse link
G SLAMF6 SLAM family member 6 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,485,036...160,523,255
Ensembl chr 1:160,485,030...160,523,262 		JBrowse link
G SLAMF7 SLAM family member 7 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,739,057...160,754,821
Ensembl chr 1:160,739,057...160,754,821 		JBrowse link
G SLAMF8 SLAM family member 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,826,873...159,837,492
Ensembl chr 1:159,826,811...159,837,492 		JBrowse link
G SLAMF9 SLAM family member 9 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,951,492...159,983,984
Ensembl chr 1:159,951,492...159,954,237 		JBrowse link
G SNHG28 small nucleolar RNA host gene 28 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,834,478...159,855,037
Ensembl chr 1:159,834,480...159,855,071 		JBrowse link
G SPATA46 spermatogenesis associated 46 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,373,203...162,376,854
Ensembl chr 1:162,373,203...162,376,854 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G TAGLN2 transgelin 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,918,111...159,925,507
Ensembl chr 1:159,918,107...159,925,507 		JBrowse link
G TOMM40L translocase of outer mitochondrial membrane 40 like IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,226,060...161,230,746
Ensembl chr 1:161,225,939...161,230,746 		JBrowse link
G TSTD1 thiosulfate sulfurtransferase like domain containing 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,037,631...161,038,964
Ensembl chr 1:161,037,631...161,038,977 		JBrowse link
G UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,561,531...162,601,240
Ensembl chr 1:162,561,722...162,601,240 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UHMK1 U2AF homology motif kinase 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:162,497,174...162,529,631
Ensembl chr 1:162,497,251...162,529,631 		JBrowse link
G USF1 upstream transcription factor 1 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,039,251...161,045,977
Ensembl chr 1:161,039,251...161,045,977 		JBrowse link
G USP21 ubiquitin specific peptidase 21 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:161,159,500...161,165,723
Ensembl chr 1:161,159,450...161,165,723 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
G VSIG8 V-set and immunoglobulin domain containing 8 IAGP ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr 1:159,854,316...159,862,657
Ensembl chr 1:159,854,316...159,862,657 		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 IAGP ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis ClinVar
OMIM		 PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		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 IAGP ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: UMOD-related condition
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-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease
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
ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: UMOD-related condition
ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: Uromodulin-associated kidney disease		 ClinVar
OMIM
RGD		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... RGD:737832 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP
ISS
EXP		 ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
OMIM:158810
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
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 chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
ClinVar Annotator: match by term: Bethlem myopathy		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G LOC126806573 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:238233151-238234350 IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:25741868 PMID:26004199 PMID:26467025 PMID:26566670 More... NCBI chr 2:237,324,508...237,325,707 JBrowse link
Bethlem Myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC105760.1 novel transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:237,048,599...237,056,167
Ensembl chr 2:237,048,599...237,056,167 		JBrowse link
G ACKR3 atypical chemokine receptor 3 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,537,122...236,582,354
Ensembl chr 2:236,567,787...236,582,354 		JBrowse link
G AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:235,494,043...236,131,793
Ensembl chr 2:235,494,043...236,131,793 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,468,632...240,561,064
Ensembl chr 2:240,479,422...240,569,209 		JBrowse link
G ANO7 anoctamin 7 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,188,677...241,240,308
Ensembl chr 2:241,188,509...241,225,976 		JBrowse link
G AQP12A aquaporin 12A IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,691,866...240,698,483
Ensembl chr 2:240,691,866...240,698,483 		JBrowse link
G AQP12B aquaporin 12B IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,676,418...240,683,810
Ensembl chr 2:240,676,418...240,682,906 		JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,426,927...238,452,250
Ensembl chr 2:238,426,742...238,452,250 		JBrowse link
G ASB18 ankyrin repeat and SOCS box containing 18 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,193,459...236,264,406
Ensembl chr 2:236,193,459...236,264,409 		JBrowse link
G ATG4B autophagy related 4B cysteine peptidase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,637,693...241,673,857
Ensembl chr 2:241,637,213...241,673,857 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,551,393...241,574,131
Ensembl chr 2:241,551,424...241,574,131 		JBrowse link
G CAPN10 calpain 10 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility IAGP Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A		 ClinVar
OMIM
RGD		 PMID:963533 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 More... RGD:1600934 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility IAGP Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A		 ClinVar
RGD		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A2-DT COL6A2 divergent transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:21280092 PMID:23326386 PMID:28492532 NCBI chr21:46,091,896...46,097,645 JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A		 ClinVar PMID:3352914 PMID:3564626 PMID:7695699 PMID:8218237 PMID:8817344 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COPS8 COP9 signalosome subunit 8 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,085,889...237,100,474
Ensembl chr 2:237,085,882...237,100,474 		JBrowse link
G COPS8-DT COPS8 divergent transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:236,910,771...237,085,821
Ensembl chr 2:236,910,797...237,085,838
Ensembl chr 2:236,910,797...237,085,838 		JBrowse link
G COPS9 COP9 signalosome subunit 9 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,126,548...240,136,347
Ensembl chr 2:240,126,563...240,136,807 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944 		JBrowse link
G DUSP28 dual specificity phosphatase 28 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,560,054...240,565,256
Ensembl chr 2:240,560,054...240,565,256 		JBrowse link
G ERFE erythroferrone IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,158,970...238,168,890
Ensembl chr 2:238,158,970...238,168,900 		JBrowse link
G ESPNL espin like IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,100,340...238,133,287
Ensembl chr 2:238,100,340...238,133,287 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,356,285...241,494,841
Ensembl chr 2:241,356,285...241,494,841 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: Bethlem myopathy 1A		 ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,776,822...241,804,287
Ensembl chr 2:241,776,822...241,804,287 		JBrowse link
G GBX2 gastrulation brain homeobox 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,161,340...236,168,386
Ensembl chr 2:236,165,236...236,168,386 		JBrowse link
G GPC1 glypican 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,435,663...240,468,076
Ensembl chr 2:240,435,663...240,468,076 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HDLBP high density lipoprotein binding protein IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061 		JBrowse link
G HES6 hes family bHLH transcription factor 6 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,238,267...238,240,038
Ensembl chr 2:238,238,267...238,240,662 		JBrowse link
G ILKAP ILK associated serine/threonine phosphatase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,170,402...238,203,695
Ensembl chr 2:238,170,402...238,203,708 		JBrowse link
G ING5 inhibitor of growth family member 5 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,687,020...241,729,478
Ensembl chr 2:241,687,085...241,729,478 		JBrowse link
G IQCA1 IQ motif containing with AAA domain 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,306,685...236,507,476
Ensembl chr 2:236,324,147...236,507,535 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KLHL30 kelch like family member 30 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,138,668...238,152,947
Ensembl chr 2:238,138,668...238,152,947 		JBrowse link
G LOC110121230 VISTA enhancer hs1951 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:237,313,177...237,316,630 JBrowse link
G LOC112840913 Sharpr-MPRA regulatory region 9900 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:236,968,106...236,968,400 JBrowse link
G LOC121853033 Sharpr-MPRA regulatory region 12001 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:21280092 PMID:23326386 PMID:28492532 NCBI chr21:46,097,935...46,098,229 JBrowse link
G LOC122889010 Sharpr-MPRA regulatory region 6837 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:236,918,586...236,918,880 JBrowse link
G LOC122889011 Sharpr-MPRA regulatory region 1020 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 2:237,359,226...237,359,520 JBrowse link
G LOC126806571 MED14-independent group 3 enhancer GRCh37_chr2:237488204-237489403 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:236,579,561...236,580,760 JBrowse link
G LOC126806572 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:238092630-238093829 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:237,183,987...237,185,186 JBrowse link
G LOC126806573 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:238233151-238234350 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A		 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26004199 More... NCBI chr 2:237,324,508...237,325,707 JBrowse link
G LOC129935916 ATAC-STARR-seq lymphoblastoid active region 17363 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:237,059,381...237,059,490 JBrowse link
G LOC129935917 ATAC-STARR-seq lymphoblastoid active region 17364 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:28492532 NCBI chr 2:237,061,028...237,061,077 JBrowse link
G LOC130066866 ATAC-STARR-seq lymphoblastoid active region 18597 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:21280092 PMID:23326386 PMID:28492532 NCBI chr21:46,057,309...46,057,368 JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,627,587...237,781,643
Ensembl chr 2:237,627,587...237,813,682 		JBrowse link
G MAB21L4 mab-21 like 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,886,048...240,896,839
Ensembl chr 2:240,886,048...240,896,889 		JBrowse link
G MIR149 microRNA 149 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,456,001...240,456,089
Ensembl chr 2:240,456,001...240,456,089 		JBrowse link
G MLPH melanophilin IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322 		JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,042,586...241,102,287
Ensembl chr 2:241,072,169...241,102,332 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743 		JBrowse link
G NEU4 neuraminidase 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,809,193...241,817,413
Ensembl chr 2:241,809,065...241,817,413 		JBrowse link
G OR6B2 olfactory receptor family 6 subfamily B member 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,029,491...240,030,429
Ensembl chr 2:240,029,491...240,030,429 		JBrowse link
G OR6B3 olfactory receptor family 6 subfamily B member 3 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,044,571...240,053,521
Ensembl chr 2:240,044,571...240,053,521 		JBrowse link
G OTOS otospiralin IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,139,026...240,140,658
Ensembl chr 2:240,139,026...240,144,562 		JBrowse link
G PASK PAS domain containing serine/threonine kinase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,106,099...241,150,347
Ensembl chr 2:241,106,099...241,150,264 		JBrowse link
G PDCD1 programmed cell death 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PER2 period circadian regulator 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,149,573...241,183,652
Ensembl chr 2:241,149,576...241,183,652 		JBrowse link
G PRLH prolactin releasing hormone IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,566,574...237,567,175
Ensembl chr 2:237,566,574...237,567,175 		JBrowse link
G PRR21 proline rich 21 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,041,813...240,042,982 JBrowse link
G RAB17 RAB17, member RAS oncogene family IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,574,326...237,590,734
Ensembl chr 2:237,574,322...237,601,614 		JBrowse link
G RAMP1 receptor activity modifying protein 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,858,880...237,912,106
Ensembl chr 2:237,858,893...237,912,106 		JBrowse link
G RBM44 RNA binding motif protein 44 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,798,779...237,842,805
Ensembl chr 2:237,798,389...237,842,808 		JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,568,484...240,581,372
Ensembl chr 2:240,565,804...240,581,372 		JBrowse link
G SCLY selenocysteine lyase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,061,001...238,099,413
Ensembl chr 2:238,060,924...238,099,413 		JBrowse link
G SEPTIN2 septin 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,315,355...241,354,027
Ensembl chr 2:241,315,100...241,354,027 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,997,650...241,095,568
Ensembl chr 2:240,998,618...241,095,568 		JBrowse link
G STK25 serine/threonine kinase 25 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,492,670...241,509,572
Ensembl chr 2:241,492,670...241,509,730 		JBrowse link
G THAP4 THAP domain containing 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,584,405...241,637,576
Ensembl chr 2:241,584,405...241,637,158 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) IAGP ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,967,014...238,042,782
Ensembl chr 2:237,966,827...238,042,782 		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 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 More... NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		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 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		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 IAGP ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27348394 PMID:28306225 More... NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G LOC126859712 MED14-independent group 3 enhancer GRCh37_chr6:75828643-75829842 IAGP ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar PMID:25741868 NCBI chr 6:75,118,927...75,120,126 JBrowse link
G LOC129996730 ATAC-STARR-seq lymphoblastoid active region 24756 IAGP ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar PMID:24334604 PMID:24334769 PMID:25741868 PMID:28973083 PMID:31273343 NCBI chr 6:75,147,636...75,147,685 JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD37 ankyrin repeat domain 37 IAGP ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chr 4:185,396,841...185,400,723
Ensembl chr 4:185,396,021...185,400,628 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: Hip dysplasia, Beukes type
ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip		 ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP
EXP		 ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
ClinVar Annotator: match by term: Hip dysplasia, Beukes type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G CYLD-AS1 CYLD antisense RNA 1 IAGP ClinVar Annotator: match by term: Blau syndrome
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome		 ClinVar PMID:11385576 PMID:11385577 PMID:11425413 PMID:11910337 PMID:12019468 More... NCBI chr16:50,727,415...50,742,747
Ensembl chr16:50,727,417...50,742,951 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP
EXP		 DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)		 ClinVar
CTD
OMIM
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040, RGD:8547518, RGD:8547515, RGD:8158051 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		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 IAGP
EXP		 ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness
ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-related disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:28492532 More... NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		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 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130059718 ATAC-STARR-seq lymphoblastoid silent region 7847 IAGP ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: ZNF469-related condition
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 chr16:88,430,596...88,430,755 JBrowse link
G LOC130059719 ATAC-STARR-seq lymphoblastoid silent region 7848 IAGP ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE
ClinVar Annotator: match by term: Brittle cornea syndrome 1		 ClinVar PMID:5755738 PMID:19661234 PMID:25741868 PMID:28492532 NCBI chr16:88,437,450...88,437,599 JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Brittle cornea syndrome 1
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
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: ZNF469-related condition
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: Fragilitas oculi with joint hyperextensibility | ClinVar Annotator: match by term: ZNF469-related condition
ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE
OMIM:229200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		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 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome 2 ClinVar
OMIM		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		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 IAGP ClinVar Annotator: match by term: Bruck syndrome ClinVar PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More... NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES ClinVar PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		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 IAGP ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP
EXP		 ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Arthrogryposis-like disorder
ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129389144 MPRA-validated peak4856 silencer IAGP ClinVar Annotator: match by term: Bruck syndrome 2 ClinVar PMID:25741868 PMID:28492532 PMID:32655337 NCBI chr 3:146,110,259...146,110,459 JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP
EXP		 ClinVar Annotator: match by term: Bruck syndrome 2
ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		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 IAGP
EXP		 ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G TPR translocated promoter region, nuclear basket protein IAGP ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693 		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 IAGP
EXP		 DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... RGD:1601070 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G KLC3 kinesin light chain 3 IAGP ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr19:45,340,750...45,351,519
Ensembl chr19:45,333,434...45,351,520 		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 IAGP
EXP		 ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G POLR1G RNA polymerase I subunit G IAGP ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr19:45,406,644...45,410,737
Ensembl chr19:45,406,644...45,410,737 		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 IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar
RGD		 PMID:25741868 PMID:12297987 RGD:734570 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G LOC129993725 ATAC-STARR-seq lymphoblastoid silent region 15944 IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chr 5:14,871,518...14,871,607 JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar PMID:25741868 NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		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 IAGP
EXP		 ClinVar Annotator: match by term: Chondrocalcinosis 2
ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 More... NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G LOC100130744 uncharacterized LOC100130744 IAGP ClinVar Annotator: match by term: Chondrocalcinosis 2
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 chr 5:14,712,694...14,716,529 JBrowse link
G LOC129993725 ATAC-STARR-seq lymphoblastoid silent region 15944 IAGP ClinVar Annotator: match by term: Chondrocalcinosis 2 ClinVar NCBI chr 5:14,871,518...14,871,607 JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Chondrocalcinosis 2
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 chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529 		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 IAGP
ISS		 ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type
OMIM:614078		 ClinVar
MouseDO
OMIM		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 More... NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G LOC130000433 ATAC-STARR-seq lymphoblastoid silent region 19212 IAGP ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type ClinVar PMID:25741868 NCBI chr 8:56,993,424...56,993,983 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 IAGP
EXP		 ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
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
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: GLE1-related disorder | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7770128 PMID:16892327 PMID:18204449 PMID:22484600 PMID:24243016 More... NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G LOC101929270 uncharacterized LOC101929270 IAGP ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
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
ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
ClinVar Annotator: match by term: GLE1-related disorder		 ClinVar PMID:18204449 PMID:22484600 PMID:24243016 PMID:24961629 PMID:24970098 More... NCBI chr 9:128,528,611...128,552,413 JBrowse link
G LOC130002710 ATAC-STARR-seq lymphoblastoid silent region 20344 IAGP ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease ClinVar PMID:25741868 NCBI chr 9:128,504,530...128,504,739 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 IAGP
EXP		 ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Congenital contractural arachnodactyly
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: 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: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G LOC126807501 BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 IAGP ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Congenital contractural arachnodactyly
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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24833718 More... NCBI chr 5:128,345,039...128,346,238 JBrowse link
G LOC126807502 BRD4-independent group 4 enhancer GRCh37_chr5:127772173-127773372 IAGP ClinVar Annotator: match by term: Congenital contractural arachnodactyly ClinVar PMID:28492532 NCBI chr 5:128,436,480...128,437,679 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 IAGP ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar
OMIM		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NALCN-AS1 NALCN antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr13:100,708,325...101,059,286
Ensembl chr13:100,708,325...101,081,764 		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 IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G GAS7 growth arrest specific 7 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,910,606...10,198,606
Ensembl chr17:9,910,606...10,198,606 		JBrowse link
G GLP2R glucagon like peptide 2 receptor IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,825,924...9,892,099
Ensembl chr17:9,822,206...9,892,099 		JBrowse link
G LOC126862500 BRD4-independent group 4 enhancer GRCh37_chr17:10427829-10429028 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20418530 PMID:23388406 More... NCBI chr17:10,524,512...10,525,711 JBrowse link
G LOC126862501 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20418530 PMID:23388406 More... NCBI chr17:10,542,939...10,544,138 JBrowse link
G MYH1 myosin heavy chain 1 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,492,307...10,518,542
Ensembl chr17:10,492,307...10,518,542 		JBrowse link
G MYH13 myosin heavy chain 13 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,300,865...10,373,006
Ensembl chr17:10,300,865...10,373,130 		JBrowse link
G MYH2 myosin heavy chain 2 IAGP
EXP		 ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH4 myosin heavy chain 4 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,443,263...10,469,559
Ensembl chr17:10,443,290...10,469,559 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia		 ClinVar PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,291,816...10,684,235 		JBrowse link
G RCVRN recoverin IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,896,320...9,905,271
Ensembl chr17:9,896,320...9,905,271 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
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 chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		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 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G ADAMTSL2 ADAMTS like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G DRG1 developmentally regulated GTP binding protein 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr22:31,399,604...31,434,452
Ensembl chr22:31,399,604...31,528,740 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26489027 PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FBN3 fibrillin 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chr19:8,065,402...8,149,592
Ensembl chr19:8,065,402...8,149,592 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G HOXA11 homeobox A11 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G LOC107126281 NUP98-HOXA11 recombination region IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:27,183,029...27,185,218 JBrowse link
G LOC126860282 BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 8:2,105,593...2,106,791 JBrowse link
G MID1IP1 MID1 interacting protein 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:38,801,459...38,806,532
Ensembl chr  X:38,801,440...38,806,537 		JBrowse link
G MYBPC2 myosin binding protein C2 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr19:50,432,892...50,466,321
Ensembl chr19:50,432,892...50,466,321 		JBrowse link
G MYH7B myosin heavy chain 7B IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 PMID:28492532 NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437 		JBrowse link
G MYO9A myosin IXA IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYOM2 myomesin 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 8:2,045,046...2,145,456
Ensembl chr 8:2,045,046...2,165,552 		JBrowse link
G MYOM3 myomesin 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 1:24,056,041...24,112,135
Ensembl chr 1:24,056,035...24,112,135 		JBrowse link
G NR2C1 nuclear receptor subfamily 2 group C member 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr12:95,020,229...95,073,618
Ensembl chr12:95,020,229...95,073,628 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:16199547 PMID:27653382 PMID:27843126 PMID:28492532 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRDM2 PR/SET domain 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:13,700,188...13,825,079
Ensembl chr 1:13,700,188...13,825,079 		JBrowse link
G PRG4 proteoglycan 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PSD3 pleckstrin and Sec7 domain containing 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 8:18,527,303...19,084,805
Ensembl chr 8:18,527,303...19,084,730 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28492532 PMID:29498452 PMID:31230720 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) RGD PMID:21155763 RGD:11072411 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SYT2 synaptotagmin 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TMEM214 transmembrane protein 214 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 2:27,032,965...27,041,694
Ensembl chr 2:27,032,910...27,041,694 		JBrowse link
G TOR1A torsin family 1 member A IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G VPS8 VPS8 subunit of CORVET complex IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 3:184,812,166...185,052,614
Ensembl chr 3:184,812,143...185,052,614 		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 IAGP
EXP		 ClinVar Annotator: match by term: CHRNG-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: CHRNG-related disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP
EXP		 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		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 IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B
ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:16826520 PMID:25741868 PMID:28492532 PMID:31354645 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		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 IAGP DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human)		 RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b severity IEP associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:24581741 PMID:25741868 PMID:28492532 NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Desbuquois syndrome
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
OMIM:251450 | OMIM:615777
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:19853239 PMID:25741868 PMID:28492532 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION ClinVar PMID:28492532 NCBI chr16:17,259,311...17,259,710 JBrowse link
G XYLT1 xylosyltransferase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION		 CTD
ClinVar		 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		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) IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:17576681 PMID:24581741 PMID:25741868 More... NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CEP20 centrosomal protein 20 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,865,719...15,888,603
Ensembl chr16:15,865,719...15,888,625 		JBrowse link
G LOC126862302 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:17498817-17500016 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,404,960...17,406,159 JBrowse link
G LOC129390772 MPRA-validated peak2513 silencer IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,149,959...17,150,159 JBrowse link
G LOC130058563 ATAC-STARR-seq lymphoblastoid active region 10502 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,134,754...17,134,813 JBrowse link
G LOC130058564 ATAC-STARR-seq lymphoblastoid active region 10503 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,252,292...17,252,391 JBrowse link
G LOC130058565 ATAC-STARR-seq lymphoblastoid active region 10504 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,259,101...17,259,150 JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:31785789 NCBI chr16:17,259,311...17,259,710 JBrowse link
G LOC130058567 ATAC-STARR-seq lymphoblastoid silent region 7235 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,303,414...17,303,483 JBrowse link
G LOC130058568 ATAC-STARR-seq lymphoblastoid active region 10506 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,347,580...17,347,669 JBrowse link
G LOC130058569 ATAC-STARR-seq lymphoblastoid active region 10507 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,360,013...17,360,102 JBrowse link
G LOC130058570 ATAC-STARR-seq lymphoblastoid active region 10508 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,369,586...17,369,675 JBrowse link
G LOC130058571 ATAC-STARR-seq lymphoblastoid silent region 7236 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,376,026...17,376,095 JBrowse link
G LOC130058572 ATAC-STARR-seq lymphoblastoid active region 10509 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,462,125...17,462,174 JBrowse link
G LOC130058573 ATAC-STARR-seq lymphoblastoid active region 10510 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,468,075...17,468,144 JBrowse link
G LOC130058574 ATAC-STARR-seq lymphoblastoid active region 10511 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,469,740...17,470,009 JBrowse link
G LOC130058575 ATAC-STARR-seq lymphoblastoid active region 10512 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:26601923 PMID:28492532 NCBI chr16:17,470,130...17,470,179 JBrowse link
G LOC130061867 ATAC-STARR-seq lymphoblastoid silent region 9077 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:19853239 PMID:22539336 PMID:25741868 NCBI chr17:79,009,484...79,009,863 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NOMO3 NODAL modulator 3 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr16:16,232,528...16,294,811
Ensembl chr16:16,232,506...16,300,806 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC109446.2 novel transcript, antisense to XYLT1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2
ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2		 ClinVar PMID:24581741 PMID:25741868 PMID:28462984 PMID:28492532 PMID:30554721 NCBI chr16:17,134,504...17,138,732
Ensembl chr16:17,134,504...17,138,736 		JBrowse link
G LOC130058566 ATAC-STARR-seq lymphoblastoid active region 10505 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar PMID:24581741 PMID:25741868 PMID:26601923 PMID:28492532 NCBI chr16:17,259,311...17,259,710 JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Desbuquois dysplasia 2
ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2		 ClinVar
OMIM		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		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 IAGP
EXP		 ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
distal arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECEL1 endothelin converting enzyme like 1 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G FBN2 fibrillin 2 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G KLHL7 kelch like family member 7 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:29074562 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G LOC112441444 Sharpr-MPRA regulatory region 9884 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr16:30,377,708...30,378,190 JBrowse link
G MYBPC1 myosin binding protein C1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL11 myosin light chain 11 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP
ISS		 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar Annotator: match by term: Distal arthrogryposis
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065		 ClinVar
MouseDO		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis		 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G USP14 ubiquitin specific peptidase 14 IAGP ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement ClinVar PMID:25741868 PMID:35066879 NCBI chr18:158,557...214,629
Ensembl chr18:158,383...214,629 		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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,291,816...10,684,235 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:17339586 PMID:19155175 PMID:23401156 PMID:23678273 PMID:24692096 More... NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		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 susceptibility IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30777867 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 12 OMIM
ClinVar		 PMID:35962790 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD18B ankyrin repeat domain 18B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,524,251...33,575,442
Ensembl chr 9:33,524,251...33,608,848 		JBrowse link
G APTX aprataxin IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G AQP3 aquaporin 3 (Gill blood group) IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596 		JBrowse link
G AQP7 aquaporin 7 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,383,191...33,402,568
Ensembl chr 9:33,383,179...33,402,682 		JBrowse link
G ARHGEF39 Rho guanine nucleotide exchange factor 39 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,659,343...35,665,195
Ensembl chr 9:35,658,875...35,675,866 		JBrowse link
G ARID3C AT-rich interaction domain 3C IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,621,049...34,633,011
Ensembl chr 9:34,621,049...34,629,066 		JBrowse link
G ATOSB atos homolog B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,104,117...35,116,380
Ensembl chr 9:35,104,112...35,116,341 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,336 		JBrowse link
G BAG1 BAG cochaperone 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,252,471...33,264,708
Ensembl chr 9:33,247,820...33,264,720 		JBrowse link
G CA9 carbonic anhydrase 9 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159 		JBrowse link
G CCIN calicin IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334 		JBrowse link
G CCL19 C-C motif chemokine ligand 19 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048 		JBrowse link
G CD72 CD72 molecule IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,609,982...35,646,857
Ensembl chr 9:35,609,982...35,646,810 		JBrowse link
G CHMP5 charged multivesicular body protein 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,265,049...33,282,070
Ensembl chr 9:33,264,879...33,282,070 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,561,831...35,563,878
Ensembl chr 9:35,561,831...35,563,899 		JBrowse link
G CLTA clathrin light chain A IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,190,874...36,212,059
Ensembl chr 9:36,190,856...36,304,781 		JBrowse link
G CNTFR ciliary neurotrophic factor receptor IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,551,433...34,590,852
Ensembl chr 9:34,551,432...34,590,140 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G CREB3 cAMP responsive element binding protein 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,732,666...35,736,999
Ensembl chr 9:35,732,598...35,736,999 		JBrowse link
G DCAF12 DDB1 and CUL4 associated factor 12 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,086,387...34,126,698
Ensembl chr 9:34,086,387...34,127,399 		JBrowse link
G DCTN3 dynactin subunit 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,613,546...34,620,495
Ensembl chr 9:34,613,545...34,620,523 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,025,273...33,039,907
Ensembl chr 9:33,025,273...33,039,907 		JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,989,745...34,998,900
Ensembl chr 9:34,989,641...34,998,900 		JBrowse link
G ENHO energy homeostasis associated IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,521,043...34,522,990
Ensembl chr 9:34,521,043...34,522,990 		JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G FAM219A family with sequence similarity 219 member A IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,398,184...34,458,570
Ensembl chr 9:34,398,184...34,458,570 		JBrowse link
G FAM221B family with sequence similarity 221 member B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,816,391...35,828,732
Ensembl chr 9:35,816,391...35,828,747 		JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FBXO10 F-box protein 10 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,510,892...37,576,380
Ensembl chr 9:37,510,892...37,576,380 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G GLIPR2 GLI pathogenesis related 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,136,536...36,163,913
Ensembl chr 9:36,136,536...36,163,913 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,812,960...35,815,479
Ensembl chr 9:35,812,960...35,815,354 		JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,906,202...35,907,136
Ensembl chr 9:35,906,202...35,907,136 		JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902 		JBrowse link
G KIF24 kinesin family member 24 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,252,380...34,333,671
Ensembl chr 9:34,252,380...34,329,268 		JBrowse link
G MELK maternal embryonic leucine zipper kinase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,572,895...36,677,682
Ensembl chr 9:36,572,862...36,677,683 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MSMP microseminoprotein, prostate associated IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,752,990...35,754,276
Ensembl chr 9:35,752,990...35,756,613 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,291,816...10,684,235 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,553,001...32,573,159
Ensembl chr 9:32,553,001...32,573,184 		JBrowse link
G NFX1 nuclear transcription factor, X-box binding 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,290,516...33,371,157
Ensembl chr 9:33,290,512...33,371,157 		JBrowse link
G NOL6 nucleolar protein 6 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,461,353...33,473,924
Ensembl chr 9:33,461,353...33,473,930 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NUDT2 nudix hydrolase 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,713 		JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,869,463...35,870,401
Ensembl chr 9:35,869,463...35,870,401 		JBrowse link
G OR2S2 olfactory receptor family 2 subfamily S member 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,957,108...35,958,154
Ensembl chr 9:35,957,108...35,958,154 		JBrowse link
G PAX5 paired box 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,833,269...37,034,268
Ensembl chr 9:36,833,269...37,034,268 		JBrowse link
G PHF24 PHD finger protein 24 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,665,607...34,982,544
Ensembl chr 9:34,957,608...34,982,544 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G POLR1E RNA polymerase I subunit E IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,485,948...37,503,697
Ensembl chr 9:37,485,948...37,503,697 		JBrowse link
G PRSS3 serine protease 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,750,679...33,799,231
Ensembl chr 9:33,750,679...33,799,231 		JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,036,913...36,124,455
Ensembl chr 9:36,036,913...36,124,455 		JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,749,287...35,790,428
Ensembl chr 9:35,749,287...35,758,585 		JBrowse link
G RIGI RNA sensor RIG-I IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNF38 ring finger protein 38 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:36,336,400...36,487,669
Ensembl chr 9:36,336,396...36,487,548 		JBrowse link
G RPP25L ribonuclease P/MRP subunit p25 like IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,610,495...34,612,097
Ensembl chr 9:34,610,486...34,612,104 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,649,295...35,650,931
Ensembl chr 9:35,649,295...35,650,931 		JBrowse link
G SMU1 SMU1 DNA replication regulator and spliceosomal factor IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,041,765...33,076,674
Ensembl chr 9:33,041,765...33,076,674 		JBrowse link
G SPAG8 sperm associated antigen 8 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,807,785...35,812,262
Ensembl chr 9:35,808,045...35,812,272 		JBrowse link
G SPATA31F1 SPATA31 subfamily F member 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,723,053...34,729,488
Ensembl chr 9:34,723,053...34,729,488 		JBrowse link
G SPATA31G1 SPATA31 subfamily G member 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,041,095...35,045,986
Ensembl chr 9:35,041,095...35,045,986 		JBrowse link
G SPINK4 serine peptidase inhibitor Kazal type 4 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,240,167...33,248,567
Ensembl chr 9:33,218,365...33,248,567 		JBrowse link
G SPMIP6 sperm microtubule inner protein 6 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,379,019...34,397,810
Ensembl chr 9:34,379,019...34,397,828 		JBrowse link
G STOML2 stomatin like 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195 		JBrowse link
G TAF1L TATA-box binding protein associated factor 1 like IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,629,454...32,635,669
Ensembl chr 9:32,629,454...32,635,669 		JBrowse link
G TESK1 testis associated actin remodelling kinase 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,605,262...35,610,033
Ensembl chr 9:35,605,262...35,610,041 		JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195 		JBrowse link
G TMEM215 transmembrane protein 215 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,783,540...32,789,201
Ensembl chr 9:32,783,540...32,789,201 		JBrowse link
G TMEM8B transmembrane protein 8B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,829,228...35,865,515
Ensembl chr 9:35,814,451...35,865,518 		JBrowse link
G TOMM5 translocase of outer mitochondrial membrane 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,588,413...37,592,597
Ensembl chr 9:37,582,646...37,592,604 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRMT10B tRNA methyltransferase 10B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,752,901...37,778,972
Ensembl chr 9:37,753,803...37,778,972 		JBrowse link
G UBAP1 ubiquitin associated protein 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		JBrowse link
G UBAP2 ubiquitin associated protein 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,921,693...34,049,199
Ensembl chr 9:33,921,693...34,049,388 		JBrowse link
G UBE2R2 ubiquitin conjugating enzyme E2 R2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:33,815,168...33,920,399
Ensembl chr 9:33,817,160...33,920,399 		JBrowse link
G UNC13B unc-13 homolog B IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,162,009...35,405,335
Ensembl chr 9:35,161,992...35,405,338 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G ZBTB5 zinc finger and BTB domain containing 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,438,102...37,465,450
Ensembl chr 9:37,438,102...37,465,450 		JBrowse link
G ZCCHC7 zinc finger CCHC-type containing 7 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 9:37,120,167...37,358,149
Ensembl chr 9:37,120,574...37,358,149 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC105369937 uncharacterized LOC105369937 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B ClinVar PMID:28492532 NCBI chr12:101,646,720...101,650,871 JBrowse link
G MYBPC1 myosin binding protein C1 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B ClinVar
OMIM		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112441444 Sharpr-MPRA regulatory region 9884 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C ClinVar PMID:32707087 NCBI chr16:30,377,708...30,378,190 JBrowse link
G MYL11 myosin light chain 11 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16199547 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP DNA:missense mutation:exon:p.A234T (769C>T) (human)
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 ClinVar
RGD		 PMID:16642020 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 More... RGD:12792960 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G TNNI2 troponin I2, fast skeletal type EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP DNA:missense mutation:cds;p.Arg63His(human)
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B		 ClinVar
RGD		 PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... RGD:1599490 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 OMIM
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 More... NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:25741868 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 ClinVar
OMIM		 PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
distal arthrogryposis type 2B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130060295 ATAC-STARR-seq lymphoblastoid active region 11731 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 ClinVar NCBI chr17:10,634,112...10,634,271 JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3
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 chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 ClinVar PMID:17339586 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 More... NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		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 IAGP ClinVar Annotator: match by term: Gordon syndrome
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome		 ClinVar
OMIM		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		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 IAGP ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome		 ClinVar
OMIM		 PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		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 IAGP ClinVar Annotator: match by term: Distal arthrogryposis type 5D OMIM
ClinVar		 PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 More... NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		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 IAGP ClinVar Annotator: match by term: Beals-Hecht syndrome
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome
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: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition		 ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 More... NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G LOC126807501 BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 IAGP ClinVar Annotator: match by term: Beals-Hecht syndrome ClinVar PMID:24033266 PMID:24833718 PMID:25741868 PMID:28492532 NCBI chr 5:128,345,039...128,346,238 JBrowse link
G LOC126862493 BRD4-independent group 4 enhancer GRCh37_chr17:10295275-10296474 IAGP ClinVar Annotator: match by term: 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		 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:10,391,958...10,393,157 JBrowse link
G LOC126862494 BRD4-independent group 4 enhancer GRCh37_chr17:10303826-10305025 IAGP ClinVar Annotator: match by term: Hecht syndrome
ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition		 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr17:10,400,509...10,401,708 JBrowse link
G MYH8 myosin heavy chain 8 IAGP
EXP		 DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: 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
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
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome		 ClinVar PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,291,816...10,684,235 		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 LOC126862696 BRD4-independent group 4 enhancer GRCh37_chr18:10769534-10770733 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar PMID:25741868 NCBI chr18:10,769,536...10,770,735 JBrowse link
G MIR6788 microRNA 6788 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar PMID:25741868 NCBI chr18:10,759,584...10,759,649
Ensembl chr18:10,759,584...10,759,649 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar
OMIM		 PMID:8423615 PMID:9536098 PMID:11152147 PMID:17576681 PMID:24726473 More... NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		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 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 ClinVar
OMIM		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
Experimental Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO protein:increased expression:serum RGD PMID:6163339 RGD:10046032 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO
EXP		 mRNA:altered expression:liver
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:intestinal mucosa (rat)		 CTD
RGD		 PMID:17827786 PMID:19152228 PMID:17827786 RGD:2315573, RGD:11040994 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO mRNA:decreased expression:kidney RGD PMID:22974786 RGD:11038789 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) ISO mRNA:decreased expression:small intestine RGD PMID:19152228 RGD:2315573 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628 		JBrowse link
G ACAN aggrecan treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACE angiotensin I converting enzyme ISO RGD PMID:20213806 RGD:2325221 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACSL1 acyl-CoA synthetase long chain family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr 4:184,755,595...184,826,594
Ensembl chr 4:184,755,595...184,826,818 		JBrowse link
G ACSL4 acyl-CoA synthetase long chain family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
G ACSL5 acyl-CoA synthetase long chain family member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr10:112,374,116...112,428,376
Ensembl chr10:112,374,116...112,428,379 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO RGD PMID:23897050 RGD:13703039 NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO RGD PMID:23897050 RGD:13703039 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO
EXP
IDA		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23326410 PMID:21681567 PMID:19026984 RGD:5685385, RGD:5686814 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADK adenosine kinase ISO RGD PMID:11160636 RGD:6482663 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963 		JBrowse link
G AHCY adenosylhomocysteinase ISO RGD PMID:11123369 RGD:1598898 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G AHR aryl hydrocarbon receptor exacerbates EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25194622 PMID:27032495 PMID:26221077 RGD:407420267, RGD:405878089 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 treatment ISO RGD PMID:22391142 RGD:10041007 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALOX15 arachidonate 15-lipoxygenase ISO RGD PMID:19675173 RGD:5509599 NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294 		JBrowse link
G ANXA1 annexin A1 ISO RGD PMID:10403283 PMID:23267026 RGD:2306928, RGD:7421573 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629 		JBrowse link
G ANXA2 annexin A2 ameliorates ISO RGD PMID:24819400 RGD:150519886 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883 		JBrowse link
G AOC3 amine oxidase copper containing 3 ISO RGD PMID:16947396 RGD:2313925 NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130 		JBrowse link
G APOA4 apolipoprotein A4 ISO protein:decreased expression:blood serum (rat) RGD PMID:10892728 RGD:5685694 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G ARRB1 arrestin beta 1 ISO protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr11:75,260,122...75,351,661
Ensembl chr11:75,260,122...75,351,705 		JBrowse link
G ARRB2 arrestin beta 2 ISO protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO RGD PMID:17408934 RGD:5144054 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:21199477 PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:21199477 PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BDKRB1 bradykinin receptor B1 ISO RGD PMID:15001555 RGD:1625760 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21406003 RGD:6483549 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BTK Bruton tyrosine kinase treatment ISO RGD PMID:22228807 PMID:32083858 RGD:11040701, RGD:151665122 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G C3 complement C3 treatment ISO RGD PMID:20051658 PMID:7347767 RGD:7411688, RGD:11041098 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C5 complement C5 ISO RGD PMID:20975959 PMID:12355496 RGD:5130175, RGD:1600637 NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195 		JBrowse link
G CABIN1 calcineurin binding protein 1 IMP RGD PMID:22275266 RGD:10054391 NCBI chr22:24,011,304...24,178,628
Ensembl chr22:24,011,192...24,178,628 		JBrowse link
G CALCA calcitonin related polypeptide alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354 		JBrowse link
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CBL Cbl proto-oncogene treatment ISO RGD PMID:16984225 RGD:2306289 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CBLB Cbl proto-oncogene B ISO RGD PMID:16984225 RGD:2306289 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO mRNA, protein:increased expression:synovium RGD PMID:18726678 PMID:24583103 PMID:17052673 PMID:18292571 RGD:2307008, RGD:11526142, RGD:2307143, RGD:2307052 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL3 C-C motif chemokine ligand 3 ISO mRNA, protein:increased expression:synovium, monocytes RGD PMID:17052673 RGD:2307143 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA, protein:increased expression:synovium, monocytes RGD PMID:9637726 PMID:17052673 RGD:4889940, RGD:2307143 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCL7 C-C motif chemokine ligand 7 onset ISO RGD PMID:17178563 RGD:6483780 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242 		JBrowse link
G CCN1 cellular communication network factor 1 ameliorates ISO RGD PMID:27653023 RGD:150429754 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:18608173 PMID:14674010 RGD:5688144, RGD:1582346 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:16320322 RGD:4144893 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 treatment ISO mRNA:increased expression:ankle (rat) RGD PMID:14674010 PMID:22289897 RGD:1582346, RGD:5687744 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD28 CD28 molecule ISO RGD PMID:18601859 RGD:2307202 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:15479897 PMID:12010568 RGD:10058957, RGD:10058960 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20435931 RGD:5490544 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand treatment ISO protein:increased expression:plasma (rat) RGD PMID:27218142 PMID:7689748 PMID:22611405 RGD:11344958, RGD:11352696, RGD:11352298 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD44 CD44 molecule (IN blood group) ISO protein:increased expression:joint, macrophage, lymphocyte RGD PMID:8639178 RGD:2289388 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402 		JBrowse link
G CD46 CD46 molecule IMP RGD PMID:21852528 RGD:6483461 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CD59 CD59 molecule (CD59 blood group) ISO RGD PMID:14519760 RGD:1600483 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		JBrowse link
G CD69 CD69 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:12882836 NCBI chr12:9,752,486...9,760,901
Ensembl chr12:9,752,486...9,760,901 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:22004797 RGD:6902903 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614 		JBrowse link
G CDC42 cell division cycle 42 ISO protein:increased activation:bone marrow, macrophage RGD PMID:21266780 RGD:5688271 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A treatment IMP RGD PMID:10395320 RGD:8552686 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CFH complement factor H ISO RGD PMID:19828624 RGD:5684557 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G COL2A1 collagen type II alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:16200597 PMID:21188452 PMID:23326410 PMID:24709313 PMID:25194622 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CP ceruloplasmin ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19330884 PMID:19205849 RGD:2314686 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO protein:decreased activity:liver (rat) RGD PMID:9173682 RGD:1600958 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO RGD PMID:17550594 RGD:1626231 NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828 		JBrowse link
G CRP C-reactive protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19330884 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CSF1 colony stimulating factor 1 ISO protein:increased expression:dorsal root ganglion RGD PMID:32510872 RGD:127338469 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992 		JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment ISO RGD PMID:18434589 RGD:151665814 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:12742377 RGD:11039465 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G CSK C-terminal Src kinase ISO RGD PMID:10411542 RGD:5134371 NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO
IMP		 RGD PMID:22354915 PMID:7543497 RGD:7204500, RGD:7204519 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTSB cathepsin B ISO mRNA:increased expression:knee joint, synovium (rat) RGD PMID:17195213 RGD:2315521 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533 		JBrowse link
G CTSK cathepsin K ISO mRNA:increased expression:synovium, bone marrow RGD PMID:15353610 RGD:1601025 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CTSS cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 1:150,730,188...150,765,778
Ensembl chr 1:150,730,079...150,765,957 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:11465708 RGD:4892002 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:17123734 PMID:11465708 RGD:4891969, RGD:4892002 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO RGD PMID:19096963 RGD:4889415 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 severity ISO RGD PMID:10358204 RGD:5135272 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 severity ISO RGD PMID:10358204 RGD:5135272 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO RGD PMID:24819400 RGD:150519886 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO RGD PMID:15182735 RGD:2316231 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974942 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G DNMT1 DNA methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DRD1 dopamine receptor D1 treatment ISO mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 PMID:23762129 RGD:7248592, RGD:7248592 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182 		JBrowse link
G DRD2 dopamine receptor D2 treatment ISO mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 PMID:23762129 RGD:7248592, RGD:7248592 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G EDN1 endothelin 1 ISO mRNA:increased expression:inguinal lymph node (mouse) RGD PMID:22249931 RGD:8661695 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: therapeutic CTD PMID:7589090 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ESR1 estrogen receptor 1 treatment ISO associated with Osteoporosis RGD PMID:20112355 RGD:10045851 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:16269464 RGD:5508854 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21436072 RGD:5147764 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F2R coagulation factor II thrombin receptor severity ISO RGD PMID:19674841 RGD:7387269 NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO RGD PMID:12511586 RGD:735010 NCBI chr 5:76,819,030...76,835,315
Ensembl chr 5:76,818,933...76,835,315 		JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:22354915 RGD:7204500 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCGR1A Fc gamma receptor Ia IMP
ISO		 protein:increased expression:dorsal root ganglion
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12875993 PMID:16670289 PMID:32510872 RGD:9685708, RGD:127338469 NCBI chr 1:149,782,694...149,800,609
Ensembl chr 1:149,782,671...149,791,675 		JBrowse link
G FCGR2A Fc gamma receptor IIa onset ISO RGD PMID:18354234 PMID:16623928 RGD:5508446, RGD:5508457 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR2B Fc gamma receptor IIb ISO RGD PMID:23341540 RGD:11344930 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO RGD PMID:18699993 RGD:2314157 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:19180491 RGD:6483591 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO RGD PMID:10857786 RGD:61066 NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit treatment ISO RGD PMID:24186846 RGD:405650594 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FOXP3 forkhead box P3 treatment ISO mRNA,protein:decreased expression:lung RGD PMID:29264841 PMID:23643080 RGD:38549364, RGD:38599003 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:23165424 RGD:7207259 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLI1 GLI family zinc finger 1 treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GPI glucose-6-phosphate isomerase IDA RGD PMID:23911657 RGD:11051957 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		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:28653218 PMID:28349925 PMID:28631356 RGD:13513975, RGD:13513979, RGD:13513976 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G GRN granulin precursor ISO RGD PMID:21393509 RGD:5509782 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:16713974 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994 		JBrowse link
G GUSB glucuronidase beta treatment ISO RGD PMID:827200 RGD:42724460 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO mRNA,protein:altered expression:bone: RGD PMID:25264706 RGD:9686117 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HDAC6 histone deacetylase 6 treatment ISO RGD PMID:23541634 RGD:9681550 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21679445 RGD:8693318 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IMP RGD PMID:21665435 PMID:19950279 RGD:5147558, RGD:5147586 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMGB1 high mobility group box 1 ISO protein:altered localization:cytoplasm, extracellular matrix RGD PMID:12384917 RGD:728698 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17119970 RGD:5508468 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001 		JBrowse link
G HP haptoglobin ISO protein:increased expression:serum
mRNA, protein:increased expression:tendon, ankle		 RGD PMID:15899029 PMID:12801280 RGD:1626370, RGD:1626375 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO RGD PMID:15529360 PMID:10882416 RGD:1624244, RGD:12910542 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G IFNG interferon gamma ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19203382 PMID:22450443 PMID:12412757 PMID:7774621 RGD:2311498, RGD:10755750 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:plasma RGD PMID:19246225 RGD:2306697 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA, protein:increased expression:kidney, serum RGD PMID:14642797 RGD:10402760 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO RGD PMID:21087862 PMID:19652024 RGD:7495772, RGD:7495778 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment ISO RGD PMID:16684367 RGD:12791276 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL10 interleukin 10 treatment IDA
EXP
ISO		 CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum:		 CTD
RGD		 PMID:20974942 PMID:22450443 PMID:15270736 PMID:19169271 PMID:23140046 More... RGD:1626677, RGD:8662976, RGD:7193038, RGD:7364838, RGD:2311059 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL13 interleukin 13 treatment IDA
EXP
ISO		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10444273 PMID:17665443 PMID:11860705 RGD:4889497, RGD:8549606 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL15 interleukin 15 IMP RGD PMID:20188418 RGD:5000761 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987 		JBrowse link
G IL17A interleukin 17A treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 CTD
RGD		 PMID:20974942 PMID:20925596 PMID:23377547 PMID:21194185 RGD:4781444, RGD:9130803, RGD:9068936 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 disease_progression ISO RGD PMID:19096963 PMID:15147345 RGD:4889415, RGD:4889503 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL1A interleukin 1 alpha ISO protein:increased expression:serum: RGD PMID:20379758 PMID:19169271 RGD:6907373, RGD:8662976 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 CTD
RGD		 PMID:19330884 PMID:20131233 PMID:20974942 PMID:22450443 PMID:21557995 More... RGD:7175317, RGD:13792834, RGD:10755447, RGD:7193038 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment IDA
IMP
ISO		 rat model treated with human protein
human gene in a rat model
mRNA:increased expression:popliteal lymph node (rat)
mouse model treated with human protein		 RGD PMID:15270736 PMID:12727108 PMID:10921508 PMID:22267332 PMID:23006786 RGD:1626677, RGD:8551745, RGD:8551741, RGD:8549801, RGD:6907376 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 treatment ISO protein:increased expression:serum: RGD PMID:19169271 PMID:2492102 RGD:8662976, RGD:10047055 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL20 interleukin 20 ISO RGD PMID:20722035 RGD:5147393 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,623...206,869,223 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO RGD PMID:17928458 RGD:2325988 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL33 interleukin 33 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983 		JBrowse link
G IL4 interleukin 4 treatment ISO
EXP
IDA		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10444273 PMID:16869003 PMID:23972727 PMID:23140046 RGD:2317300, RGD:10402790, RGD:7193038 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20131233 PMID:20974942 PMID:22450443 PMID:24028507 PMID:8607900 More... RGD:10755447, RGD:11060267, RGD:11049553, RGD:11049551 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IDA RGD PMID:20626857 RGD:5509945 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G ITGA4 integrin subunit alpha 4 treatment ISO RGD PMID:12969328 RGD:9698440 NCBI chr 2:181,457,205...181,538,940
Ensembl chr 2:181,457,202...181,538,940 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO RGD PMID:8881759 RGD:6482229 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G ITGB3 integrin subunit beta 3 ISO protein:increased expression:endothelial cell RGD PMID:16869003 RGD:2317300 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO RGD PMID:19265135 RGD:6482234 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G JAK1 Janus kinase 1 treatment ISO RGD PMID:29452839 RGD:19165139 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:22339472 PMID:23711144 PMID:22800927 RGD:10403066, RGD:10403081, RGD:10403074 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JAK3 Janus kinase 3 treatment ISO RGD PMID:25762693 PMID:18234077 PMID:21434883 RGD:11533938, RGD:11533944, RGD:11533942 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:25131209 RGD:150521609 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G KLKB1 kallikrein B1 ISO RGD PMID:22739815 PMID:9783057 RGD:7297047, RGD:7327138 NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471 		JBrowse link
G KNG1 kininogen 1 ISO RGD PMID:1996642 RGD:11059895 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410 		JBrowse link
G KYAT1 kynurenine aminotransferase 1 ISO RGD PMID:16984225 RGD:2306289 NCBI chr 9:128,832,942...128,882,523
Ensembl chr 9:128,832,942...128,882,494
Ensembl chr 9:128,832,942...128,882,494 		JBrowse link
G LEP leptin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15142272 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LGALS3 galectin 3 ISO RGD PMID:16507131 RGD:1625684 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 IMP RGD PMID:16331767 RGD:10412332 NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097 		JBrowse link
G MIF macrophage migration inhibitory factor ISO RGD PMID:10765927 RGD:1642012 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MIR146A microRNA 146a ISO mRNA:increased expression:joints (mouse) RGD PMID:22660635 RGD:155663483 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450 		JBrowse link
G MIR152 microRNA 152 EXP
ISO		 CTD Direct Evidence: marker/mechanism
miRNA:decreased exression:synovial membrane of synovial joint		 CTD
RGD		 PMID:25194984 PMID:25194984 RGD:21066343 NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247 		JBrowse link
G MIR23B microRNA 23b treatment ISO mRNA:decreased expression:joint (mouse) RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304 		JBrowse link
G MIR26A1 microRNA 26a-1 ISO CTD Direct Evidence: therapeutic CTD PMID:24423102 NCBI chr 3:37,969,404...37,969,480
Ensembl chr 3:37,969,404...37,969,480 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:21288455 PMID:24011916 PMID:21108488 RGD:7207362, RGD:8549748, RGD:7207365 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO RGD PMID:24244039 PMID:11435459 RGD:8694124, RGD:1582329 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:ankle joint 		CTD
RGD		 PMID:20974942 PMID:20703013 PMID:24244039 PMID:24244039 PMID:24011916 More... RGD:7241231, RGD:8694124, RGD:8694124, RGD:8549748, RGD:8693318 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cartilage, serum, synovial fluid RGD PMID:17463159 RGD:1642035 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MPO myeloperoxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 susceptibility ISO DNA:transversion: :m.7778G>T (mouse) RGD PMID:19759059 RGD:5490297 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:22391142 RGD:10041007 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO RGD PMID:20131263 RGD:8552884 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G MYOD1 myogenic differentiation 1 treatment ISO RGD PMID:23781298 RGD:9686078 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G MYOG myogenin treatment ISO RGD PMID:23781298 RGD:9686078 NCBI chr 1:203,083,129...203,086,012
Ensembl chr 1:203,083,129...203,086,012 		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 chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO RGD PMID:21424514 PMID:20131263 RGD:5508728, RGD:8552884 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		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 chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO RGD PMID:29337196 RGD:13504725 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NPSR1 neuropeptide S receptor 1 treatment ISO RGD PMID:24884567 RGD:9831205 NCBI chr 7:34,658,218...34,878,332
Ensembl chr 7:34,658,218...34,878,332 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 severity ISO RGD PMID:16905546 RGD:11073695 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G NR1H2 nuclear receptor subfamily 1 group H member 2 ISO RGD PMID:21859686 RGD:6480864 NCBI chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 ISO RGD PMID:21859686 RGD:6480864 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 treatment ISO RGD PMID:30967782 RGD:408364994 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO RGD PMID:18706093 RGD:2300006 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NTS neurotensin ISO RGD PMID:8518953 RGD:9743903 NCBI chr12:85,874,295...85,882,992
Ensembl chr12:85,874,295...85,882,992 		JBrowse link
G ORM1 orosomucoid 1 ISO protein:increased expression:liver RGD PMID:16166348 RGD:2316639 NCBI chr 9:114,323,098...114,326,479
Ensembl chr 9:114,323,098...114,326,479 		JBrowse link
G P2RY12 purinergic receptor P2Y12 ISO RGD PMID:22028806 RGD:6480518 NCBI chr 3:151,336,843...151,384,753
Ensembl chr 3:151,336,843...151,384,753 		JBrowse link
G PAM peptidylglycine alpha-amidating monooxygenase ISO RGD PMID:17138865 RGD:6483527 NCBI chr 5:102,754,783...103,031,105
Ensembl chr 5:102,753,981...103,029,730 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 severity ISO RGD PMID:16356201 RGD:5684009 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PDYN prodynorphin treatment ISO RGD PMID:25102697 RGD:401851905 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:knee joint, blood vessels (mouse) RGD PMID:22548760 PMID:14613294 PMID:21982514 RGD:6484738, RGD:6771222, RGD:6771177 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776 		JBrowse link
G PGF placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO RGD PMID:18412166 RGD:6482696 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO RGD PMID:20374644 PMID:18412166 RGD:6482684, RGD:6482696 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G PLAU plasminogen activator, urokinase ISO RGD PMID:20973954 RGD:6483801 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G POMC proopiomelanocortin treatment ISO RGD PMID:25102697 RGD:401851905 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PRDM1 PR/SET domain 1 EXP CTD Direct Evidence: therapeutic CTD PMID:36181686 NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939 		JBrowse link
G PTCH1 patched 1 treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment
disease_progression		 ISO
EXP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:tarsal joint, synovium (rat)		 CTD
RGD		 PMID:18287210 PMID:20423341 PMID:11207665 PMID:18287210 RGD:10003041, RGD:10043377, RGD:10003052 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G PTGES prostaglandin E synthase ISO mRNA, protein:increased expression:paw RGD PMID:12707354 RGD:2300108 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042 		JBrowse link
G PTGES3 prostaglandin E synthase 3 ISO mRNA:increased expression:paw (rat) RGD PMID:12707354 RGD:2300108 NCBI chr12:56,663,349...56,688,284
Ensembl chr12:56,663,341...56,688,408 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO mRNA, protein:increased expression:synovium RGD PMID:22289897 RGD:5687744 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:synovium
protein:increased expression:autopod joint		 RGD PMID:18758904 PMID:22289897 PMID:21765105 RGD:2300221, RGD:5687744, RGD:5508310 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		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 chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RAG2 recombination activating 2 EXP CTD Direct Evidence: therapeutic CTD PMID:20974942 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G S100A8 S100 calcium binding protein A8 ISO RGD PMID:8343166 RGD:633930 NCBI chr 1:153,390,032...153,422,583
Ensembl chr 1:153,390,032...153,391,073 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO RGD PMID:8343166 RGD:633930 NCBI chr 1:153,357,854...153,361,023
Ensembl chr 1:153,357,854...153,361,023 		JBrowse link
G SAA1 serum amyloid A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15944321 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977 		JBrowse link
G SERPINC1 serpin family C member 1 ISO protein:decreased expression:plasma RGD PMID:22781611 RGD:11035273 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
G SFRP4 secreted frizzled related protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SHH sonic hedgehog signaling molecule treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 severity ISO RGD PMID:17122779 RGD:5684943 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO protein:decreased expression:articular cartilage of joint RGD PMID:10449524 PMID:9744360 RGD:634208, RGD:9999431 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564 		JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:25821409 RGD:12879456 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:mononuclear cell RGD PMID:16507131 RGD:1625684 NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077 		JBrowse link
G SPN sialophorin ISO associated with Staphylococcal Infections RGD PMID:7927732 RGD:2303983 NCBI chr16:29,662,963...29,670,876
Ensembl chr16:29,662,979...29,670,876 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO
EXP		 protein:increased tyrosine phosphorylation:macrophage, synovial cell
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15188379 PMID:14674010 RGD:1582346 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15188379 PMID:21937456 PMID:23711144 RGD:10403081 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TAC1 tachykinin precursor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9259450 NCBI chr 7:97,732,086...97,740,472
Ensembl chr 7:97,732,084...97,740,472 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:29763498 RGD:15036801 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO protein:increased expression:synovium RGD PMID:9010265 RGD:1601623 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:16879225 RGD:5685015 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO RGD PMID:12483743 RGD:2290463 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912 		JBrowse link
G TJP1 tight junction protein 1 ISO RGD PMID:18848892 RGD:2325138 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915 		JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:21725847 PMID:20131263 RGD:7241099, RGD:8552884 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR3 toll like receptor 3 ISO mRNA, protein:increased expression:spleen (rat) RGD PMID:20500834 RGD:5128706 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TNF tumor necrosis factor treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD
RGD		 PMID:7589090 PMID:9598899 PMID:19203382 PMID:19330884 PMID:19765281 More... RGD:7245941, RGD:13792834, RGD:10755447, RGD:10450611, RGD:8662976, RGD:8661761, RGD:7193038 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment ISO
EXP		 mRNA:decreased expression:bone
Sinomenine CHEBI:9163
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:23333834 PMID:16696922 PMID:24066131 RGD:1624171, RGD:42721982 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A treatment ISO RGD PMID:23052485 PMID:21690068 PMID:20370892 RGD:7245941, RGD:8661761, RGD:8661729 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B treatment IMP
ISO		 human protein in rat model RGD PMID:21463515 PMID:21690068 PMID:23052485 RGD:5131255, RGD:8661761, RGD:7245941 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TRPV2 transient receptor potential cation channel subfamily V member 2 treatment ISO RGD PMID:25869297 RGD:9999444 NCBI chr17:16,415,571...16,437,003
Ensembl chr17:16,415,571...16,437,003 		JBrowse link
G TXNDC5 thioredoxin domain containing 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chr 6:7,881,517...7,910,788
Ensembl chr 6:7,881,517...7,910,788 		JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:9598899 PMID:26221077 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G VIM vimentin ISO RGD PMID:7516431 RGD:6480480 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:21998117 PMID:19055696 RGD:5685376, RGD:5685612 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765 		JBrowse link
G XDH xanthine dehydrogenase ISO protein:increased expression:brain, mitochondrion RGD PMID:25870945 RGD:13208957 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
G XYLT1 xylosyltransferase 1 ISO mRNA:decreased expression:articular cartilage RGD PMID:19001053 RGD:2313142 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		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 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G DOK7 docking protein 7 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G LOC129992118 ATAC-STARR-seq lymphoblastoid silent region 15206 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:3,489,712...3,489,821 JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G PRG4 proteoglycan 4 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2567381 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25326637 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		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 AC026369.1 novel transcript, antisense to IQSEC3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:137,411...149,169
Ensembl chr12:137,411...149,169 		JBrowse link
G ACP2 acid phosphatase 2, lysosomal IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,239,302...47,248,814
Ensembl chr11:47,239,302...47,248,906 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP 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 chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADD1 adducin 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G ARFGAP2 ARF GTPase activating protein 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,164,301...47,176,879
Ensembl chr11:47,164,299...47,177,125 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 PMID:35338657 NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:33,851,781...34,075,325
Ensembl chr15:33,858,782...34,075,155 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:46,936,689...47,164,385
Ensembl chr11:46,936,689...47,164,385 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DOK7 docking protein 7 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:74,518,131...74,526,231
Ensembl chr 2:74,518,131...74,526,281 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EXOSC3 exosome component 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G FBLN1 fibulin 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GCN1 GCN1 activator of EIF2AK4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:120,127,202...120,194,715
Ensembl chr12:120,127,202...120,194,715 		JBrowse link
G GFRA4 GDNF family receptor alpha 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr20:3,659,248...3,663,399
Ensembl chr20:3,659,248...3,663,399 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,963,571...3,040,760
Ensembl chr 4:2,963,571...3,040,760 		JBrowse link
G HGFAC HGF activator IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,441,005...3,449,486
Ensembl chr 4:3,441,968...3,449,486 		JBrowse link
G HTT huntingtin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G IQSEC3 IQ motif and Sec7 domain ArfGEF 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:66,767...178,455
Ensembl chr12:66,767...178,455 		JBrowse link
G IQSEC3-AS1 IQSEC3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:164,620...182,408 JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LOC124310625 Sharpr-MPRA regulatory region 6532 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25640679 PMID:25695962 PMID:25900532 PMID:28492532 NCBI chr 9:110,752,809...110,753,103 JBrowse link
G LOC125177481 Sharpr-MPRA regulatory region 245 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:42,683,771...42,684,065 JBrowse link
G LOC126806951 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16199547 PMID:16794080 PMID:16917026 PMID:17452375 PMID:18165682 More... NCBI chr 4:3,484,388...3,485,587 JBrowse link
G LOC126860730 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:113544666-113545865 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25695962 PMID:25900532 PMID:28492532 NCBI chr 9:110,782,386...110,783,585 JBrowse link
G LOC129992118 ATAC-STARR-seq lymphoblastoid silent region 15206 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:9536098 PMID:16794080 PMID:16917026 PMID:17576681 PMID:18165682 More... NCBI chr 4:3,489,712...3,489,821 JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G MADD MAP kinase activating death domain IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MADD-AS1 MADD antisense RNA 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,270,657...47,272,110
Ensembl chr11:47,270,657...47,272,110 		JBrowse link
G MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:113,390,515...113,685,923
Ensembl chr 1:113,390,515...113,685,923 		JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,930,567...2,934,825
Ensembl chr 4:2,930,561...2,934,834 		JBrowse link
G MSANTD1 Myb/SANT DNA binding domain containing 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,244,273...3,256,613
Ensembl chr 4:3,244,369...3,271,738 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP
EXP		 ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
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: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NOP14 NOP14 nucleolar protein IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,937,936...2,963,406
Ensembl chr 4:2,937,933...2,963,406 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G PACSIN3 protein kinase C and casein kinase substrate in neurons 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,177,522...47,186,434
Ensembl chr11:47,177,522...47,186,443 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRG4 proteoglycan 4 IAGP ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: RAPSN-related disorder
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder		 ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RGS12 regulator of G protein signaling 12 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:3,285,891...3,439,913
Ensembl chr 4:3,293,021...3,439,913 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1		 ClinVar PMID:2567381 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SETBP1 SET binding protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SPAG16 sperm associated antigen 16 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:213,284,464...214,410,501
Ensembl chr 2:213,284,389...214,410,501 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 9:110,365,248...110,579,741
Ensembl chr 9:110,365,248...110,579,880 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25326637 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TXN thioredoxin IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507 		JBrowse link
G TXNDC8 thioredoxin domain containing 8 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 9:110,301,231...110,337,863
Ensembl chr 9:110,303,476...110,337,891 		JBrowse link
G UNC50 unc-50 inner nuclear membrane RNA binding protein IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:98,608,589...98,618,515
Ensembl chr 2:98,608,579...98,618,515 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZNF875 zinc finger protein 875 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr19:37,312,837...37,364,455
Ensembl chr19:37,312,837...37,369,365 		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 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		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 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386 		JBrowse link
G DOK7 docking protein 7 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 OMIM
ClinVar		 PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G LOC126806951 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 4:3,484,388...3,485,587 JBrowse link
G LOC129992118 ATAC-STARR-seq lymphoblastoid silent region 15206 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 4:3,489,712...3,489,821 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 LOC126862474 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:5316624-5317823 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr17:5,413,304...5,414,503 JBrowse link
G NUP88 nucleoporin 88 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G RABEP1 rabaptin, RAB GTPase binding effector protein 1 IAGP ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr17:5,282,284...5,386,340
Ensembl chr17:5,282,265...5,386,340 		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 IAGP
EXP		 ClinVar Annotator: match by term: Frank-Ter Haar syndrome
ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH3 myosin heavy chain 3 IAGP
EXP		 ClinVar Annotator: match by term: Freeman-Sheldon syndrome
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16642020 PMID:17576681 PMID:18414213 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
gout term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1CF APOBEC1 complementation factor IAGP DNA:SNP: :rs10821905 (human) RGD PMID:28679452 PMID:28252667 RGD:13831119, RGD:13831120 NCBI chr10:50,799,409...50,885,627
Ensembl chr10:50,799,409...50,885,675 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) susceptibility IAGP
EXP		 DNA:SNP:exon:rs2231142(human)
ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 More... RGD:13439747 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628 		JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G ALDH16A1 aldehyde dehydrogenase 16 family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chr19:49,453,225...49,471,050
Ensembl chr19:49,453,225...49,471,050 		JBrowse link
G ALPK1 alpha kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621 		JBrowse link
G CARD8 caspase recruitment domain family member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr19:48,203,148...48,255,946
Ensembl chr19:48,180,770...48,255,946 		JBrowse link
G CD14 CD14 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Gout ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G HP haptoglobin IAGP RGD PMID:7281841 RGD:1626362 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist EXP CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL33 interleukin 33 IEP RGD PMID:30863362 RGD:40400717 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983 		JBrowse link
G LPA lipoprotein(a) IEP protein:increased expression:serum RGD PMID:7702412 RGD:5509916 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G SLC17A3 solute carrier family 17 member 3 IAGP ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4 ClinVar
OMIM		 PMID:20810651 NCBI chr 6:25,844,856...25,874,243
Ensembl chr 6:25,833,066...25,882,286 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G XDH xanthine dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		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 IEP RGD PMID:14687896 RGD:8547877 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 IEP RGD PMID:11796404 RGD:7241254 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity IEP RGD PMID:14687896 RGD:8547877 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		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 IAGP DNA:SNPs:exons: (rs2077647, rs1801132) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 no_association IAGP DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G IL4 interleukin 4 no_association IAGP DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL4R interleukin 4 receptor no_association IAGP DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
hemarthrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) RGD PMID:19444976 RGD:11528538 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G F8 coagulation factor VIII treatment ISO RGD PMID:31899798 RGD:150520060 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G IL6 interleukin 6 treatment ISO associated with Hemophilia A RGD PMID:23413986 RGD:11060150 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		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 chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73
ClinVar Annotator: match by term: Calcification of joints and arteries		 OMIM
ClinVar
CTD		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B IAGP ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement OMIM
ClinVar		 PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 More... NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		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 AC005224.3 novel transcript IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,303,740...14,305,745
Ensembl chr17:14,303,854...14,305,505 		JBrowse link
G AC005772.1 uncharacterized LOC101928475 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,051,355...15,052,276
Ensembl chr17:15,014,805...15,052,276 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CDRT15 CMT1A duplicated region transcript 15 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,235,673...14,236,862
Ensembl chr17:14,235,673...14,236,862 		JBrowse link
G CDRT3 CMT1A duplicated region transcript 3 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,470,311...15,470,836 JBrowse link
G CDRT4 CMT1A duplicated region transcript 4 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,436,015...15,467,621
Ensembl chr17:15,436,015...15,475,728 		JBrowse link
G CDRT7 CMT1A duplicated region transcript 7 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,030,975...15,031,957
Ensembl chr17:15,030,975...15,031,957 		JBrowse link
G CDRT8 CMT1A duplicated region transcript 8 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,104,985...15,106,187
Ensembl chr17:15,104,979...15,107,133 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736 		JBrowse link
G FBXW10B F-box and WD repeat domain containing 10B IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,565,482...15,619,704
Ensembl chr17:15,565,483...15,619,704 		JBrowse link
G HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,301,081...14,349,404
Ensembl chr17:14,301,081...14,349,404 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:16288874 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC105943586 distal CMT1A-REP IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,170,534...14,194,724 JBrowse link
G LOC105943587 proximal CMT1A-REP IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,567,585...15,591,587 JBrowse link
G LOC112529896 MED14-independent group 3 enhancer GRCh37_chr17:15393660-15394859 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,490,346...15,491,545 JBrowse link
G LOC125177427 Sharpr-MPRA regulatory region 6604 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,516,235...15,516,529 JBrowse link
G LOC126862511 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:14276639-14277838 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,373,322...14,374,521 JBrowse link
G LOC126862512 MED14-independent group 3 enhancer GRCh37_chr17:15009287-15010486 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,105,970...15,107,169 JBrowse link
G LOC126862513 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:15181646-15182845 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,278,329...15,279,528 JBrowse link
G LOC130060304 ATAC-STARR-seq lymphoblastoid silent region 8208 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,302,567...14,302,866 JBrowse link
G LOC130060305 ATAC-STARR-seq lymphoblastoid silent region 8209 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,309,557...14,309,616 JBrowse link
G LOC130060306 ATAC-STARR-seq lymphoblastoid silent region 8210 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,359,546...14,359,615 JBrowse link
G LOC130060307 ATAC-STARR-seq lymphoblastoid silent region 8211 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,260,892...15,261,011 JBrowse link
G LOC132090456 Neanderthal introgressed variant-containing enhancer experimental_47071 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:14,201,815...14,201,984 JBrowse link
G MIR4731 microRNA 4731 IAGP ClinVar Annotator: match by term: Hereditary liability to pressure palsies
ClinVar Annotator: match by term: Tomaculous neuropathy		 ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,251,627...15,251,696
Ensembl chr17:15,251,627...15,251,696 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Hereditary liability to pressure palsies
ClinVar Annotator: match by term: Tomaculous neuropathy
ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies
OMIM:162500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 More... NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G TEKT3 tektin 3 IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,303,812...15,343,671
Ensembl chr17:15,303,811...15,341,632 		JBrowse link
G TVP23C trans-golgi network vesicle protein 23 homolog C IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,502,264...15,563,483
Ensembl chr17:15,502,264...15,563,595 		JBrowse link
G TVP23C-CDRT4 TVP23C-CDRT4 readthrough IAGP ClinVar Annotator: match by term: Tomaculous neuropathy ClinVar PMID:7825607 PMID:8422677 PMID:8541860 PMID:12439896 PMID:18698610 More... NCBI chr17:15,436,015...15,563,483
Ensembl chr17:15,436,021...15,563,561 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 18
ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		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 IAGP ClinVar Annotator: match by term: Hip contracture ClinVar PMID:17561957 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004025 ATAC-STARR-seq lymphoblastoid silent region 2461 IAGP ClinVar Annotator: match by term: H syndrome ClinVar PMID:16199547 PMID:19336477 PMID:20595384 PMID:22653152 PMID:23406517 More... NCBI chr10:71,319,056...71,319,505 JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP
EXP		 ClinVar Annotator: match by term: H syndrome
ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
ClinVar Annotator: match by term: Faisalabad histiocytosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr19:49,453,225...49,471,050
Ensembl chr19:49,453,225...49,471,050 		JBrowse link
G CCDC160 coiled-coil domain containing 160 IAGP ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:134,237,182...134,246,842
Ensembl chr  X:134,237,047...134,246,842 		JBrowse link
G GPC3 glypican 3 IAGP ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP
EXP		 ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar Annotator: match by term: HPRT1-Related Disorders
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G LOC107032760 origin of replication in promoter/intron 1 of HPRT1 IAGP ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:1301916 PMID:2928313 PMID:8125482 PMID:9799086 PMID:11018746 More... NCBI chr  X:134,460,082...134,465,691 JBrowse link
G LOC129929047 ATAC-STARR-seq lymphoblastoid silent region 21009 IAGP ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:1301916 PMID:2928313 PMID:8125482 PMID:9799086 PMID:11018746 More... NCBI chr  X:134,460,257...134,460,436 JBrowse link
G MIR106A microRNA 106a IAGP ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:134,170,198...134,170,278
Ensembl chr  X:134,170,198...134,170,278 		JBrowse link
G MIR19B2 microRNA 19b-2 IAGP ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:134,169,671...134,169,766
Ensembl chr  X:134,169,671...134,169,766 		JBrowse link
G PHF6 PHD finger protein 6 IAGP ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		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 IAGP 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 chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		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 NFATC2 nuclear factor of activated T cells 2 IAGP OMIM NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		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 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Joint laxity ClinVar NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 More... NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COMP cartilage oligomeric matrix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:9887340 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FKBP14-AS1 FKBP14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 7:29,988,656...30,027,241 JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:26392352 PMID:28492532 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SELENON selenoprotein N IAGP ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G ZNF469 zinc finger protein 469 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joint hypermobility
ClinVar Annotator: match by term: Joint laxity		 CTD
ClinVar		 PMID:18452888 PMID:25741868 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		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 IAGP ClinVar Annotator: match by term: GZF1-related condition
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 chr20:23,361,127...23,373,062
Ensembl chr20:23,362,182...23,373,062 		JBrowse link
Juvenile Pauciarticular Chronic Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human) RGD PMID:7955632 RGD:7365102 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:132,317,407...132,368,302
Ensembl chr 3:132,317,369...132,368,302 		JBrowse link
G ACRBP acrosin binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:6,638,075...6,647,432
Ensembl chr12:6,638,075...6,647,433 		JBrowse link
G ADCY7 adenylate cyclase 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:50,244,699...50,318,135
Ensembl chr16:50,246,137...50,318,135 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754 		JBrowse link
G ANKRD9 ankyrin repeat domain 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799 		JBrowse link
G AOPEP aminopeptidase O (putative) EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr22:38,957,609...38,963,184
Ensembl chr22:38,952,741...38,963,184 		JBrowse link
G AQP9 aquaporin 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:58,138,169...58,185,911
Ensembl chr15:58,138,169...58,185,911 		JBrowse link
G AREG amphiregulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005 		JBrowse link
G ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:130,052,104...130,443,674
Ensembl chr 8:130,052,104...130,443,674 		JBrowse link
G AVL9 AVL9 cell migration associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:32,495,489...32,588,726
Ensembl chr 7:32,495,426...32,588,726 		JBrowse link
G B4GALT5 beta-1,4-galactosyltransferase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:49,632,945...49,713,878
Ensembl chr20:49,632,945...49,713,878 		JBrowse link
G BEND2 BEN domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:18,162,931...18,220,886
Ensembl chr  X:18,162,931...18,220,886 		JBrowse link
G BLTP3B bridge-like lipid transfer protein family member 3B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:100,037,072...100,142,874
Ensembl chr12:100,028,455...100,142,874 		JBrowse link
G BTG1 BTG anti-proliferation factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:92,140,278...92,145,846
Ensembl chr12:92,140,278...92,145,846 		JBrowse link
G BTG3 BTG anti-proliferation factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr21:17,593,653...17,612,901
Ensembl chr21:17,593,653...17,612,945 		JBrowse link
G C2orf88 chromosome 2 open reading frame 88 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:189,879,562...190,203,484
Ensembl chr 2:189,879,609...190,203,484 		JBrowse link
G C8B complement C8 beta chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:7980680 NCBI chr 1:56,929,207...56,966,015
Ensembl chr 1:56,929,207...56,974,383 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G CALD1 caldesmon 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:134,745,467...134,970,729
Ensembl chr 7:134,744,252...134,970,729 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CCDC122 coiled-coil domain containing 122 IAGP ClinVar Annotator: match by term: JUVENILE ARTHRITIS ClinVar PMID:25741868 NCBI chr13:43,819,018...43,879,740
Ensembl chr13:43,823,909...43,879,740 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association IAGP DNA:polymorphisms: :multiple (human)
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)		 RGD PMID:16775617 PMID:17565662 RGD:1626284, RGD:1626283 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD14 CD14 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700 		JBrowse link
G CD83 CD83 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:14,117,256...14,136,918
Ensembl chr 6:14,117,256...14,140,682 		JBrowse link
G CD8B CD8 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:86,815,369...86,861,886
Ensembl chr 2:86,815,339...86,861,924 		JBrowse link
G CIITA class II major histocompatibility complex transactivator susceptibility
no_association		 IAGP DNA:polymorphism:exon:1614G>C (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort		 RGD PMID:17661914 PMID:16426246 RGD:5491187, RGD:5491189 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CLU clusterin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G CMTM2 CKLF like MARVEL transmembrane domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:66,579,463...66,588,275
Ensembl chr16:66,579,448...66,588,275 		JBrowse link
G CREM cAMP responsive element modulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:35,126,846...35,212,958
Ensembl chr10:35,126,791...35,212,958 		JBrowse link
G CRP C-reactive protein IEP protein:increased expression:serum RGD PMID:22885951 RGD:6906884 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTTN cortactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:70,398,529...70,436,575
Ensembl chr11:70,398,404...70,436,584 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 PMID:26387944 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G DAPK1 death associated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737 		JBrowse link
G DUSP1 dual specificity phosphatase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G DUSP2 dual specificity phosphatase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:96,143,169...96,145,440
Ensembl chr 2:96,143,166...96,145,440 		JBrowse link
G DUSP4 dual specificity phosphatase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:29,333,064...29,350,684
Ensembl chr 8:29,333,064...29,350,684 		JBrowse link
G DYSF dysferlin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EGF epidermal growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G EGR1 early growth response 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ELF2 E74 like ETS transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:139,057,220...139,177,915
Ensembl chr 4:139,028,112...139,177,218 		JBrowse link
G ETNK1 ethanolamine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:22,625,171...22,690,665
Ensembl chr12:22,625,075...22,690,665 		JBrowse link
G ETV6 ETS variant transcription factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:11,649,674...11,895,377
Ensembl chr12:11,649,674...11,895,377 		JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G FAXDC2 fatty acid hydroxylase domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:154,818,492...154,850,603
Ensembl chr 5:154,818,492...154,859,252 		JBrowse link
G FCGR1A Fc gamma receptor Ia EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:149,782,694...149,800,609
Ensembl chr 1:149,782,671...149,791,675 		JBrowse link
G FCHSD2 FCH and double SH3 domains 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:72,836,745...73,142,318
Ensembl chr11:72,836,745...73,142,318 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FOSB FosB proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:45,467,996...45,475,179
Ensembl chr19:45,467,995...45,475,179 		JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317 		JBrowse link
G FOXP1 forkhead box P1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G GADD45A growth arrest and DNA damage inducible alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:67,685,201...67,688,334
Ensembl chr 1:67,685,201...67,688,334 		JBrowse link
G GMPR guanosine monophosphate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:16,238,587...16,295,549
Ensembl chr 6:16,238,587...16,295,549 		JBrowse link
G GNG11 G protein subunit gamma 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:93,921,735...93,928,610
Ensembl chr 7:93,921,735...93,928,610 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion: : RGD PMID:18328165 RGD:5490992
G H2AC8 H2A clustered histone 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:26,216,921...26,217,437
Ensembl chr 6:26,216,921...26,218,515 		JBrowse link
G H2BC8 H2B clustered histone 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:26,216,200...26,216,688
Ensembl chr 6:26,216,200...26,216,688 		JBrowse link
G HBEGF heparin binding EGF like growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603 		JBrowse link
G HERPUD2 HERPUD family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:35,632,659...35,695,135
Ensembl chr 7:35,632,659...35,697,459 		JBrowse link
G HFE homeostatic iron regulator IAGP DNA:missense mutation:cds:p.C282Y (human) RGD PMID:16047841 RGD:8694357 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IEP
IAGP		 DNA:polymorphism (human) RGD PMID:19811310 PMID:10457895 RGD:5147815, RGD:5147863 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism (human) RGD PMID:10457895 RGD:5147863 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:19908388 PMID:10457895 RGD:5147587, RGD:5147863 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSPA6 heat shock protein family A (Hsp70) member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:161,524,540...161,526,894
Ensembl chr 1:161,524,540...161,526,894 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP protein:increased expression:serum,synovial fluid: RGD PMID:8255671 RGD:12910480 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G IGF1R insulin like growth factor 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL1A interleukin 1 alpha IAGP DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1RN interleukin 1 receptor antagonist EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 IEP protein:increased expression:mononuclear cell RGD PMID:21859687 RGD:5147870 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum: RGD PMID:9489833 RGD:7829742 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G ITGA2B integrin subunit alpha 2b EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB5 integrin subunit beta 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G JMJD1C jumonji domain containing 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048 		JBrowse link
G KAT6B lysine acetyltransferase 6B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNJ15 potassium inwardly rectifying channel subfamily J member 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr21:38,229,926...38,307,357
Ensembl chr21:38,155,549...38,307,357 		JBrowse link
G KLF4 KLF transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:107,484,852...107,489,769
Ensembl chr 9:107,484,852...107,490,482 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LACC1 laccase domain containing 1 IAGP ClinVar Annotator: match by term: JUVENILE ARTHRITIS OMIM
ClinVar		 PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 More... NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G LILRA5 leukocyte immunoglobulin like receptor A5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:54,307,070...54,313,166
Ensembl chr19:54,307,070...54,313,166 		JBrowse link
G LPP LIM domain containing preferred translocation partner in lipoma EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:188,153,021...188,890,671
Ensembl chr 3:188,153,284...188,890,671 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G MAFF MAF bZIP transcription factor F EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr22:38,201,994...38,216,511
Ensembl chr22:38,200,767...38,216,507 		JBrowse link
G MAML2 mastermind like transcriptional coactivator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:95,976,598...96,343,195
Ensembl chr11:95,976,598...96,343,195 		JBrowse link
G MAP2 microtubule associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MBL2 mannose binding lectin 2 IEP RGD PMID:18334024 RGD:12910845 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MEX3C mex-3 RNA binding family member C EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:51,174,550...51,197,681
Ensembl chr18:51,174,550...51,218,333 		JBrowse link
G MIR22HG MIR22 host gene EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:1,711,504...1,716,210
Ensembl chr17:1,711,447...1,717,174 		JBrowse link
G MS4A4A membrane spanning 4-domains A4A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:60,280,666...60,308,970
Ensembl chr11:60,185,657...60,318,080 		JBrowse link
G MSN moesin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:65,588,377...65,741,931
Ensembl chr  X:65,588,377...65,741,931 		JBrowse link
G MTSS1 MTSS I-BAR domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:124,550,784...124,728,473
Ensembl chr 8:124,550,784...124,728,473 		JBrowse link
G MYZAP myocardial zonula adherens protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:57,591,904...57,685,364
Ensembl chr15:57,591,904...57,685,364 		JBrowse link
G NDEL1 nudE neurodevelopment protein 1 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:8,413,131...8,474,328
Ensembl chr17:8,413,131...8,490,411 		JBrowse link
G NEAT1 nuclear paraspeckle assembly transcript 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,278...65,445,540 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891 		JBrowse link
G NRG1 neuregulin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:10,158,301...10,176,266
Ensembl chr12:10,158,301...10,172,138 		JBrowse link
G OSM oncostatin M EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr22:30,262,829...30,266,851
Ensembl chr22:30,262,829...30,266,851 		JBrowse link
G PACSIN2 protein kinase C and casein kinase substrate in neurons 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr22:42,869,766...43,015,149
Ensembl chr22:42,835,412...43,015,149 		JBrowse link
G PCYT1B phosphate cytidylyltransferase 1B, choline EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:24,558,087...24,672,887
Ensembl chr  X:24,558,087...24,672,677 		JBrowse link
G PER1 period circadian regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:8,140,472...8,152,404
Ensembl chr17:8,140,467...8,156,506 		JBrowse link
G PGM5 phosphoglucomutase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:68,356,611...68,531,061
Ensembl chr 9:68,328,308...68,531,061 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547 		JBrowse link
G PLK2 polo like kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:58,453,982...58,460,086
Ensembl chr 5:58,453,982...58,460,139 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PROS1 protein S EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA: snp : cds : rs2476601 RGD PMID:15934099 RGD:6484550 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G R3HDM2 R3H domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:57,253,764...57,431,141
Ensembl chr12:57,253,762...57,431,043 		JBrowse link
G RASGEF1B RasGEF domain family member 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:81,426,393...81,471,907
Ensembl chr 4:81,426,393...82,044,244 		JBrowse link
G RBM47 RNA binding motif protein 47 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:40,423,280...40,630,852
Ensembl chr 4:40,423,267...40,630,875 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RHOBTB1 Rho related BTB domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:60,860,860...61,001,967
Ensembl chr10:60,869,438...61,001,440 		JBrowse link
G RNF103 ring finger protein 103 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:86,603,393...86,623,877
Ensembl chr 2:86,603,398...86,623,866 		JBrowse link
G SELP selectin P severity IEP protein:increased expression:plasma RGD PMID:21124648 RGD:6219006 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193 		JBrowse link
G SH2D2A SH2 domain containing 2A IAGP DNA:polymorphism:promoter RGD PMID:15129233 RGD:2298870 NCBI chr 1:156,806,243...156,816,848
Ensembl chr 1:156,806,240...156,816,848 		JBrowse link
G SH3BGRL2 SH3 domain binding glutamate rich protein like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:79,537,633...79,703,655
Ensembl chr 6:79,537,185...79,703,655 		JBrowse link
G SIK1 salt inducible kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SIPA1L1 signal induced proliferation associated 1 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:71,320,476...71,741,209
Ensembl chr14:71,320,449...71,741,229 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP
EXP		 DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16597321 PMID:10857800 RGD:5684977 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC22A16 solute carrier family 22 member 16 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:110,424,687...110,476,613
Ensembl chr 6:110,424,687...110,476,641 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 susceptibility IAGP DNA:SNPs: : RGD PMID:17393463 RGD:13208931 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SMAD3 SMAD family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G STAB1 stabilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:52,495,338...52,524,495
Ensembl chr 3:52,495,338...52,524,495 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STIM1 stromal interaction molecule 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TCF7L2 transcription factor 7 like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678 		JBrowse link
G TFDP1 transcription factor Dp-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr13:113,584,688...113,641,473
Ensembl chr13:113,584,721...113,641,473 		JBrowse link
G TFPI tissue factor pathway inhibitor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760 		JBrowse link
G THBD thrombomodulin IEP protein:increased expression:serum RGD PMID:15209962 RGD:5685023 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G THBS1 thrombospondin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466 		JBrowse link
G TNFAIP6 TNF alpha induced protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:151,357,592...151,381,340
Ensembl chr 2:151,357,592...151,380,046 		JBrowse link
G TNFAIP8 TNF alpha induced protein 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:119,268,759...119,399,688
Ensembl chr 5:119,268,692...119,399,688 		JBrowse link
G TNFRSF10C TNF receptor superfamily member 10c EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:23,102,921...23,117,445
Ensembl chr 8:23,102,921...23,117,445 		JBrowse link
G TNIK TRAF2 and NCK interacting kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:171,058,414...171,460,408
Ensembl chr 3:171,058,414...171,460,408 		JBrowse link
G TREML1 triggering receptor expressed on myeloid cells like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:41,149,260...41,155,403
Ensembl chr 6:41,149,337...41,154,347 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079 		JBrowse link
G TUBB2A tubulin beta 2A class IIa EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544 		JBrowse link
G UBE2E1 ubiquitin conjugating enzyme E2 E1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:23,805,955...23,891,640
Ensembl chr 3:23,805,955...23,891,640 		JBrowse link
G UBE3C ubiquitin protein ligase E3C EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370 		JBrowse link
G WASF3 WASP family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr13:26,539,139...26,688,948
Ensembl chr13:26,557,683...26,688,948 		JBrowse link
G WWOX WW domain containing oxidoreductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G ZFAND3 zinc finger AN1-type containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:37,819,727...38,154,624
Ensembl chr 6:37,819,727...38,154,624 		JBrowse link
G ZFC3H1 zinc finger C3H1-type containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:71,609,599...71,663,848
Ensembl chr12:71,609,599...71,667,725 		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 IEP protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883 		JBrowse link
G ANXA5 annexin A5 disease_progression IEP protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G AR androgen receptor IAGP DNA:repeat:exon:c.172(CAG)8-34 (human) RGD PMID:16098017 RGD:10043199 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ASPN asporin severity IEP
IAGP		 mRNA:increased expression:cartilage:
DNA:repeats:exon:		 RGD PMID:15640800 PMID:15640800 RGD:9684965, RGD:9684965 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G B2M beta-2-microglobulin IEP protein:increased expression:serum RGD PMID:18795399 RGD:6482710 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:20131282 RGD:6907382 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:20131282 RGD:6907382 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP
ISO		 RGD PMID:22294259 PMID:21387139 RGD:6483563, RGD:6483595 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA,protein:increased expression:dorsal root ganglion: RGD PMID:23185004 RGD:8661785 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) disease_progression IEP
ISO		 RGD PMID:21765106 PMID:19342682 RGD:6893494, RGD:6893565 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:cartilage: RGD PMID:22702043 RGD:10395278 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP DNA:SNP:intron, 5' utr: (rs1062033) (human) RGD PMID:20417295 RGD:10045662 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO RGD PMID:31258642 RGD:150519887 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DGAT2 diacylglycerol O-acyltransferase 2 severity IEP mRNA,protein:increased expression:fat pad: RGD PMID:21765106 RGD:6893494 NCBI chr11:75,768,778...75,801,534
Ensembl chr11:75,759,512...75,801,535 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO RGD PMID:20131282 RGD:6907382 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G EEF1A1 eukaryotic translation elongation factor 1 alpha 1 ISO RGD PMID:25435813 RGD:13506963 NCBI chr 6:73,515,750...73,521,032
Ensembl chr 6:73,489,308...73,525,587 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IEP protein:increased expression:serum: RGD PMID:22275171 RGD:10401792 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 no_association IAGP DNA:SNP:5' utr: (rs17039192) (human) RGD PMID:22247019 PMID:20495570 RGD:10395367, RGD:10395368 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G EPO erythropoietin treatment IDA RGD PMID:25422652 RGD:10400892 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G ESR1 estrogen receptor 1 IAGP DNA:repeat:promoter:-1174(TA)9-25 (human)
DNA:polymorphisms, haplotype:intron, exon
DNA:SNP:cds:c.1782G>A (rs2228480) (human)
DNA:SNPs:intron: (rs2234693, rs9340799) (human)		 RGD PMID:16098017 PMID:15380041 PMID:20128071 PMID:24772413 RGD:10043199, RGD:10045840, RGD:10045835, RGD:10045829 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 IAGP DNA:repeat:intron:c.1092+3607(CA)13-27 (human) RGD PMID:16098017 RGD:10043199 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G F2 coagulation factor II, thrombin IDA RGD PMID:21041276 RGD:5147774 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 treatment ISO RGD PMID:27159076 RGD:11568056 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GDF5 growth differentiation factor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GSR glutathione-disulfide reductase IEP protein:increased expression:synovial fluid RGD PMID:16289733 RGD:10401830 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G HMGB1 high mobility group box 1 severity IEP protein:increased expression:synovial fluid
mRNA:decreased expression:articular cartilage		 RGD PMID:21968272 PMID:19139395 RGD:10402061, RGD:10402184 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		JBrowse link
G HMGB2 high mobility group box 2 severity IEP
ISO		 mRNA:decreased expression:articular cartilage RGD PMID:19139395 PMID:19139395 RGD:10402184, RGD:10402184 NCBI chr 4:173,331,376...173,334,358
Ensembl chr 4:173,331,376...173,334,432 		JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO
IEP		 mRNA:increased expression:tibial plateaux (mouse)
mRNA:decreased expression:blood (human)		 RGD PMID:9497939 PMID:16139532 RGD:10412655, RGD:10429075 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699 		JBrowse link
G IGF1 insulin like growth factor 1 disease_progression
severity		 IEP
ISO		 protein:decreased expression:plasma (rat)
mRNA:increased expression:meniscus:		 RGD PMID:8461919 PMID:17133593 PMID:9497937 PMID:20633672 RGD:10045862, RGD:10003130, RGD:10046057, RGD:10045868 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IEP RGD PMID:8948288 RGD:10045874 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IL1A interleukin 1 alpha ISO
IEP		 protein:increased expression:cartilage cell: RGD PMID:24534736 PMID:9497937 PMID:9034998 RGD:10045944, RGD:10046057, RGD:10045946 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL2 interleukin 2 severity IEP protein:increased expression:synovial fluid: RGD PMID:22035391 RGD:5687147 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL4 interleukin 4 susceptibility ISO
IAGP		 DNA:repeat:intron: (rs8179190) (human) RGD PMID:18182309 PMID:24406619 RGD:2317291, RGD:10402787 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G KL klotho susceptibility IAGP DNA:SNPs:promoter,exon:395G>A,2998C>T(human) RGD PMID:18465812 RGD:10403041 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LEP leptin IEP protein:decreased expression:serum: RGD PMID:23575542 RGD:10411887 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor susceptibility IEP
IAGP		 protein:increased expression:serum
DNA:SNP:CDS:668A>G (human)		 RGD PMID:23575542 PMID:23575542 RGD:10411887, RGD:10411887 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LPAR1 lysophosphatidic acid receptor 1 susceptibility IAGP DNA:snp:promoter:g.-2820G>A (rs10980705) (human) RGD PMID:18325907 RGD:10054291 NCBI chr 9:110,873,263...111,038,998
Ensembl chr 9:110,873,263...111,038,470 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G MIR219A1 microRNA 219a-1 EXP CTD Direct Evidence: therapeutic CTD PMID:35962723 NCBI chr 6:33,207,835...33,207,944
Ensembl chr 6:33,207,835...33,207,944 		JBrowse link
G MIR223 microRNA 223 ISO RNA:increased expression:synovial membrane RGD PMID:30106113 RGD:25824950 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979 		JBrowse link
G MMP1 matrix metallopeptidase 1 treatment ISO RGD PMID:21167838 RGD:8549737 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP13 matrix metallopeptidase 13 ameliorates ISO RGD PMID:31258642 RGD:150519887 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:22114772 RGD:8694098 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G PENK proenkephalin treatment ISO RGD PMID:21928671 RGD:10003115 NCBI chr 8:56,440,957...56,446,641
Ensembl chr 8:56,436,674...56,446,671 		JBrowse link
G PTGES prostaglandin E synthase ISO RGD PMID:17530714 RGD:2300093 NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042 		JBrowse link
G SBNO1 strawberry notch homolog 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr12:123,289,109...123,364,847
Ensembl chr12:123,289,109...123,364,847 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 susceptibility IAGP DNA:deletion:promoter:-716_-713del4A(human) RGD PMID:11558903 RGD:13208866 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G TGFA transforming growth factor alpha IEP mRNA:increased expression:cartilage RGD PMID:17968906 RGD:2317486 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G WWP2 WW domain containing E3 ubiquitin protein ligase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr16:69,762,332...69,941,739
Ensembl chr16:69,762,328...69,941,741 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome ClinVar PMID:25741868 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G LOC101929270 uncharacterized LOC101929270 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome ClinVar PMID:25741868 NCBI chr 9:128,528,611...128,552,413 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 IAGP
EXP		 ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1
ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 More... NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G LOC101929270 uncharacterized LOC101929270 IAGP 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		 ClinVar PMID:18204449 PMID:24961629 PMID:25741868 PMID:28492532 PMID:28884921 More... NCBI chr 9:128,528,611...128,552,413 JBrowse link
G LOC130002710 ATAC-STARR-seq lymphoblastoid silent region 20344 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 ClinVar PMID:25741868 NCBI chr 9:128,504,530...128,504,739 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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:26908619 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11
ClinVar Annotator: match by term: GLDN-related condition | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11		 ClinVar
OMIM		 PMID:25741868 PMID:27616481 PMID:28492532 PMID:28726266 PMID:31680123 More... NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		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 IAGP
EXP		 ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:17701904 PMID:25741868 PMID:31752936 PMID:33935161 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		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 IAGP
EXP		 ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17701898 PMID:25741868 PMID:37451268 PMID:38491417 NCBI chr19:3,630,183...3,700,468
Ensembl chr19:3,630,183...3,700,468 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 ClinVar
OMIM		 PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 ClinVar
OMIM		 PMID:18414213 PMID:23092955 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 OMIM
ClinVar		 PMID:25055871 PMID:25741868 NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 ClinVar
OMIM		 PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 More... NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G LOC125177481 Sharpr-MPRA regulatory region 245 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:42,683,771...42,684,065 JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 ClinVar PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 ClinVar PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar
OMIM		 PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089 		JBrowse link
G SPMIP11 sperm microtubule inner protein 11 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr12:48,727,435...48,771,459
Ensembl chr12:48,727,435...48,765,790 		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 IAGP ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:26004201 PMID:26752647 PMID:28492532 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		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 IAGP
EXP		 ClinVar Annotator: match by term: Marden-Walker syndrome
ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24726473 PMID:25741868 PMID:28492532 PMID:30988732 PMID:31589614 More... NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		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 IAGP
EXP		 ClinVar Annotator: match by term: Miles-Carpenter syndrome | 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPG alkaline phosphatase, germ cell IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:232,406,844...232,410,714
Ensembl chr 2:232,406,844...232,410,714 		JBrowse link
G ALPI alkaline phosphatase, intestinal IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:232,456,153...232,460,753
Ensembl chr 2:232,456,125...232,460,753 		JBrowse link
G ALPP alkaline phosphatase, placental IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:232,378,751...232,382,889
Ensembl chr 2:232,378,724...232,382,889 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G LOC122861243 Sharpr-MPRA regulatory region 14969 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:174,761,881...174,762,175 JBrowse link
G LOC129935149 ATAC-STARR-seq lymphoblastoid active region 16786 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:174,751,118...174,751,297 JBrowse link
G LOC129935150 ATAC-STARR-seq lymphoblastoid silent region 12130 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:174,752,645...174,752,714 JBrowse link
G LOC129935864 ATAC-STARR-seq lymphoblastoid active region 17323 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:232,541,514...232,541,573 JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716 		JBrowse link
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		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 IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome		 ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr20:35,437,929...35,438,683 JBrowse link
G NOG noggin IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)		 ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		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 ISS OMIM:161200 MouseDO NCBI chr10:102,102,088...102,121,442
Ensembl chr10:102,106,489...102,120,368 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP
ISS
EXP		 ClinVar Annotator: match by term: Nail-patella syndrome
ClinVar Annotator: match by term: LMX1B-related condition | ClinVar Annotator: match by term: Nail-patella syndrome
OMIM:161200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:9536098 PMID:9590287 PMID:9618165 PMID:9837817 PMID:10425280 More... RGD:1599751, RGD:1599750 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LMX1B-DT LMX1B divergent transcript IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,608,113...126,613,799
Ensembl chr 9:126,589,327...126,613,761 		JBrowse link
G LOC121366026 H3K4me1 hESC enhancers GRCh37_chr9:129467063-129467788 and GRCh37_chr9:129467789-129468514 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,704,784...126,706,235 JBrowse link
G LOC124310647 Sharpr-MPRA regulatory region 8141 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,665,430...126,666,441 JBrowse link
G LOC130002615 ATAC-STARR-seq lymphoblastoid silent region 20288 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,514,366...126,514,425 JBrowse link
G LOC130002616 ATAC-STARR-seq lymphoblastoid active region 29016 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,517,101...126,517,190 JBrowse link
G LOC130002617 ATAC-STARR-seq lymphoblastoid silent region 20289 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,611,634...126,611,703 JBrowse link
G LOC130002618 ATAC-STARR-seq lymphoblastoid active region 29018 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,722,048...126,722,107 JBrowse link
G LOC130002619 ATAC-STARR-seq lymphoblastoid silent region 20290 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,722,348...126,722,957 JBrowse link
G LOC130002620 ATAC-STARR-seq lymphoblastoid silent region 20291 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,723,018...126,723,097 JBrowse link
G LOC132089664 Neanderthal introgressed variant-containing enhancer experimental_106628 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,586,160...126,586,329 JBrowse link
G LOC132089665 Neanderthal introgressed variant-containing enhancer experimental_106693 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,779,553...126,779,722 JBrowse link
G LOC132089666 Neanderthal introgressed variant-containing enhancer experimental_106710 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,792,339...126,792,508 JBrowse link
G MVB12B multivesicular body subunit 12B IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,326,829...126,507,040
Ensembl chr 9:126,326,829...126,507,041 		JBrowse link
G ZBTB43 zinc finger and BTB domain containing 43 IAGP ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 9:126,804,072...126,838,210
Ensembl chr 9:126,805,006...126,838,210 		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 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 PMID:34837432 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CZ1P-ASNS CZ1P-ASNS readthrough IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 7:97,852,117...97,972,358 JBrowse link
G DCX doublecortin IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXG1 forkhead box G1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337 		JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr11:17,734,781...17,783,057
Ensembl chr11:17,734,774...17,856,804 		JBrowse link
G KIF2A kinesin family member 2A IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 5:62,306,206...62,391,025
Ensembl chr 5:62,306,162...62,391,025 		JBrowse link
G LOC125467768 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:99657381-99658580 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr  X:100,402,351...100,403,582 JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:26704558 PMID:28492532 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19366826 PMID:22228622 PMID:22729224 PMID:22949682 PMID:25157968 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G RNF113A ring finger protein 113A IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:31904124 PMID:35701389 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31495489 PMID:37880672 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2A tubulin beta 2A class IIa IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G WDR62 WD repeat domain 62 IAGP ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		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 IAGP
EXP		 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5491443 PMID:25741868 PMID:28317099 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type ClinVar PMID:25741868 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		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 IAGP
EXP		 DNA:mutations:cds:multiple (human)
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
ClinVar Annotator: match by term: Mental retardation unusual facies hypothyroidism
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953 		JBrowse link
G ACAN aggrecan treatment ISO RGD PMID:22833446 PMID:21853458 RGD:11570535, RGD:11570544 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACO1 aconitase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:32,384,643...32,454,769
Ensembl chr 9:32,384,603...32,454,769 		JBrowse link
G ACTB actin beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ADAM12 ADAM metallopeptidase domain 12 susceptibility IAGP RGD PMID:15334463 RGD:1625347 NCBI chr10:126,012,391...126,388,477
Ensembl chr10:126,012,381...126,388,477 		JBrowse link
G ADAM15 ADAM metallopeptidase domain 15 ISO RGD PMID:15818704 RGD:1559176 NCBI chr 1:155,051,316...155,062,775
Ensembl chr 1:155,050,566...155,062,775 		JBrowse link
G ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 IAGP DNA:missense mutation:cds: (rs4747096) (human) RGD PMID:18790654 RGD:6771189 NCBI chr10:70,672,506...70,762,441
Ensembl chr10:70,672,506...70,762,441 		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 chr 1:161,184,302...161,199,054
Ensembl chr 1:161,184,302...161,199,054 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 treatment
disease_progression
no_association		 ISO
IEP
IAGP		 associated with Bone Diseases, Metabolic
mRNA:increased expression:cartilage
protein:alternative form:synovium
DNA:missense mutations:exon: (rs226794, rs2830585) (human)
DNA:missense mutation:exon:p.R614H (human)		 RGD PMID:23982761 PMID:22432033 PMID:17530714 PMID:22084394 PMID:23954517 More... RGD:10043101, RGD:10043110, RGD:2300093, RGD:10003165, RGD:10043107, RGD:10043106, RGD:10043105, RGD:10043103, RGD:10043102 NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088 		JBrowse link
G ADGRG2 adhesion G protein-coupled receptor G2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16948116 PMID:23894457 RGD:8695985 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AK4 adenylate kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:65,147,552...65,232,145
Ensembl chr 1:65,147,549...65,232,145 		JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283 		JBrowse link
G AKR1C2 aldo-keto reductase family 1 member C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031 		JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24728293 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G ASPN asporin no_association IAGP
EXP		 DNA:repeats:exon:
CTD Direct Evidence: marker/mechanism		 OMIM
CTD
RGD		 PMID:16542493 RGD:9684966 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		JBrowse link
G ATP7A ATPase copper transporting alpha ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BAD BCL2 associated agonist of cell death IEP RGD PMID:19217321 RGD:10053643 NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704 		JBrowse link
G BAG6 BAG cochaperone 6 susceptibility IAGP DNA:SNP: :rs3117582(human) RGD PMID:25231575 RGD:14390133 NCBI chr 6:31,639,028...31,652,661
Ensembl chr 6:31,639,028...31,652,705 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator IEP protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G BCL2 BCL2 apoptosis regulator IEP protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BECN1 beclin 1 IEP
ISO		 protein:decreased expression:cartilage RGD PMID:20187128 PMID:20187128 RGD:6483317, RGD:6483317 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein disease_progression IDA RGD PMID:20157712 RGD:6483599 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BMP2 bone morphogenetic protein 2 susceptibility IAGP RGD PMID:15334463 RGD:1625347 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BMP6 bone morphogenetic protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G CALCA calcitonin related polypeptide alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29138829 RGD:13782343 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:29138829 RGD:13782343 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534 		JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:16508959 RGD:10043354 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 IEP protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 IEP protein:increased expression:synovial membrane: RGD PMID:19942450 RGD:10054497 NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,957,120 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) susceptibility IAGP RGD PMID:15334463 RGD:1625347 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A treatment ISO RGD PMID:24009074 RGD:10043190 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta susceptibility ISO RGD PMID:22095691 RGD:10401214 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,734...50,192,690 		JBrowse link
G CHI3L1 chitinase 3 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CILP cartilage intermediate layer protein disease_progression IAGP RGD PMID:15334463 RGD:1625347 NCBI chr15:65,194,760...65,211,473
Ensembl chr15:65,194,760...65,211,473 		JBrowse link
G CLEC3B C-type lectin domain family 3 member B disease_progression IAGP RGD PMID:15334463 RGD:1625347 NCBI chr 3:45,026,303...45,036,071
Ensembl chr 3:45,001,548...45,036,071 		JBrowse link
G CLIC1 chloride intracellular channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763 		JBrowse link
G CLIC4 chloride intracellular channel 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:24,745,447...24,844,321
Ensembl chr 1:24,745,382...24,844,321 		JBrowse link
G CLU clusterin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 PMID:18784066 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL1A1 collagen type I alpha 1 chain no_association IAGP DNA:SNP:intron:IVS1 RGD PMID:10743824 RGD:5688331 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain onset
treatment		 IAGP
EXP
ISO		 DNA:missense mutation:exon:p.R75C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:9061443 PMID:16189708 PMID:16755660 PMID:19216861 RGD:8657384, RGD:8661226 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COMP cartilage oligomeric matrix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:7670472 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CTSD cathepsin D EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G CTSK cathepsin K EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:99,816,827...99,872,333
Ensembl chr 4:99,816,827...99,870,190 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 disease_progression IDA RGD PMID:24938620 RGD:150429973 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DPEP1 dipeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr16:89,613,308...89,641,540
Ensembl chr16:89,613,308...89,638,456 		JBrowse link
G DPYSL2 dihydropyrimidinase like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:26,514,031...26,658,175
Ensembl chr 8:26,514,031...26,658,178 		JBrowse link
G EDIL3 EGF like repeats and discoidin domains 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:83,940,554...84,384,880
Ensembl chr 5:83,940,554...84,384,880 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		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 chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EGR1 early growth response 1 IEP mRNA, protein: decreased expression RGD PMID:10806043 RGD:1626498 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ENO1 enolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO
IEP		 protein:increased expression:layer of synovial tissue, stromal cell
mRNA:increased expression:cartilage		 RGD PMID:21869830 PMID:12823854 PMID:20495569 PMID:20495569 RGD:10395364, RGD:10395366, RGD:10395365, RGD:10395365 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		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 chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERG ETS transcription factor ERG ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr21:38,367,261...38,661,783
Ensembl chr21:38,380,027...38,661,780 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 1:8,011,727...8,026,309
Ensembl chr 1:8,004,404...8,026,309 		JBrowse link
G ESD esterase D EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr13:46,771,256...46,797,700
Ensembl chr13:46,771,256...46,797,420 		JBrowse link
G ESR1 estrogen receptor 1 IAGP DNA:SNP:intron: (rs2234693) (human)
DNA:SNPs:introns: (rs2234693, rs9340799) (human)		 RGD PMID:20417295 PMID:19884274 RGD:10045662, RGD:10045830 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G ESR2 estrogen receptor 2 IAGP DNA:SNP:intron: (rs1256031) (human) RGD PMID:19884274 RGD:10045830 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G EZR ezrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:158,765,748...158,819,368
Ensembl chr 6:158,765,741...158,819,368 		JBrowse link
G FCGR2A Fc gamma receptor IIa IDA RGD PMID:8254199 RGD:5147984 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FGF18 fibroblast growth factor 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IDA RGD PMID:22393163 RGD:10402075 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP mRNA:increased expression:trabecular bone: RGD PMID:15781004 RGD:10402109 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FN1 fibronectin 1 IEP protein:increased expression:cartilage: RGD PMID:8646429 RGD:10402156 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FRZB frizzled related protein susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Osteoarthritis
ClinVar Annotator: match by term: Osteoarthritis susceptibility 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15210948 PMID:25741868 NCBI chr 2:182,833,275...182,866,637
Ensembl chr 2:182,833,275...182,866,637 		JBrowse link
G FTL ferritin light chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Osteoarthritis susceptibility 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:17384641 PMID:18830904 PMID:25741868 PMID:28492532 PMID:30664745 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDF5-AS1 GDF5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteoarthritis susceptibility 5 ClinVar PMID:25741868 NCBI chr20:35,433,029...35,434,651
Ensembl chr20:35,433,029...35,435,450 		JBrowse link
G GH1 growth hormone 1 IEP protein:increased expression:plasma RGD PMID:7152485 RGD:10003140 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHR growth hormone receptor IAGP DNA:deletion:exon: RGD PMID:23740230 RGD:10003113 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GLS glutaminase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552 		JBrowse link
G GSTK1 glutathione S-transferase kappa 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:143,263,441...143,269,115
Ensembl chr 7:143,244,093...143,270,854 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HBP1 HMG-box transcription factor 1 IEP RGD PMID:22586168 RGD:10402054 NCBI chr 7:107,169,003...107,202,522
Ensembl chr 7:107,168,961...107,202,522 		JBrowse link
G HFE homeostatic iron regulator IAGP DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IEP
ISO		 protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 PMID:18789153 RGD:10395366, RGD:10402406 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HMGB1 high mobility group box 1 ISO RGD PMID:22330250 RGD:10401949 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945 		JBrowse link
G IFNA1 interferon alpha 1 treatment ISO RGD PMID:30456844 RGD:36174218 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316 		JBrowse link
G IFNA6 interferon alpha 6 treatment ISO RGD PMID:30456844 RGD:36174218 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,350,253...21,350,956 		JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:decreased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IGF1R insulin like growth factor 1 receptor severity IEP mRNA:increased expression:articular cartilage of joint: RGD PMID:8609369 RGD:10045889 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGF2 insulin like growth factor 2 IEP mRNA:increased expression:cartilage RGD PMID:22527881 RGD:10402552 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP RGD PMID:18775662 RGD:10402575 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IHH Indian hedgehog signaling molecule IEP
ISO		 protein:increased expression:cartilage RGD PMID:24786088 PMID:24786088 RGD:12910979, RGD:12910979 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G IL1A interleukin 1 alpha IEP protein:increased expression:chonodrocyte: RGD PMID:9497936 RGD:10047053 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21954917 PMID:37943572 PMID:22890185 RGD:7207218 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL4R interleukin 4 receptor IEP protein:increased expression:serum RGD PMID:16647277 RGD:10402785 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL5 interleukin 5 IEP RGD PMID:22035391 RGD:5687147 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838 		JBrowse link
G IMMT inner membrane mitochondrial protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:86,143,936...86,195,462
Ensembl chr 2:86,143,932...86,195,472 		JBrowse link
G INS insulin IEP protein:increased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G ISOC2 isochorismatase domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr19:55,452,985...55,461,642
Ensembl chr19:55,452,985...55,462,343 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IEP RGD PMID:18354251 RGD:6482239 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G LEP leptin severity IEP protein:increased expression:tibia, cartilage, chondrocyte (human) RGD PMID:14613274 RGD:10053634 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LGALS3 galectin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34894372 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Osteoarthritis susceptibility 5 ClinVar PMID:17384641 PMID:25741868 PMID:28492532 NCBI chr20:35,437,929...35,438,683 JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 IEP mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,606...65,508,073 		JBrowse link
G MATN3 matrilin 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Osteoarthritis susceptibility 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668 		JBrowse link
G MIR146A microRNA 146a IEP mRNA:decreased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450 		JBrowse link
G MIR34A microRNA 34a treatment IEP
ISO		 mRNA:increased expression:knee, hip (human) RGD PMID:30048987 PMID:30048987 RGD:152177909, RGD:152177909 NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777 		JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP13 matrix metallopeptidase 13 treatment IDA
IMP
ISO		 mRNA, protein:increased expression:cartilage RGD PMID:16128596 PMID:11134178 PMID:17530714 PMID:23982761 PMID:22890185 RGD:7207089, RGD:10043117, RGD:2300093, RGD:10043101, RGD:7207218 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:synovial fluid (human) RGD PMID:15194590 RGD:7207131 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 IDA
IEP		 protein:increased expression:synovial fluid (human) RGD PMID:16128596 PMID:15194590 RGD:7207089, RGD:7207131 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP8 matrix metallopeptidase 8 IEP protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MSN moesin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:65,588,377...65,741,931
Ensembl chr  X:65,588,377...65,741,931 		JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:24651621 PMID:22084394 RGD:10003163, RGD:10003165 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MVP major vault protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr16:29,820,394...29,848,039
Ensembl chr16:29,820,394...29,848,039 		JBrowse link
G MYH13 myosin heavy chain 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:10,300,865...10,373,006
Ensembl chr17:10,300,865...10,373,130 		JBrowse link
G MYL3 myosin light chain 3 ISS MouseDO NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G NAPEPLD N-acyl phosphatidylethanolamine phospholipase D ISO protein:increased expression:spinal cord RGD PMID:20722027 RGD:10412653 NCBI chr 7:103,099,776...103,150,001
Ensembl chr 7:103,099,776...103,149,560 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 susceptibility IAGP RGD PMID:15334463 RGD:1625347 NCBI chr12:124,324,415...124,567,612
Ensembl chr12:124,324,415...124,567,612 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 treatment ISO RGD PMID:34738623 RGD:329328930 NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325 		JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:33806315 PMID:25677108 RGD:402463969, RGD:402463970 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NME2 NME/NM23 nucleoside diphosphate kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:51,165,536...51,171,744
Ensembl chr17:51,165,435...51,171,744 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:6,828,407...6,839,847
Ensembl chr12:6,828,407...6,839,847 		JBrowse link
G PDCD6IP programmed cell death 6 interacting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:33,798,630...33,869,703
Ensembl chr 3:33,798,571...33,869,707 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO mRNA:increased expression:tibia (rat) RGD PMID:21864409 RGD:6771362 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IEP mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLCD1 phospholipase C delta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLS3 plastin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,561,174...115,650,861 		JBrowse link
G POMC proopiomelanocortin IMP RGD PMID:21378032 RGD:5508809 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G POU3F3 POU class 3 homeobox 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PSMB1 proteasome 20S subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:170,535,120...170,553,307
Ensembl chr 6:170,535,120...170,553,307 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 susceptibility IAGP
EXP		 DNA:SNP (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:32004530 PMID:15334463 RGD:1625347 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RAN RAN, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:130,872,066...130,877,678
Ensembl chr12:130,872,037...130,877,678 		JBrowse link
G RCN3 reticulocalbin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr19:49,528,003...49,543,633
Ensembl chr19:49,528,003...49,546,962 		JBrowse link
G RUNX2 RUNX family transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G S100A4 S100 calcium binding protein A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16948116 NCBI chr 1:153,543,621...153,545,806
Ensembl chr 1:153,543,613...153,550,136 		JBrowse link
G SCRN1 secernin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:29,920,103...29,990,289
Ensembl chr 7:29,920,104...29,990,289 		JBrowse link
G SDCBP syndecan binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:58,553,261...58,582,858
Ensembl chr 8:58,552,924...58,582,859 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SERPINA1 serpin family A member 1 IEP RGD PMID:20434574 RGD:2324964 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SGCG sarcoglycan gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18973239 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SMAD3 SMAD family member 3 EXP
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:21217753 PMID:22772368 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:18784066 PMID:22108257 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A susceptibility IAGP DNA:repeats: : RGD PMID:25231575 RGD:14390133 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TFPI2 tissue factor pathway inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 7:93,885,396...93,890,753
Ensembl chr 7:93,885,396...93,890,753 		JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGM2 transglutaminase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578 		JBrowse link
G TLR8 toll like receptor 8 IAGP ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TLR8-AS1 TLR8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:12,902,817...12,943,300
Ensembl chr  X:12,902,817...12,908,333 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a ISO RGD PMID:14872496 RGD:2290500 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102 		JBrowse link
G TNFRSF10B TNF receptor superfamily member 10b ISO RGD PMID:14872496 RGD:2290500 NCBI chr 8:23,020,133...23,069,031
Ensembl chr 8:23,020,133...23,069,031 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b disease_progression IAGP RGD PMID:15334463 RGD:1625347 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFSF10 TNF superfamily member 10 ISO RGD PMID:14872496 RGD:2290500 NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475 		JBrowse link
G TNFSF15 TNF superfamily member 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039 		JBrowse link
G TRAP1 TNF receptor associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr16:3,658,037...3,717,524
Ensembl chr16:3,651,639...3,717,553 		JBrowse link
G TRIM2 tripartite motif containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21964574 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TXNRD1 thioredoxin reductase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:104,215,779...104,350,307
Ensembl chr12:104,215,779...104,350,307 		JBrowse link
G VDAC2 voltage dependent anion channel 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:75,210,170...75,231,448
Ensembl chr10:75,210,154...75,231,448 		JBrowse link
G VIM vimentin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16876394 PMID:18784066 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G WDR35-DT WDR35 divergent transcript IAGP ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 ClinVar PMID:12736871 PMID:14729835 PMID:25741868 PMID:28492532 NCBI chr 2:19,990,204...20,004,806
Ensembl chr 2:19,990,165...20,004,823 		JBrowse link
G YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:9,583,967...9,630,997
Ensembl chr 2:9,583,967...9,630,997 		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 IAGP
EXP		 ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		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 chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G BMP4 bone morphogenetic protein 4 IDA RGD PMID:19404941 RGD:9068434 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CASP6 caspase 6 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chr 4:109,664,388...109,709,767
Ensembl chr 4:109,688,622...109,703,583 		JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907 		JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:29621761 RGD:13782275 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:25128628 RGD:11041187 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 treatment ISO RGD PMID:25975052 RGD:150429975 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IDA RGD PMID:23041435 RGD:10402106 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A treatment ISO RGD PMID:16394269 RGD:10402538 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 ISO mRNA:decreased expression:knee RGD PMID:24754147 RGD:10412054 NCBI chr 4:3,503,612...3,532,422
Ensembl chr 4:3,503,612...3,532,446 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha treatment ISO RGD PMID:23589102 RGD:11561955 NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:29364174 RGD:13800565 NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506 		JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO protein:decreased expression:skeletal joint RGD PMID:31742919 RGD:40924673 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436 		JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:28122611 RGD:27226703 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G ULK1 unc-51 like autophagy activating kinase 1 treatment ISO RGD PMID:23589102 RGD:11561955 NCBI chr12:131,894,622...131,923,150
Ensembl chr12:131,894,622...131,923,150 		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 chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088 		JBrowse link
G ASPN asporin IEP
IAGP		 mRNA:increased expression:cartilage:
DNA:repeats:exon:		 RGD PMID:15640800 PMID:15640800 RGD:9684965, RGD:9684965 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G ASTN2 astrotactin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 9:116,423,112...117,415,057
Ensembl chr 9:116,423,112...117,415,070 		JBrowse link
G CHADL chondroadherin like EXP CTD Direct Evidence: marker/mechanism CTD PMID:28319091 PMID:30374069 NCBI chr22:41,229,513...41,240,931
Ensembl chr22:41,229,510...41,240,931 		JBrowse link
G COL10A1 collagen type X alpha 1 chain ISO mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL1A1 collagen type I alpha 1 chain no_association
susceptibility		 IEP
IAGP		 DNA:SNP:intron:g.2046G>T (human) RGD PMID:17187661 PMID:9811048 PMID:15880349 RGD:5688305, RGD:5688330, RGD:5688306 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COMP cartilage oligomeric matrix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:28319091 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062 		JBrowse link
G ESR1 estrogen receptor 1 IAGP DNA:SNP:intron:g.-397T>C (human) RGD PMID:17419075 RGD:10045661 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FILIP1 filamin A interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FRZB frizzled related protein IAGP ClinVar Annotator: match by term: OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO ClinVar PMID:15210948 NCBI chr 2:182,833,275...182,866,637
Ensembl chr 2:182,833,275...182,866,637 		JBrowse link
G GHR growth hormone receptor IAGP associated with Acromegaly;DNA:deletion:exon: RGD PMID:19864451 RGD:10003142 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G HDAC9 histone deacetylase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 7:18,086,825...19,002,416
Ensembl chr 7:18,086,949...19,002,416 		JBrowse link
G HFE homeostatic iron regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G IL11 interleukin 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 PMID:30664745 NCBI chr19:55,364,382...55,370,463
Ensembl chr19:55,364,382...55,370,463 		JBrowse link
G IL4R interleukin 4 receptor susceptibility
no_association		 IAGP DNA:SNPs:multiple
DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human)		 RGD PMID:14745651 PMID:19036616 RGD:10402782, RGD:10402784 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:52,777,599...52,792,068
Ensembl chr 3:52,777,595...52,792,068 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAPT microtubule associated protein tau EXP CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G RUNX2 RUNX family transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SMAD3 SMAD family member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G TNC tenascin C EXP CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
PAPA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID3B AT-rich interaction domain 3B IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,541,220...74,598,131
Ensembl chr15:74,541,206...74,598,131 		JBrowse link
G C15orf39 chromosome 15 open reading frame 39 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,198,889...75,212,169
Ensembl chr15:75,195,643...75,212,169 		JBrowse link
G CCDC33 coiled-coil domain containing 33 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,202,999...74,336,472
Ensembl chr15:74,202,705...74,336,472 		JBrowse link
G CIMAP1C ciliary microtubule associated protein 1C IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,724,041...75,727,688
Ensembl chr15:75,724,041...75,727,688 		JBrowse link
G CLK3 CDC like kinase 3 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,608,372...74,630,201
Ensembl chr15:74,598,500...74,645,414 		JBrowse link
G COMMD4 COMM domain containing 4 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,336,063...75,343,227
Ensembl chr15:75,336,020...75,343,224 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083 		JBrowse link
G CPLX3 complexin 3 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,826,627...74,831,802
Ensembl chr15:74,826,627...74,831,802 		JBrowse link
G CSK C-terminal Src kinase IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607 		JBrowse link
G EDC3 enhancer of mRNA decapping 3 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,630,558...74,696,024
Ensembl chr15:74,630,558...74,696,292 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G FAM219B family with sequence similarity 219 member B IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,897,963...74,906,851
Ensembl chr15:74,899,992...74,906,883 		JBrowse link
G FBXO22 F-box protein 22 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,903,878...75,942,511
Ensembl chr15:75,903,876...75,942,511 		JBrowse link
G GOLGA6A golgin A6 family member A IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,069,857...74,082,550
Ensembl chr15:74,069,857...74,082,550 		JBrowse link
G GOLGA6C golgin A6 family member C IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,258,334...75,273,455
Ensembl chr15:75,258,334...75,273,455 		JBrowse link
G GOLGA6D golgin A6 family member D IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,276,127...75,295,530
Ensembl chr15:75,282,835...75,295,530 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,639,093...75,640,224
Ensembl chr15:75,639,085...75,648,706 		JBrowse link
G ISL2 ISL LIM homeobox 2 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:76,336,773...76,342,475
Ensembl chr15:76,336,773...76,342,475 		JBrowse link
G ISLR immunoglobulin superfamily containing leucine rich repeat IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,173,710...74,176,871
Ensembl chr15:74,173,710...74,176,872 		JBrowse link
G ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,100,318...74,141,826
Ensembl chr15:74,100,311...74,138,540 		JBrowse link
G LMAN1L lectin, mannose binding 1 like IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,812,835...74,825,754
Ensembl chr15:74,812,716...74,825,757 		JBrowse link
G LOC130057651 ATAC-STARR-seq lymphoblastoid silent region 6694 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar NCBI chr15:76,995,121...76,995,310 JBrowse link
G LOC130057652 ATAC-STARR-seq lymphoblastoid active region 9887 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:77,019,861...77,019,990 JBrowse link
G LOC130057653 ATAC-STARR-seq lymphoblastoid active region 9888 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:77,022,117...77,022,166 JBrowse link
G LOXL1 lysyl oxidase like 1 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:73,926,462...73,952,136
Ensembl chr15:73,925,989...73,952,137 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612 		JBrowse link
G MPI mannose phosphate isomerase IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115 		JBrowse link
G NRG4 neuregulin 4 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,935,393...76,060,240
Ensembl chr15:75,935,969...76,059,795 		JBrowse link
G PML PML nuclear body scaffold IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G PPCDC phosphopantothenoylcysteine decarboxylase IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,023,590...75,050,726
Ensembl chr15:75,023,586...75,117,462 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Familial recurrent arthritis
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9262226 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 More... NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,463,251...75,579,315
Ensembl chr15:75,463,251...75,579,315 		JBrowse link
G RCN2 reticulocalbin 2 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:76,931,749...76,954,393
Ensembl chr15:76,931,738...76,954,393 		JBrowse link
G RPP25 ribonuclease P and MRP subunit p25 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,954,418...74,956,772
Ensembl chr15:74,954,418...74,956,772 		JBrowse link
G SCAMP2 secretory carrier membrane protein 2 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,843,730...74,873,365
Ensembl chr15:74,843,730...74,873,365 		JBrowse link
G SCAMP5 secretory carrier membrane protein 5 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,995,563...75,021,495
Ensembl chr15:74,957,219...75,021,495 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,409,289...74,433,958
Ensembl chr15:74,409,289...74,433,958 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SNUPN snurportin 1 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,598,086...75,626,461
Ensembl chr15:75,598,083...75,626,469 		JBrowse link
G SNX33 sorting nexin 33 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,647,912...75,662,301
Ensembl chr15:75,647,912...75,662,301 		JBrowse link
G STOML1 stomatin like 1 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:73,978,926...73,994,622
Ensembl chr15:73,978,926...73,994,622 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TMEM266 transmembrane protein 266 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:76,059,985...76,204,963
Ensembl chr15:76,059,958...76,229,121 		JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:75,843,447...75,901,078
Ensembl chr15:75,843,307...75,901,078 		JBrowse link
G UBL7 ubiquitin like 7 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,445,977...74,461,188
Ensembl chr15:74,445,977...74,461,182 		JBrowse link
G ULK3 unc-51 like kinase 3 IAGP ClinVar Annotator: match by term: Familial recurrent arthritis ClinVar PMID:28492532 NCBI chr15:74,836,118...74,843,156
Ensembl chr15:74,836,118...74,843,346 		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 IAGP 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 chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		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 IAGP
EXP		 ClinVar Annotator: match by term: Isolated congenital digital clubbing
ClinVar Annotator: match by term: Cranioosteoarthropathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:18805827 PMID:19306095 More... NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G LOC123038185 Sharpr-MPRA regulatory region 14374 IAGP ClinVar Annotator: match by term: PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:133,945,085...133,945,379 JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pachydermoperiostosis syndrome
ClinVar Annotator: match by term: PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE		 CTD
ClinVar		 PMID:20083684 PMID:22197487 PMID:22331663 PMID:23509104 PMID:25741868 More... NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		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 IAGP ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant ClinVar
OMIM		 PMID:16283874 PMID:22197487 PMID:22553128 PMID:22906430 PMID:23509104 More... NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		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 IAGP ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM
ClinVar		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:19306095 PMID:19568269 More... NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G LOC123038185 Sharpr-MPRA regulatory region 14374 IAGP ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:133,945,085...133,945,379 JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		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 LOC123038185 Sharpr-MPRA regulatory region 14374 IAGP ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE		 ClinVar PMID:25741868 PMID:26539716 PMID:28425581 PMID:28492532 NCBI chr 3:133,945,085...133,945,379 JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE		 ClinVar
OMIM		 PMID:16283874 PMID:22197487 PMID:22331663 PMID:22553128 PMID:22696055 More... NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia
OMIM:208230
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10471507 PMID:15300964 PMID:15300987 PMID:15631777 More... NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		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 IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:28492532 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G GNG3 G protein subunit gamma 3 IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,706,446...62,709,201
Ensembl chr11:62,707,676...62,709,201 		JBrowse link
G HNF1A HNF1 homeobox A IAGP 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 chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384 		JBrowse link
G NOG noggin IAGP
EXP		 CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.499C>T(p.R167C)human
DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human)		 CTD
RGD		 PMID:10080184 PMID:24326127 PMID:11846737 RGD:1600234, RGD:12801479, RGD:12801455 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
proximal symphalangism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOG noggin IAGP ClinVar Annotator: match by term: Proximal symphalangism 1A ClinVar
OMIM		 PMID:7557985 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		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 IAGP ClinVar Annotator: match by term: Symphalangism, proximal, 1B ClinVar
OMIM		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:16532400 PMID:16892395 More... NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDF5-AS1 GDF5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Symphalangism, proximal, 1B ClinVar PMID:12121354 PMID:16014698 PMID:16127465 PMID:16532400 PMID:16892395 More... NCBI chr20:35,433,029...35,434,651
Ensembl chr20:35,433,029...35,435,450 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 IEP protein:increased expression:serum RGD PMID:16936328 RGD:5683894 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility IAGP associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) RGD PMID:20153665 RGD:8661745 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility IAGP DNA:polymorphisms: :4887C>A, 4889A>G (human) RGD PMID:15124938 RGD:5147746 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G FBXL19 F-box and leucine rich repeat protein 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr16:30,922,851...30,948,783
Ensembl chr16:30,923,055...30,948,783 		JBrowse link
G HLA-C major histocompatibility complex, class I, C EXP CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130 		JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL13 interleukin 13 susceptibility IAGP DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human
DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)		 RGD PMID:21349879 PMID:19554022 RGD:8549517, RGD:8549552 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17A interleukin 17A severity
treatment		 ISO
IMP		 RGD PMID:24567524 PMID:23361084 RGD:8698658, RGD:9068444 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G LOC100287329 uncharacterized LOC100287329 IAGP ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to ClinVar PMID:12426569 PMID:12746914 PMID:14681301 NCBI chr 6:31,559,571...31,572,703 JBrowse link
G LTA lymphotoxin alpha treatment
susceptibility		 IEP
IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to		 OMIM
CTD
ClinVar
RGD		 PMID:12426569 PMID:12746914 PMID:14681301 PMID:22480318 RGD:8548821 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17408446 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP3 matrix metallopeptidase 3 IEP RGD PMID:11796404 RGD:7241254 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to ClinVar PMID:11385576 PMID:25741868 PMID:28492532 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IDA RGD PMID:22751595 RGD:6771221 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA: snp: cds: rs2476601
DNA:missense mutation: :R620W (rs2476601) (human)		 RGD PMID:21410964 PMID:15934099 RGD:6484592, RGD:6484550 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RUNX2 RUNX family transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association IAGP DNA:SNP: :rs744166 (human)
DNA:SNP: :rs2293152 (human)		 RGD PMID:23127549 PMID:23127549 RGD:8694309, RGD:8694309 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP DNA:SNP: :rs10181656 (human) RGD PMID:22328738 RGD:8661724 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP
EXP		 DNA:SNP: :-238G>A(rs361525)(human)
ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 More... RGD:7394813 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
reactive arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:polymorphism: :4887C>A (human) RGD PMID:14687717 RGD:1581251 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) RGD PMID:10648455 RGD:7364930 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G SOD2 superoxide dismutase 2 IDA RGD PMID:14687717 RGD:1581251 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP RGD PMID:7748224 RGD:6482278 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP RGD PMID:7748224 RGD:6482278 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		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 chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FST follistatin ISS OMIM:275210 MouseDO NCBI chr 5:53,480,629...53,487,134
Ensembl chr 5:53,480,626...53,487,134 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy		 ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129930252 ATAC-STARR-seq lymphoblastoid active region 835 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar NCBI chr 1:40,257,827...40,258,096 JBrowse link
G LOC129930253 ATAC-STARR-seq lymphoblastoid active region 836 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:3840649 PMID:16297189 PMID:20034068 PMID:20101687 PMID:20635340 More... NCBI chr 1:40,258,177...40,258,456 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP
EXP		 DNA:duplication:exon:c.591dupT (human)
ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... RGD:10043097 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		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 IAGP ClinVar Annotator: match by term: ZMPSTE24-related disorder
ClinVar Annotator: match by term: Restrictive dermopathy 1		 OMIM
ClinVar		 PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:16297189 More... NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		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 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL
ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2		 ClinVar
OMIM		 PMID:2733290 PMID:9500556 PMID:10587585 PMID:10655060 PMID:10739751 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL
ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2		 ClinVar PMID:18585512 PMID:19638735 PMID:24033266 PMID:25741868 PMID:26084686 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More... NCBI chr 1:156,114,934...156,115,023 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 IAGP RGD PMID:2737695 RGD:5509933 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism: :HLA-DQA1*03 (human)		 RGD PMID:17559688 PMID:15789899 RGD:5147792, RGD:127285392 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		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 chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G CD209 CD209 molecule IEP protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IEP mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		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 chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G FCN3 ficolin 3 IAGP ClinVar Annotator: match by term: Rheumatic heart disease ClinVar NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26823728 RGD:13792679 NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)		 RGD PMID:17559688 PMID:29029143 RGD:5147792, RGD:126925989 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)		 RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IGF1 insulin like growth factor 1 IEP RGD PMID:16406300 RGD:1582623 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL10 interleukin 10 no_association IAGP RGD PMID:16043936 RGD:1598626 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G INHBA inhibin subunit beta A ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956 		JBrowse link
G MIR155 microRNA 155 ISO RGD PMID:31894293 RGD:151347417 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16406300 RGD:1582623 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 treatment ISO RGD PMID:31894293 RGD:151347417 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		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 chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		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 chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		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 chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin IEP protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G SELE selectin E severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 severity IEP protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20080907 PMID:22104130 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253 		JBrowse link
G ABCC4 ATP binding cassette subfamily C member 4 (PEL blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr13:95,019,835...95,301,451
Ensembl chr13:95,019,835...95,301,475 		JBrowse link
G ABCC5 ATP binding cassette subfamily C member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 3:183,919,934...184,017,884
Ensembl chr 3:183,919,934...184,017,939 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628 		JBrowse link
G ACAN aggrecan disease_progression IEP
EXP		 protein:increased degradation:cartilage
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15292528 PMID:16507130 RGD:11570537 NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		JBrowse link
G ACKR3 atypical chemokine receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 2:236,537,122...236,582,354
Ensembl chr 2:236,567,787...236,582,354 		JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 IEP mRNA:increased expression:synovium RGD PMID:11801682 RGD:10043106 NCBI chr 1:161,184,302...161,199,054
Ensembl chr 1:161,184,302...161,199,054 		JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 IEP protein:alternative form:synovium RGD PMID:11801682 RGD:10043106 NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12833524 PMID:21789720 RGD:5686424 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADORA2A adenosine A2a receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357 		JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:12739037 RGD:5684893 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AFF3 ALF transcription elongation factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP
EXP		 protein:decreased expression:plasma (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16385501 PMID:20541603 RGD:7244141 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18617548 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G ANG angiogenin IEP RGD PMID:12653852 RGD:6892721 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G ANXA3 annexin A3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 4:78,551,770...78,610,447
Ensembl chr 4:78,551,747...78,610,451 		JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Rheumatoid arthritis		 ClinVar PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,812,379...113,901,237 		JBrowse link
G APOA4 apolipoprotein A4 IEP protein:increased expression:blood serum (human) RGD PMID:20367977 RGD:5685646 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G ARID5B AT-rich interaction domain 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 PMID:23143596 NCBI chr10:61,901,699...62,096,944
Ensembl chr10:61,901,684...62,096,944 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19193698 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773 		JBrowse link
G AZGP1 alpha-2-glycoprotein 1, zinc-binding ISO mRNA:decreased expression:liver RGD PMID:18372237 RGD:153352318 NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042 		JBrowse link
G B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 2:62,196,115...62,224,731
Ensembl chr 2:62,196,115...62,224,731 		JBrowse link
G B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr16:67,148,104...67,150,998
Ensembl chr16:67,148,104...67,150,998 		JBrowse link
G BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 7:98,291,650...98,401,090
Ensembl chr 7:98,291,650...98,401,090 		JBrowse link
G BCL2A1 BCL2 related protein A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr15:79,960,892...79,971,196
Ensembl chr15:79,960,892...79,971,196 		JBrowse link
G BDKRB2 bradykinin receptor B2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IDA
IEP		 protein:increased expression:serum RGD PMID:22447331 PMID:3488088 RGD:6483593, RGD:6483600 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BGN biglycan EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G BMP4 bone morphogenetic protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BMP6 bone morphogenetic protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BTNL2 butyrophilin like 2 susceptibility IAGP DNA:SNPs: : RGD PMID:23364395 RGD:9685033 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C3 complement C3 IEP RGD PMID:7561187 RGD:11040775 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP RGD PMID:22076784 RGD:5688263 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CA1 carbonic anhydrase 1 IDA RGD PMID:12806141 RGD:408425977 NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014 		JBrowse link
G CA2 carbonic anhydrase 2 IDA RGD PMID:12806141 RGD:408425977 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CALD1 caldesmon 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 7:134,745,467...134,970,729
Ensembl chr 7:134,744,252...134,970,729 		JBrowse link
G CASP7 caspase 7 IEP RGD PMID:18785314 RGD:5684540 NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907 		JBrowse link
G CAST calpastatin IDA RGD PMID:7706496 RGD:5683620 NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595
Ensembl chr 5:96,247,756...96,779,595 		JBrowse link
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CAV2 caveolin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP protein:increased expression:serum RGD PMID:20056091 RGD:4891442 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL21 C-C motif chemokine ligand 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 IEP protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189 		JBrowse link
G CCL8 C-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402 		JBrowse link
G CCN1 cellular communication network factor 1 EXP
IEP		 CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)		 CTD
RGD		 PMID:19192274 PMID:34031328 RGD:329845561 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G CCN2 cellular communication network factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IMP RGD PMID:12860725 RGD:5688170 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 IEP protein:increased expression:synovial membrane:
mRNA:increased expression:synovium:		 RGD PMID:19942450 PMID:25430645 RGD:10054497, RGD:10054499 NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,957,120 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 resistance
no_association		 IAGP DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:16541097 PMID:17565662 RGD:1626290, RGD:1626283 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453841 PMID:20453842 PMID:23143596 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CD2 CD2 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 1:116,754,430...116,769,229
Ensembl chr 1:116,754,430...116,769,229 		JBrowse link
G CD244 CD244 molecule susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:18794858 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887 		JBrowse link
G CD28 CD28 molecule IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19898481 PMID:20453842 PMID:23143596 PMID:19075187 RGD:5131619 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD40 CD40 molecule IAGP
EXP		 DNA:SNP: :rs4810485 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18794853 PMID:20453842 PMID:23143596 PMID:20498205 RGD:5490972 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD5 CD5 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr11:61,093,963...61,127,852
Ensembl chr11:61,102,489...61,127,852 		JBrowse link
G CD80 CD80 molecule IEP protein:increased expression:serum RGD PMID:22917707 RGD:6893647 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614 		JBrowse link
G CD83 CD83 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 6:14,117,256...14,136,918
Ensembl chr 6:14,117,256...14,140,682 		JBrowse link
G CDK6 cyclin dependent kinase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18794853 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta IEP protein:increased expression:knee, articular cartilage (human) RGD PMID:19248099 RGD:10401213 NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,734...50,192,690 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity IEP protein:increased secretion:serum (human) RGD PMID:10461474 RGD:4892605 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO mRNA,protein:increased expression:joint, spleen: RGD PMID:31279484 RGD:151676715 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:23261301 PMID:25741868 PMID:28492532 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CIITA class II major histocompatibility complex transactivator susceptibility
no_association		 IAGP
EXP		 DNA:haplotype:promoter/CDS:rs3087456G/rs4774C
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-168A>G
DNA:polymorphism:promoter:rs3087456, no association in a German cohort		 OMIM
ClinVar
CTD
RGD		 PMID:15821736 PMID:16849401 PMID:25741868 PMID:28492532 PMID:19221398 More... RGD:5491176, RGD:1358146, RGD:5491189 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CLEC12A C-type lectin domain family 12 member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr12:9,951,268...10,006,150
Ensembl chr12:9,951,316...9,995,694 		JBrowse link
G CLEC16A C-type lectin domain containing 16A IAGP DNA:polymorphism:intron:rs6498169G RGD PMID:19221398 RGD:5491176 NCBI chr16:10,944,564...11,182,186
Ensembl chr16:10,944,539...11,182,186 		JBrowse link
G COL2A1 collagen type II alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:27028940 PMID:29935983 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CRP C-reactive protein IEP
EXP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:1568518 PMID:22173958 PMID:22173958 RGD:6904209, RGD:6904209 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CSF2 colony stimulating factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTSD cathepsin D EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:11465708 RGD:4892002 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 PMID:19192274 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 IEP protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G CYBB cytochrome b-245 beta chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:24313545 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G DDIT4 DNA damage inducible transcript 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr10:72,273,924...72,276,036
Ensembl chr10:72,273,919...72,276,036 		JBrowse link
G DDX6 DEAD-box helicase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DHFR dihydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal ISS OMIM:180300 MouseDO NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G DNMT1 DNA methyltransferase 1 severity IEP mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression IAGP DNA:polymorphism:promoter:-283C>T(human) RGD PMID:19777235 RGD:9589110 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G EDN1 endothelin 1 treatment IDA RGD PMID:22249931 RGD:8661695 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G ELN elastin IDA RGD PMID:12643515 RGD:9585739 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENO1 enolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19898480 NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IEP protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IEP mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G ESR2 estrogen receptor 2 severity IAGP DNA:SNP:exon:rs1256049(human) RGD PMID:21523342 RGD:5508794 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G F2 coagulation factor II, thrombin EXP CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP
IMP
IEP		 DNA:snp:promoter:g.-670A>G (human)
protein:increased expression:serum (human)		 RGD PMID:23053964 PMID:20875116 PMID:12148596 RGD:8662433, RGD:12903969, RGD:8662455 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCGR1A Fc gamma receptor Ia IEP protein:increased expression:synovial joint: RGD PMID:16670289 RGD:9685708 NCBI chr 1:149,782,694...149,800,609
Ensembl chr 1:149,782,671...149,791,675 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP
EXP
IDA		 DNA:polymorphism: :p.H131R (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20453842 PMID:23143596 PMID:12508778 PMID:8254199 RGD:5147978, RGD:5147984 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IAGP
IEP		 DNA:polymorphism:exon:p.F158V(rs396991)(human)
DNA:CNVs
protein:decreased expression:NK cell		 RGD PMID:19019892 PMID:25154742 PMID:15334114 RGD:5508391, RGD:11344974, RGD:5508467 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G FKBP5 FKBP prolyl isomerase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 6:35,573,590...35,728,583
Ensembl chr 6:35,573,585...35,728,583 		JBrowse link
G FOXO3 forkhead box O3 IEP mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: RGD PMID:19435720 RGD:10402186 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G FOXP3 forkhead box P3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20476861 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FPGS folylpolyglutamate synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 9:127,802,858...127,814,506
Ensembl chr 9:127,794,597...127,814,494 		JBrowse link
G GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr21:33,503,931...33,542,893
Ensembl chr21:33,503,931...33,543,491 		JBrowse link
G GATA3 GATA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GC GC vitamin D binding protein IEP
EXP		 protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:3874814 PMID:9548303 RGD:5509931 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GDF5 growth differentiation factor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18830904 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GGH gamma-glutamyl hydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 8:63,015,079...63,038,806
Ensembl chr 8:63,014,881...63,039,407 		JBrowse link
G GIN1 gypsy retrotransposon integrase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 5:103,086,000...103,120,138
Ensembl chr 5:103,086,000...103,120,138 		JBrowse link
G GPRC5A G protein-coupled receptor class C group 5 member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr12:12,891,562...12,917,937
Ensembl chr12:12,890,782...12,917,937 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO
EXP
IEP		 DNA: deletion: : heterozygous
CTD Direct Evidence: marker/mechanism
protein: decreased expression: mononuclear leukocytes		 CTD
RGD		 PMID:10094932 PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G GRK5 G protein-coupled receptor kinase 5 no_association ISO
IEP		 DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis
protein: : mononuclear blood cells		 RGD PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO
EXP
IEP		 DNA: deletion: : homozygous
CTD Direct Evidence: marker/mechanism
protein: decreased expression: mononuclear leukocytes		 CTD
RGD		 PMID:10094932 PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr 5:177,425,523...177,442,891
Ensembl chr 5:177,403,204...177,442,901 		JBrowse link
G GSDME gasdermin E EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: :
DNA:deletion: : 		RGD PMID:16887863 PMID:15940757 PMID:16870093 RGD:5490993, RGD:5490998, RGD:5490994 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 severity
susceptibility		 IAGP DNA:deletion: : RGD PMID:19473562 PMID:20401725 PMID:20597111 RGD:5490553, RGD:5490983, RGD:5490982
G HAPLN1 hyaluronan and proteoglycan link protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 5:83,637,805...83,720,855
Ensembl chr 5:83,637,805...83,720,855 		JBrowse link
G HCLS1 hematopoietic cell-specific Lyn substrate 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 3:121,631,399...121,660,903
Ensembl chr 3:121,631,399...121,660,927 		JBrowse link
G HDAC1 histone deacetylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32289289 NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635 		JBrowse link
G HFE homeostatic iron regulator IAGP DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HGF hepatocyte growth factor disease_progression IEP protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17956852 PMID:22286218 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms (human)
DNA:polymorphism (human)		 RGD PMID:11482129 PMID:11454644 RGD:5147859, RGD:5147860 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 6:32,741,391...32,747,198
Ensembl chr 6:32,741,391...32,747,198 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism (human) RGD PMID:11454644 RGD:5147860 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP
EXP		 CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)
DNA:polymorphisms (human)
DNA:polymorphisms: :multiple (human)		 CTD
RGD		 PMID:19898480 PMID:20453842 PMID:22286218 PMID:18512783 PMID:11454644 More... RGD:4144826, RGD:5147860, RGD:5147616, RGD:5147567 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 severity ISO RGD PMID:18025202 RGD:9685481 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G HOXD10 homeobox D10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,937 		JBrowse link
G HOXD11 homeobox D11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:176,107,280...176,115,679
Ensembl chr 2:176,104,216...176,109,754 		JBrowse link
G HOXD13 homeobox D13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 IEP mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699 		JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 IEP protein:increased expression:peripheral blood lymphocyte (human) RGD PMID:22047640 RGD:5688784 NCBI chr 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 IEP protein:increased expression:synovial joint RGD PMID:11315915 RGD:5685639 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IEP protein:increased expression:synovial cell: RGD PMID:23739258 RGD:10402561 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IEP protein:increased expression:serum: RGD PMID:21417552 RGD:10402843 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G IFNG interferon gamma treatment IDA
IEP
EXP		 mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22450443 PMID:1417133 PMID:22660635 RGD:8157623, RGD:155663483 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP
IEP		 DNA:loss of imprinting:synovial cell
protein:decreased expression:plasma		 RGD PMID:19556211 PMID:11247331 RGD:5510001, RGD:5510014 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IKZF3 IKAROS family zinc finger 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr17:39,757,715...39,864,312
Ensembl chr17:39,757,715...39,864,312 		JBrowse link
G IL10 interleukin 10 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Rheumatoid arthritis, progression of
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12847677 PMID:22450443 PMID:25741868 PMID:28492532 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL13 interleukin 13 IEP protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17A interleukin 17A treatment IMP
IEP		 mRNA:increased expression:synovial (human) RGD PMID:20926833 PMID:22660635 RGD:9068415, RGD:155663483 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16368150 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis, progression of
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO		 ClinVar PMID:12847677 PMID:25741868 PMID:28492532 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981 		JBrowse link
G IL1A interleukin 1 alpha severity IDA
IEP		 associated with lung disease, interstitial
protein:increased expression:plasma, synovial fluid		 RGD PMID:11192540 PMID:8162643 RGD:4142818, RGD:7794716 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta IEP
EXP		 protein:decreased expression:serum
mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12566094 PMID:17379860 PMID:22450443 PMID:22414257 PMID:22660635 RGD:6482656, RGD:155663483 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IDA
EXP
ISO		 CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:7706905 PMID:19192274 PMID:19447938 PMID:10637275 RGD:7174696, RGD:8549810 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 IDA RGD PMID:6421522 RGD:8662948 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL20 interleukin 20 IEP RGD PMID:16947773 RGD:5147395 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,623...206,869,223 		JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:19342640 RGD:6892964 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042 		JBrowse link
G IL23A interleukin 23 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410 		JBrowse link
G IL23R interleukin 23 receptor susceptibility IAGP DNA:SNP::rs1343151(human) RGD PMID:18647855 RGD:8549596 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:20476861 PMID:23143596 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IL3 interleukin 3 IAGP DNA: SNPs: Multiple: gene-gene interaction RGD PMID:20018070 RGD:5686905 NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204 		JBrowse link
G IL4R interleukin 4 receptor severity IAGP DNA:SNP: :rs1805010 (human) RGD PMID:24782180 RGD:10402783 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL5 interleukin 5 IEP RGD PMID:22293286 RGD:5687156 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 PMID:22450443 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16729287 PMID:23143596 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer EXP
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:180300		 CTD
MouseDO		 PMID:20453842 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP
IDA
EXP		 ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:15657875 PMID:16642019 PMID:17599733 PMID:18063667 PMID:20453842 More... RGD:40924627, RGD:40924559 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G IRF8 interferon regulatory factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G ITGA6 integrin subunit alpha 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459 		JBrowse link
G ITPA inosine triphosphatase treatment IAGP DNA:SNP: :94C>A(human) RGD PMID:29441893 RGD:14975307 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:21510883 RGD:6483024 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KAT2B lysine acetyltransferase 2B IEP mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chr 3:20,040,446...20,154,404
Ensembl chr 3:20,040,446...20,154,404 		JBrowse link
G KIF5A kinesin family member 5A susceptibility IAGP
EXP		 DNA:snp:intron:c.1717-152C>G (rs1678542) (human)
CTD Direct Evidence: marker/mechanism
DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human)		 CTD
RGD		 PMID:23143596 PMID:23378462 PMID:21784728 RGD:12793072, RGD:12793073 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KMT2C lysine methyltransferase 2C treatment ISO RGD PMID:33914205 RGD:151356764 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G LCN2 lipocalin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7554268 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LHX2 LIM homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 9:124,011,768...124,033,301
Ensembl chr 9:124,001,670...124,033,301 		JBrowse link
G LOC128462409 CRISPRi-FlowFISH-validated IL10 regulatory element GRCh37_chr1:206945468-206946089 IAGP ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,772,123...206,772,744 JBrowse link
G LPA lipoprotein(a) IEP protein:increased expression:serum RGD PMID:21523363 RGD:5509910 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IEP RGD PMID:17082220 RGD:5508419 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G LY96 lymphocyte antigen 96 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 8:73,991,392...74,099,857
Ensembl chr 8:73,991,392...74,029,079 		JBrowse link
G MAB21L2 mab-21 like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 IEP mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,606...65,508,073 		JBrowse link
G MARCKS myristoylated alanine rich protein kinase C substrate EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 6:113,857,345...113,863,475
Ensembl chr 6:113,857,345...113,863,475 		JBrowse link
G MBD2 methyl-CpG binding domain protein 2 IEP mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chr18:54,151,606...54,224,669
Ensembl chr18:54,151,606...54,224,669 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility
no_association		 IAGP 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 chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MDK midkine ISO RGD PMID:15146411 RGD:1581200 NCBI chr11:46,380,784...46,383,837
Ensembl chr11:46,380,756...46,383,837 		JBrowse link
G MGARP mitochondria localized glutamic acid rich protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:139,266,165...139,280,225
Ensembl chr 4:139,266,165...139,280,225 		JBrowse link
G MIF macrophage migration inhibitory factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MIR146A microRNA 146a IEP mRNA:decreased expression:cartilage tissue (human)
mRNA:increased expression:synovial (human)		 RGD PMID:31472145 PMID:22660635 RGD:152177908, RGD:155663483 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450 		JBrowse link
G MIR23B microRNA 23b IEP mRNA, protein:decreased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304 		JBrowse link
G MIR3936HG MIR3936 host gene IAGP ClinVar Annotator: match by term: SLC22A4-related condition ClinVar PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:132,311,276...132,369,916
Ensembl chr 5:132,311,285...132,370,170 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP1 matrix metallopeptidase 1 IEP protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP10 matrix metallopeptidase 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628 		JBrowse link
G MMP12 matrix metallopeptidase 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISS OMIM:180300 MouseDO NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 disease_progression IEP protein:increased expression:serum (human) RGD PMID:7639798 PMID:22314025 PMID:11796404 RGD:7207128, RGD:8693673, RGD:7241254 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP8 matrix metallopeptidase 8 IEP protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16406300 RGD:1582623 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MPO myeloperoxidase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22450443 PMID:26001728 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:missense mutations:cds:multiple (human) RGD PMID:15987486 RGD:5490238 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP
EXP		 DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22104130 PMID:23685257 RGD:7387222 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 induced EXP
ISO		 CTD Direct Evidence: marker/mechanism
DNA:polymorphism:M153T (rat)		 CTD
RGD		 PMID:12833524 PMID:28135245 PMID:21275845 RGD:41404729 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:polymorphism, SNP:cds (rs789181) (human)		 CTD
RGD		 PMID:12833524 PMID:17897462 RGD:41404710 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP DNA:polymorphism, SNP:cds (rs729749) (human) RGD PMID:17897462 RGD:41404710 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr12:57,234,903...57,240,762
Ensembl chr12:57,234,903...57,240,715 		JBrowse link
G NFKBIE NFKB inhibitor epsilon EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 6:44,258,166...44,265,551
Ensembl chr 6:44,258,166...44,265,788 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 susceptibility IAGP
EXP		 DNA:snp:promoter:c.-132T>A (rs2071592) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis		 CTD
OMIM
ClinVar
RGD		 PMID:12509789 PMID:12509789 RGD:1331681 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NOTCH4 notch receptor 4 IEP mRNA : increased expression: : cd4+ cells RGD PMID:20132067 RGD:6480790 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		JBrowse link
G NPSR1 neuropeptide S receptor 1 IAGP RGD PMID:20179762 RGD:4891930 NCBI chr 7:34,658,218...34,878,332
Ensembl chr 7:34,658,218...34,878,332 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA:increased expression:paw RGD PMID:18448865 RGD:4892311 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891 		JBrowse link
G OPRM1 opioid receptor mu 1 susceptibility IAGP DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) RGD PMID:31309790 RGD:401827955 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867 		JBrowse link
G PADI2 peptidyl arginine deiminase 2 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr 1:17,066,761...17,119,451
Ensembl chr 1:17,066,761...17,119,451 		JBrowse link
G PADI4 peptidyl arginine deiminase 4 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis		 CTD
ClinVar		 PMID:23143596 NCBI chr 1:17,308,197...17,364,004
Ensembl chr 1:17,308,195...17,364,004 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP RGD PMID:1708827 RGD:6482653 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PGF placental growth factor IEP RGD PMID:19180491 RGD:6483591 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IEP mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLA2G7 phospholipase A2 group VII IEP RGD PMID:17326817 RGD:6482776 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor IDA RGD PMID:22011479 RGD:6484117 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547 		JBrowse link
G PLB1 phospholipase B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24520335 NCBI chr 2:28,496,060...28,644,142
Ensembl chr 2:28,457,145...28,644,142 		JBrowse link
G PLD4 phospholipase D family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761 		JBrowse link
G PLEK pleckstrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 2:68,365,282...68,397,453
Ensembl chr 2:68,365,282...68,397,453 		JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16055108 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G POU3F1 POU class 3 homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 1:38,043,829...38,046,793
Ensembl chr 1:38,043,829...38,046,793 		JBrowse link
G PRDM1 PR/SET domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686 NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939 		JBrowse link
G PRKCQ protein kinase C theta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301 		JBrowse link
G PSG5 pregnancy specific beta-1-glycoprotein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr19:43,167,743...43,186,536
Ensembl chr19:43,166,256...43,186,536 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15167967 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IMP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11978490 PMID:19192274 PMID:21905970 RGD:5508313 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTK2 protein tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 susceptibility
no_association		 IAGP
EXP		 DNA:snp:cds:p.R620W (rs2476601) (human)
ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:SNP::1858C>T (human)
DNA:snp:cds:p.R263Q (rs33996649) (human)		 ClinVar
OMIM
CTD
RGD		 PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 More... RGD:6484535, RGD:7829746, RGD:6484595 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,759,342 		JBrowse link
G PXK PX domain containing serine/threonine kinase like EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127 		JBrowse link
G RAB8A RAB8A, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr19:16,111,889...16,134,234
Ensembl chr19:16,111,889...16,134,234 		JBrowse link
G RAP2A RAP2A, member of RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr13:97,434,169...97,469,128
Ensembl chr13:97,434,169...97,469,128 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RCAN1 regulator of calcineurin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr21:34,516,442...34,615,113
Ensembl chr21:34,513,142...34,615,113 		JBrowse link
G REL REL proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19503088 PMID:20453842 PMID:23143596 NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612 		JBrowse link
G RGMB repulsive guidance molecule BMP co-receptor b EXP CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 5:98,768,632...98,796,494
Ensembl chr 5:98,768,650...98,798,643 		JBrowse link
G RUNX1 RUNX family transcription factor 1 no_association IAGP DNA:SNPs: :rs2242720, rs4816502 (human)
DNA:SNP: :rs2268277 (human)
DNA:SNP:intron:24658G>C (human)		 RGD PMID:20018071 PMID:18087673 PMID:18328148 PMID:16821265 RGD:6482836, RGD:6482840, RGD:6482839, RGD:6482837 NCBI chr21:35,372,507...35,580,764
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RUNX1 RUNX family transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RUNX2 RUNX family transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SEMA3C semaphorin 3C IEP protein:increased expression:knee, synovium (human) RGD PMID:15077297 RGD:1580084 NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 severity IAGP
EXP		 DNA:polymorphism:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, deletion: :823C>T, p.D543N (human)		 CTD
RGD		 PMID:16597321 PMID:12135431 PMID:10719815 RGD:5684967, RGD:5684971 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Rheumatoid arthritis
ClinVar Annotator: match by term: SLC22A4-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14608356 PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859 		JBrowse link
G SMS spermine synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G SNHG14 small nucleolar RNA host gene 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34529319 NCBI chr15:24,823,608...25,419,462
Ensembl chr15:24,978,583...25,420,336 		JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 PMID:15292528 PMID:24313545 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:15761492 RGD:1581382 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17379860 PMID:17568789 NCBI chr 1:76,867,480...77,067,546
Ensembl chr 1:76,867,480...77,067,546 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STS steroid sulfatase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		JBrowse link
G SUPT20H SPT20 homolog, SAGA complex component IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr13:37,009,312...37,059,688
Ensembl chr13:37,009,312...37,059,713 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IEP mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 IEP mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr  X:30,827,442...30,889,254
Ensembl chr  X:30,827,442...30,975,084 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 6:159,034,481...159,044,991
Ensembl chr 6:159,034,468...159,095,823 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP RGD PMID:9645419 RGD:6482275 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TFPI2 tissue factor pathway inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:17379860 NCBI chr 7:93,885,396...93,890,753
Ensembl chr 7:93,885,396...93,890,753 		JBrowse link
G THBD thrombomodulin IDA RGD PMID:15700117 RGD:5685020 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr15:70,047,790...70,097,917
Ensembl chr15:70,047,790...70,098,176 		JBrowse link
G TLR1 toll like receptor 1 IAGP ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:32594150 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,787,555...38,856,817 		JBrowse link
G TLR2 toll like receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TMPO thymopoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TNF tumor necrosis factor treatment
no_association		 IMP
ISS
IEP
EXP
IAGP		 OMIM:180300
mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:SNP:promoter:-238G>A, -308G>A (human)
DNA:SNP:promoter:-857C>T (human)		 MouseDO
CTD
RGD		 PMID:2001072 PMID:8391952 PMID:12566094 PMID:22450443 PMID:34459104 More... RGD:10450537, RGD:155663483, RGD:12904065, RGD:12904065 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFAIP2 TNF alpha induced protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr14:103,121,469...103,137,439
Ensembl chr14:103,121,476...103,137,439 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b EXP CTD Direct Evidence: therapeutic CTD PMID:23333834 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A treatment IAGP DNA:SNP:promoter:36G>A (human) RGD PMID:25311255 RGD:12904065 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFSF14 TNF superfamily member 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr19:6,661,253...6,670,588
Ensembl chr19:6,658,085...6,670,588 		JBrowse link
G TRAF1 TNF receptor associated factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:23143596 NCBI chr 9:120,902,393...120,929,171
Ensembl chr 9:120,902,393...120,929,173 		JBrowse link
G TRAF6 TNF receptor associated factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272 		JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 treatment ISO RGD PMID:27049384 RGD:127229930 NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,100...41,286,682 		JBrowse link
G TXNDC5 thioredoxin domain containing 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chr 6:7,881,517...7,910,788
Ensembl chr 6:7,881,517...7,910,788 		JBrowse link
G TXNIP thioredoxin interacting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 1:145,992,435...145,996,579
Ensembl chr 1:145,992,435...145,996,579 		JBrowse link
G TYK2 tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chr19:10,350,533...10,380,572
Ensembl chr19:10,350,528...10,380,608 		JBrowse link
G TYMS thymidylate synthetase treatment IAGP DNA:polymorphism: : RGD PMID:22763757 RGD:11075093 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP treatment ISO RGD PMID:27049384 RGD:127229930 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G VDR vitamin D receptor no_association IAGP DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)		 RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression IEP
EXP		 protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16368150 PMID:24387171 RGD:8548659 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G VIM vimentin IDA RGD PMID:21792832 RGD:6480508 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 ISS OMIM:180300 MouseDO NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327 		JBrowse link
G ZFP36 ZFP36 ring finger protein ISS OMIM:180300 MouseDO NCBI chr19:39,406,847...39,409,407
Ensembl chr19:39,406,847...39,409,407 		JBrowse link
Sacroiliac Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELN reelin IAGP ClinVar Annotator: match by term: Arthritis, sacroiliac ClinVar NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
Sacroiliitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:19533139 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		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 IAGP ClinVar Annotator: match by term: Nail-patella-like renal disease
ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 | ClinVar Annotator: match by term: Nail-patella-like renal disease		 OMIM
ClinVar		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		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 IEP associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr15:22,867,052...22,980,898
Ensembl chr15:22,867,052...22,981,063 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome		 ClinVar
OMIM		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
septic arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL4 C-C motif chemokine ligand 4 IEP RGD PMID:17393419 RGD:5683892 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:1730259 RGD:10058962 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799 		JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO RGD PMID:23204180 RGD:41410433 NCBI chr 2:37,344,630...37,373,322
Ensembl chr 2:37,342,827...37,373,322 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP 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
ClinVar Annotator: match by term: Short stature and advanced bone age | 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 and advanced bone age, with early-onset osteoarthritis		 OMIM
ClinVar		 PMID:14216462 PMID:16080123 PMID:19110214 PMID:20137779 PMID:24762113 More... NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353 		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 ISS OMIM:270150 MouseDO NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G APOE apolipoprotein E onset IAGP DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G BDNF brain derived neurotrophic factor severity IEP protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BST2 bone marrow stromal cell antigen 2 IEP mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: RGD PMID:30249485 RGD:14398821 NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630 		JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CA1 carbonic anhydrase 1 IDA RGD PMID:12806141 RGD:408425977 NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014 		JBrowse link
G CA2 carbonic anhydrase 2 IDA RGD PMID:15831920 PMID:12806141 RGD:408425973, RGD:408425977 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CAST calpastatin IDA associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595
Ensembl chr 5:96,247,756...96,779,595 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association IAGP DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:12412204 PMID:23773920 RGD:8551796, RGD:8551818 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISS OMIM:270150 MouseDO NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,551,081...40,565,472 		JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CRP C-reactive protein IEP associated with Arthritis, Rheumatoid;protein:increased expression:serum: RGD PMID:2353152 PMID:16013223 RGD:9491774, RGD:9491835 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP
IEP		 DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)
mRNA:increased expression:salivary gland:		 RGD PMID:16869018 PMID:12528117 RGD:7421506, RGD:7421519 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISS OMIM:270150 MouseDO NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DGKQ diacylglycerol kinase theta EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 4:958,887...973,569
Ensembl chr 4:958,887...986,895 		JBrowse link
G E2F1 E2F transcription factor 1 ISS OMIM:270150 MouseDO NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385 		JBrowse link
G FAS Fas cell surface death receptor IEP
ISS
ISO		 protein:increased expression:serum (human)
OMIM:270150
protein:decreased expression:lacrimal gland, lymphocyte (mouse)		 MouseDO
RGD		 PMID:9890678 PMID:9870874 PMID:11157873 RGD:8662410, RGD:8662451, RGD:8662436 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FCGR2A Fc gamma receptor IIa EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G GDNF glial cell derived neurotrophic factor IEP RGD PMID:9853108 RGD:6218983 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G GTF2I general transcription factor IIi EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;		 RGD PMID:11555411 PMID:21315052 RGD:5147809, RGD:7421543 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)		 RGD PMID:21315052 PMID:17489060 PMID:8468491 RGD:7421543, RGD:36174022, RGD:7483566 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DRB1*0301 (human) RGD PMID:11555411 RGD:5147809 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:24941846 RGD:10450595 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IDA RGD PMID:19264855 RGD:10054311 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment IEP
ISO		 protein:increased expression:salivary gland
protein:increased expression:plasma		 RGD PMID:11359451 PMID:21589878 PMID:15037117 RGD:8158122, RGD:8547705, RGD:8547696 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G ID3 inhibitor of DNA binding 3 ISS OMIM:270150 MouseDO NCBI chr 1:23,557,926...23,559,501
Ensembl chr 1:23,557,926...23,559,501 		JBrowse link
G IFNG interferon gamma ISO
IEP		 RGD PMID:15584966 PMID:28421993 RGD:8142390, RGD:14975117 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL10 interleukin 10 IAGP RGD PMID:12233881 RGD:1580479 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL13 interleukin 13 IEP protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17A interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP
IEP		 DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
protein:increased expression:conjunctiva (human)		 RGD PMID:9646842 PMID:11527941 RGD:8549786, RGD:8549807 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 ISS OMIM:270150 MouseDO NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL23R interleukin 23 receptor IEP protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISS OMIM:270150 MouseDO NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL4 interleukin 4 ISS OMIM:270150 MouseDO NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 severity IEP
IAGP		 protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)		 RGD PMID:11426023 PMID:11426023 RGD:7829718, RGD:7829718 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:78,867,551...78,979,411
Ensembl chr 6:78,867,551...78,946,440 		JBrowse link
G ITSN2 intersectin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 2:24,202,864...24,361,368
Ensembl chr 2:24,202,864...24,360,536 		JBrowse link
G LTA lymphotoxin alpha no_association
susceptibility		 ISO
IAGP
IEP		 DNA:SNPs: :multiple (human)
DNA:SNP, haplotype:intron: (rs909253) (human)
protein:increased expression:saliva, serum		 RGD PMID:20952683 PMID:22294627 PMID:22294627 PMID:20952683 RGD:8548776, RGD:8548787, RGD:8548787, RGD:8548776 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:270150 MouseDO NCBI chr17:45,263,119...45,317,020
Ensembl chr17:45,263,119...45,317,029 		JBrowse link
G MMP3 matrix metallopeptidase 3 IEP RGD PMID:19332626 RGD:8693671 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP
IDA		 protein:increased activity:saliva RGD PMID:15316122 PMID:9923658 RGD:8547814, RGD:8547858 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MUC16 mucin 16, cell surface associated IEP mRNA, protein:increased expression:conjunctival epithelial cell, tear RGD PMID:19122828 RGD:7364772 NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MUC19 mucin 19, oligomeric (gene/pseudogene) IEP
ISS		 mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150		 MouseDO
RGD		 PMID:18184611 RGD:7364736 NCBI chr12:40,393,394...40,570,757
Ensembl chr12:40,393,395...40,570,832 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IEP mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISS
ISO		 OMIM:270150 MouseDO
RGD		 PMID:20696914 RGD:126908016 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G PHIP pleckstrin homology domain interacting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287 		JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PRDM1 PR/SET domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA:snp:cds:c.1858C>T (human) RGD PMID:16163373 PMID:15933742 RGD:11534998, RGD:11534999 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTTG1 PTTG1 regulator of sister chromatid separation, securin EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 5:160,421,855...160,428,744
Ensembl chr 5:160,421,855...160,428,739 		JBrowse link
G REG1A regenerating family member 1 alpha IEP protein:increased expression:minor salivary gland, salivary ductal epithelium (human) RGD PMID:19016805 RGD:9850137 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409 		JBrowse link
G RORC RAR related orphan receptor C ISS OMIM:270150 MouseDO NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845 		JBrowse link
G SATB1 SATB homeobox 1 ISS OMIM:270150 MouseDO NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
G SELP selectin P IEP protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISS OMIM:270150 MouseDO NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility
no_association		 IAGP
EXP		 DNA:SNP:intron: (rs7582694) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs7574865) (human)		 CTD
RGD		 PMID:24097066 PMID:24097067 PMID:20535138 PMID:20360187 PMID:18273036 RGD:8661690, RGD:8661709, RGD:8661708 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO
ISS		 OMIM:270150 MouseDO
RGD		 PMID:9358754 PMID:7554451 RGD:7394829, RGD:7394845 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G THBS1 thrombospondin 1 ISS OMIM:270150 MouseDO NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466 		JBrowse link
G TNF tumor necrosis factor treatment IAGP
ISO		 DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762 PMID:24941846 RGD:7394766, RGD:10450595 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFSF13B TNF superfamily member 13b ISS OMIM:270150 MouseDO NCBI chr13:108,269,629...108,308,484
Ensembl chr13:108,251,240...108,308,484 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISS OMIM:270150 MouseDO NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
G VIM vimentin IDA RGD PMID:6352937 RGD:6480477 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765 		JBrowse link
Sjögren-Mikulicz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:10616008 RGD:5491001 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		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 IAGP ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age ClinVar
OMIM		 PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G DUSP1 dual specificity phosphatase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility IAGP DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G MIR337 microRNA 337 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr14:100,874,493...100,874,585
Ensembl chr14:100,874,493...100,874,585 		JBrowse link
G SKP2 S-phase kinase associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Spondylarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IMP RGD PMID:16575857 RGD:6482692 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism:cds:HLA-B*2714, B*2705 (human) RGD PMID:12889998 RGD:10755578 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 no_association IAGP RGD PMID:15603870 PMID:9496154 RGD:6483462, RGD:6483495 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G RUNX2 RUNX family transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		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 IAGP DNA:missense mutation:exon:p.G274S(human) RGD PMID:7866404 RGD:12108857 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:106300 MouseDO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G HLA-B major histocompatibility complex, class I, B no_association IAGP human gene in a rat model;DNA:polymorphism:cds:HLA-B27 (human)
DNA:polymorphism:cds:HLA-B2705 (human)		 RGD PMID:2257626 PMID:21927904 RGD:7387221, RGD:10755579 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IL27 interleukin 27 ISO RGD PMID:29494633 RGD:14995936 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum: RGD PMID:9489833 RGD:7829742 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G TNF tumor necrosis factor ISS OMIM:106300 MouseDO NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:29494633 RGD:14995936 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 PMID:29931299 PMID:32381727 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures		 OMIM
ClinVar		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations
ClinVar Annotator: match by term: KIF22-related condition
ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations		 ClinVar
OMIM		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		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 IAGP ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:30284759 NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041 		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 IAGP ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes ClinVar NCBI chr17:56,046,077...56,517,016
Ensembl chr17:55,882,301...56,517,016 		JBrowse link
G NOG noggin IAGP ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes ClinVar
OMIM		 PMID:9851982 PMID:10069712 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		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 IAGP
EXP		 ClinVar Annotator: match by term: Stiff skin syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar PMID:17253931 PMID:17663468 PMID:24033266 PMID:24311428 PMID:24941995 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar PMID:9399842 PMID:10486319 PMID:11175294 PMID:11524736 PMID:11748851 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar PMID:16835936 PMID:19839986 PMID:24033266 PMID:25741868 PMID:26272055 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar NCBI chr15:48,644,834...48,644,963 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP
EXP		 associated with Hemophilia;DNA:polymorphism:cds:HLA-B*2708(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12648975 PMID:12889998 RGD:10755578 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		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 chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790 		JBrowse link
G IL6 interleukin 6 EXP
IAGP		 CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL6R interleukin 6 receptor treatment IMP RGD PMID:18358927 RGD:10402823 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G MIF macrophage migration inhibitory factor susceptibility IAGP
EXP		 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		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 IAGP
EXP		 DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		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
IEP		 mRNA:increased expression:temporomandibular joint RGD PMID:24316289 PMID:18830934 RGD:10043104, RGD:10043108 NCBI chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088 		JBrowse link
G BECN1 beclin 1 ISO mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G COMT catechol-O-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 IAGP ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chr10:126,905,428...127,452,516
Ensembl chr10:126,905,409...127,452,517 		JBrowse link
G GRK5 G protein-coupled receptor kinase 5 IAGP DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345 		JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 ISO protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 2:39,249,266...39,437,285
Ensembl chr 2:39,249,266...39,437,301 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23386193 RGD:10041017 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G TNF tumor necrosis factor severity IEP associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Temporomandibular Joint Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc gamma receptor IIIa ISO RGD PMID:20589683 RGD:5508377 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		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 chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G BECN1 beclin 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G CASP12 caspase 12 (gene/pseudogene) ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 disease_progression ISO RGD PMID:28147322 RGD:155791443 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr17:64,039,142...64,130,144
Ensembl chr17:64,039,080...64,130,819 		JBrowse link
G FAS Fas cell surface death receptor ISO mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382 		JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO RGD PMID:31007149 RGD:34888237 NCBI chr16:87,392,336...87,404,774
Ensembl chr16:87,383,953...87,404,779 		JBrowse link
G RPS6 ribosomal protein S6 ISO RGD PMID:31007149 RGD:34888237 NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236 		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 IAGP
EXP		 ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G FAT4 FAT atypical cadherin 4 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome		 CTD
ClinVar		 PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		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 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 PMID:28518168 More... NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		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 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 2
ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2		 ClinVar
OMIM		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		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 IAGP ClinVar Annotator: match by term: Ventriculomegaly and arthrogryposis
ClinVar Annotator: match by term: KIDINS220-related condition
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:27005418 PMID:28492532 More... NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		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 IAGP ClinVar Annotator: match by term: Warburg-cinotti syndrome ClinVar
OMIM		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		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 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2		 ClinVar
OMIM		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 ClinVar PMID:25741868 PMID:28492532 PMID:28659821 NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant
ClinVar Annotator: match by term: Weill-Marchesani syndrome 2		 ClinVar PMID:9399842 PMID:11524736 PMID:11748851 PMID:12938084 PMID:14695540 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC126862125 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48821930-48823129 IAGP ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 ClinVar PMID:25741868 NCBI chr15:48,529,733...48,530,932 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant ClinVar PMID:25741868 PMID:27906200 PMID:27930701 PMID:28492532 NCBI chr15:48,644,684...48,644,733 JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130068372 ATAC-STARR-seq lymphoblastoid silent region 20879 IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,034,854...65,035,003 JBrowse link
G LOC130068373 ATAC-STARR-seq lymphoblastoid silent region 20880 IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,035,064...65,035,293 JBrowse link
G LOC130068374 ATAC-STARR-seq lymphoblastoid active region 29712 IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,035,394...65,035,453 JBrowse link
G ZC3H12B zinc finger CCCH-type containing 12B IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,034,826...65,507,887
Ensembl chr  X:65,034,788...65,507,887 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		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 IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome		 ClinVar
OMIM		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G TTC36-AS1 TTC36 and KMT2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar Annotator: match by term: KMT2A-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:118,511,918...118,531,094
Ensembl chr11:118,510,273...118,531,141 		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 IAGP ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr16:55,509,072...55,586,666
Ensembl chr16:55,509,072...55,586,666 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP
EXP		 ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
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 Emery-Dreifuss 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
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
OMIM		 PMID:8589715 PMID:8595406 PMID:9536090 PMID:9536098 PMID:10220866 More... NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G LMNA lamin A/C IAGP 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 chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
G SUN1 Sad1 and UNC84 domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:815,557...874,934
Ensembl chr 7:816,615...896,435 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:28492532 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		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 IAGP ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence ClinVar NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		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 INE1 inactivation escape 1 IAGP ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy ClinVar PMID:28492532 NCBI chr  X:47,204,848...47,205,861
Ensembl chr  X:47,204,921...47,205,865 		JBrowse link
G LOC126863253 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:47057593-47058792 IAGP ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy
ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr  X:47,198,194...47,199,393 JBrowse link
G LOC130068210 ATAC-STARR-seq lymphoblastoid silent region 20798 IAGP ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy ClinVar NCBI chr  X:47,193,952...47,194,101 JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP
EXP		 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
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 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      musculoskeletal system disease 21004
        arthropathy 6224
          Anomalous Coracoclavicular Joint 0
          Arthralgia + 4
          Behcet's syndrome arthropathy 0
          Brachydactylous Dwarfism Mseleni Type 0
          Contracture + 377
          Crystal Arthropathies + 295
          De Quervain disease 0
          Dwarfism Stiff Joint Ocular Abnormalities 0
          Femoracetabular Impingement 0
          Flynn Aird Syndrome 0
          Frank-Ter Haar syndrome 1
          Hallux Limitus 0
          Hallux Rigidus 0
          Joint Deformities, Acquired 0
          Joint Instability + 71
          Joint Loose Bodies 0
          Laplane Fontaine Lagardere Syndrome 0
          Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 0
          Leri Pleonosteosis 0
          Lofgren’s syndrome 0
          Metatarsalgia + 0
          Morillo-Cucci Passarge Syndrome 0
          Pfeiffer Palm Teller Syndrome 0
          Plica syndrome 0
          Short Stature and Locking Fingers 0
          Synovial Chondromatosis + 0
          Temporomandibular Joint Disorders + 30
          Thai Symphalangism Syndrome 0
          Weill-Marchesani Syndrome 2 5
          ankylosis + 442
          arthritis + 5071
          arthrogryposis multiplex congenita + 322
          articular cartilage disease + 2
          autoimmune interstitial lung, joint, and kidney disease 93
          bursitis + 5
          ganglion or cyst of synovium/tendon/bursa 0
          hemarthrosis + 3
          hereditary arterial and articular multiple calcification syndrome + 368
          hydrarthrosis 0
          hypermobility syndrome 0
          nail-patella syndrome + 16
          neurogenic arthropathy + 2
          patellofemoral pain syndrome 0
          primary hypertrophic osteoarthropathy + 3
          progressive pseudorheumatoid arthropathy of childhood 1
          proximal symphalangism + 8
          secondary hypertrophic osteoarthropathy 0
          shoulder impingement syndrome 33
          spondyloarthropathy + 547
          synovitis + 9
          tenosynovitis + 0
          transient arthritis + 0
          villonodular synovitis + 0
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      musculoskeletal system disease 21004
        connective tissue disease 16001
          bone disease 12638
            bone inflammation disease 6250
              arthropathy 6224
                Anomalous Coracoclavicular Joint 0
                Arthralgia + 4
                Behcet's syndrome arthropathy 0
                Brachydactylous Dwarfism Mseleni Type 0
                Contracture + 377
                Crystal Arthropathies + 295
                De Quervain disease 0
                Dwarfism Stiff Joint Ocular Abnormalities 0
                Femoracetabular Impingement 0
                Flynn Aird Syndrome 0
                Frank-Ter Haar syndrome 1
                Hallux Limitus 0
                Hallux Rigidus 0
                Joint Deformities, Acquired 0
                Joint Instability + 71
                Joint Loose Bodies 0
                Laplane Fontaine Lagardere Syndrome 0
                Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 0
                Leri Pleonosteosis 0
                Lofgren’s syndrome 0
                Metatarsalgia + 0
                Morillo-Cucci Passarge Syndrome 0
                Pfeiffer Palm Teller Syndrome 0
                Plica syndrome 0
                Short Stature and Locking Fingers 0
                Synovial Chondromatosis + 0
                Temporomandibular Joint Disorders + 30
                Thai Symphalangism Syndrome 0
                Weill-Marchesani Syndrome 2 5
                ankylosis + 442
                arthritis + 5071
                arthrogryposis multiplex congenita + 322
                articular cartilage disease + 2
                autoimmune interstitial lung, joint, and kidney disease 93
                bursitis + 5
                ganglion or cyst of synovium/tendon/bursa 0
                hemarthrosis + 3
                hereditary arterial and articular multiple calcification syndrome + 368
                hydrarthrosis 0
                hypermobility syndrome 0
                nail-patella syndrome + 16
                neurogenic arthropathy + 2
                patellofemoral pain syndrome 0
                primary hypertrophic osteoarthropathy + 3
                progressive pseudorheumatoid arthropathy of childhood 1
                proximal symphalangism + 8
                secondary hypertrophic osteoarthropathy 0
                shoulder impingement syndrome 33
                spondyloarthropathy + 547
                synovitis + 9
                tenosynovitis + 0
                transient arthritis + 0
                villonodular synovitis + 0
paths to the root