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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:bone inflammation disease
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Accession:DOID:3342 term browser browse the term
Definition:A bone disease that results_in inflammation of the located_in bone. (DO)
Synonyms:exact_synonym: Bone Inflammation;   bone inflammatory disease;   inflammatory disorder of bone;   osteitis
 primary_id: MESH:D010000
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
adult-onset Still's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr17:15,286,338...15,310,567
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
G Fcgr3a Fc gamma receptor 3A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:42,384,433...42,424,725 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)		 CTD
RGD		 PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdm5a lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G RT1-Ba RT1 class II, locus Ba severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-M5 RT1 class Ib, locus M5 no_association ISO DNA:polymorphisms:cds:HLA-B2705 (human) RGD PMID:21927904 RGD:10755579 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:82,616,978...82,632,169
Ensembl chr10:82,120,564...82,134,352 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:32188494 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9605588 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:10,211,260...10,218,989
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Grp gastrin releasing peptide treatment ISO associated with chronic kidney disease RGD PMID:32192106 RGD:329961569 NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061 		JBrowse link
G Gsn gelsolin disease_progression ISO protein:decreased expression:blood (human) RGD PMID:26941566 RGD:329336117 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 susceptibility IAGP DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
ARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO
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 chr 6:112,619,228...112,644,089
Ensembl chr 6:106,888,284...106,913,117 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO
ISS		 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 chr 1:143,633,167...143,656,228
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome | ClinVar Annotator: match by term: SLC2A10-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
Arthralgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor treatment IMP associated with osteoarthritis RGD PMID:31479064 RGD:597015765 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7543699 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369261 NCBI chr12:47,802,002...47,819,503
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Arthralgia ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Arthralgias ClinVar PMID:24449199 PMID:28492532 NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO RGD PMID:10894769 RGD:734569 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G B2m beta-2 microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Cd40 CD40 molecule ISO associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) RGD PMID:23256180 RGD:7248721 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: therapeutic CTD PMID:12882836 NCBI chr 4:164,411,485...164,419,403
Ensembl chr 4:162,725,446...162,733,542 		JBrowse link
G Cnr2 cannabinoid receptor 2 IMP RGD PMID:18075852 RGD:2316223 NCBI chr 5:153,408,968...153,435,092
Ensembl chr 5:148,125,604...148,151,548 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17299831 PMID:24144632 PMID:26640276 PMID:36121554 PMID:37358659 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Copa COPI coat complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:25894502 NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Arthritis ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12673791 More... NCBI chr 5:127,893,450...127,911,347
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Crp C-reactive protein ISO associated with Lupus Erythematosus, Systemic;DNA:SNP RGD PMID:17596285 RGD:5508454 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human)
DNA:SNP:exon:F158V (rs396991)(human)		 RGD PMID:19026120 PMID:19005160 RGD:5508432, RGD:5508443 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) RGD PMID:21844150 RGD:5509918 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) RGD PMID:19035472 RGD:8549572 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO RGD PMID:32743529 RGD:40924631 NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) RGD PMID:16461442 RGD:1601085 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:20472930 RGD:5147787 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human) RGD PMID:10648455 RGD:7364930 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-M5 RT1 class Ib, locus M5 ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple (human) RGD PMID:10648455 RGD:7364930 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Sele selectin E ISO RGD PMID:16207337 RGD:1580041 NCBI chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741 		JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr17:12,756,493...12,830,927
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO associated with Behcet Syndrome;DNA:haplotype: : RGD PMID:19395541 RGD:7777177 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:92,796,628...92,799,108
Ensembl chr 1:83,669,084...83,671,564 		JBrowse link
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otof otoferlin ISO ClinVar Annotator: match by term: TODV SYNDROME ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:22575033 PMID:28492532 More... NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
arthrogryposis multiplex congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 PMID:36945405 NCBI chr 3:121,266,291...121,271,827
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:26004201 PMID:26752647 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520 PMID:16826531 NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Col25a1 collagen type XXV alpha 1 chain ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Arthrogryposis | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31694722 NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28317099 PMID:31230720 NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh8 myosin heavy chain 8 ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:31680123 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:2567381 PMID:19454545 PMID:20839240 PMID:21911697 PMID:22473935 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Senp7 SUMO specific peptidase 7 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr11:44,423,733...44,584,129
Ensembl chr11:44,423,735...44,564,711 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita		 ClinVar
RGD		 PMID:25741868 PMID:12592607 RGD:1599481 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:12865991 RGD:1599490 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:11738357 PMID:17339586 PMID:23678273 PMID:23757202 PMID:24692096 More... NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:143,633,167...143,656,228
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
arthrogryposis multiplex congenita-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | ClinVar Annotator: match by term: LGI4-related condition OMIM
ClinVar		 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28318499 PMID:28490743 More... NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
arthrogryposis multiplex congenita-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type ClinVar PMID:25741868 PMID:27782104 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type OMIM
ClinVar		 PMID:17159980 PMID:17503513 PMID:19542096 PMID:21572417 PMID:24319099 More... NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
arthrogryposis multiplex congenita-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl2 SCY1 like pseudokinase 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:31960134 NCBI chr 7:24,064,404...24,117,338
Ensembl chr 7:24,064,404...24,117,305 		JBrowse link
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 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
arthrogryposis multiplex congenita-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 OMIM
ClinVar		 PMID:9288096 PMID:11523564 PMID:17503336 PMID:18519876 PMID:18827015 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
arthrogryposis multiplex congenita-6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neb nebulin ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 OMIM
ClinVar		 PMID:9536098 PMID:12207938 PMID:15221447 PMID:15336686 PMID:16199547 More... NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 ClinVar PMID:9536098 PMID:12207938 PMID:15336686 PMID:16199547 PMID:16917880 More... NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617 		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 ISO OMIM NCBI chr  X:120,634,966...120,749,569
Ensembl chr  X:120,634,968...120,749,513 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
Arthrogryposis, Impaired Intellectual Development, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agl amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome ClinVar PMID:19299494 PMID:24031089 PMID:28328131 PMID:28492532 NCBI chr 2:207,389,949...207,445,959
Ensembl chr 2:204,705,053...204,760,828 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis syndrome ClinVar PMID:25741868 PMID:26945064 PMID:29805041 PMID:35169139 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome | ClinVar Annotator: match by term: SLC35A3-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19299494 PMID:19763152 More... NCBI chr 2:204,620,103...204,659,319
Ensembl chr 2:204,579,174...204,659,319 		JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868 PMID:31319225 NCBI chr 6:112,619,228...112,644,089
Ensembl chr 6:106,888,284...106,913,117 		JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar		 PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16896922 More... NCBI chr 1:143,633,167...143,656,228
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 | ClinVar Annotator: match by term: VIPAS39-related condition OMIM
ClinVar		 PMID:20190753 PMID:22753090 PMID:23002115 PMID:25741868 PMID:26019847 More... NCBI chr 6:112,619,228...112,644,089
Ensembl chr 6:106,888,284...106,913,117 		JBrowse link
arthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO PPAC, OMIM:208230 RGD PMID:10471507 RGD:1599850 NCBI chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126 		JBrowse link
G Ltf lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Tbx4 T-box transcription factor 4 susceptibility ISO Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X RGD PMID:15106123 RGD:1601422 NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		JBrowse link
autoimmune interstitial lung, joint, and kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr1 atypical chemokine receptor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,203,011...86,212,500
Ensembl chr13:83,670,183...83,680,065 		JBrowse link
G Aim2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:88,397,516...88,439,325
Ensembl chr13:85,866,284...85,906,975 		JBrowse link
G Apcs amyloid P component, serum ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298 		JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,176,767...86,178,819
Ensembl chr13:83,644,470...83,646,355 		JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:87,261,964...87,286,911
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:87,216,139...87,252,155
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G B4galt3 beta-1,4-galactosyltransferase 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448 		JBrowse link
G C13h1orf226 similar to human chromosome 1 open reading frame 226 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,530,589...82,538,676
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,784,785...85,817,412
Ensembl chr13:85,786,483...85,817,749 		JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:87,203,021...87,212,710
Ensembl chr13:84,670,649...84,680,339 		JBrowse link
G Cd244 CD244 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,583,727...86,606,902
Ensembl chr13:84,052,493...84,074,492 		JBrowse link
G Cd48 Cd48 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,184,884...84,209,144
Ensembl chr13:84,185,532...84,209,142 		JBrowse link
G Cd84 CD84 molecule ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,327,580...84,367,153
Ensembl chr13:84,327,553...84,362,076 		JBrowse link
G Cfap126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,059,142...86,075,034
Ensembl chr13:83,526,657...83,542,552 		JBrowse link
G Cfap45 cilia and flagella associated protein 45 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:87,521,831...87,545,236
Ensembl chr13:84,981,728...85,012,878 		JBrowse link
G Copa COPI coat complex subunit alpha ISO
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 chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874 		JBrowse link
G Crp C-reactive protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dedd death effector domain-containing ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,755,874...83,769,982
Ensembl chr13:83,756,108...83,769,332 		JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,122,192...83,131,800
Ensembl chr13:83,122,193...83,131,285 		JBrowse link
G Dusp23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,097,899...85,100,054
Ensembl chr13:85,097,899...85,100,093 		JBrowse link
G F11r F11 receptor ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,406,229...86,429,819
Ensembl chr13:83,873,797...83,897,402 		JBrowse link
G Fcer1a Fc epsilon receptor Ia ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:88,218,427...88,224,723
Ensembl chr13:85,686,092...85,692,351 		JBrowse link
G Fcer1g Fc epsilon receptor Ig ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,181,908...86,186,766
Ensembl chr13:83,649,449...83,671,443 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,725,897...85,740,517
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Fcrl6 Fc receptor-like 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,062,709...85,072,308
Ensembl chr13:85,066,694...85,072,600 		JBrowse link
G Fcrla Fc receptor-like A ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,160,453...83,170,170
Ensembl chr13:83,160,398...83,170,762 		JBrowse link
G Fcrlb Fc receptor-like B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,148,685...83,157,157
Ensembl chr13:83,149,751...83,155,957 		JBrowse link
G Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,805,911...85,807,052 JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576 		JBrowse link
G Igsf9 immunoglobulin superfamily, member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,948,643...84,965,616
Ensembl chr13:84,948,619...84,965,607 		JBrowse link
G Itln1 intelectin 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,464,641...86,490,655
Ensembl chr13:83,948,124...83,958,227 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928 		JBrowse link
G Klhdc9 kelch domain containing 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,790,390...83,794,080
Ensembl chr13:83,790,269...83,793,354 		JBrowse link
G Ly9 lymphocyte antigen 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,079,345...84,100,783
Ensembl chr13:84,079,458...84,100,823 		JBrowse link
G Mnda myeloid cell nuclear differentiation antigen ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,017,888...86,035,556
Ensembl chr13:86,017,892...86,034,201 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:87,062,827...87,078,839
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420 		JBrowse link
G Nectin4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709 		JBrowse link
G Nhlh1 nescient helix loop helix 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,517,347...84,522,548
Ensembl chr13:84,517,289...84,525,094 		JBrowse link
G Nit1 nitrilase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,769,888...83,773,324
Ensembl chr13:83,765,941...83,773,332 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
G Nr1i3 nuclear receptor subfamily 1, group I, member 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,165,327...86,170,362
Ensembl chr13:83,632,899...83,637,906 		JBrowse link
G Olfml2b olfactomedin-like 2B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,869,414...82,906,607
Ensembl chr13:82,869,433...82,906,607 		JBrowse link
G Or10j2 olfactory receptor family 10 subfamily J member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,723,300...85,724,290
Ensembl chr13:85,719,234...85,724,767 		JBrowse link
G Or10j3 olfactory receptor family 10 subfamily J member 3 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,667,254...85,668,195
Ensembl chr13:85,662,666...85,669,540 		JBrowse link
G Or10j5 olfactory receptor family 10 subfamily J member 5 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,430,655...85,431,584
Ensembl chr13:85,424,254...85,432,107 		JBrowse link
G Or6k2 olfactory receptor family 6 subfamily K member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,186,442...86,190,391
Ensembl chr13:86,185,529...86,190,815 		JBrowse link
G Or6k4 olfactory receptor family 6 subfamily K member 14B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,164,244...86,165,191
Ensembl chr13:86,160,158...86,166,214 		JBrowse link
G Or6k6 olfactory receptor family 6 subfamily K member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,148,402...86,149,325
Ensembl chr13:86,147,303...86,152,153 		JBrowse link
G Or6n1 olfactory receptor family 6 subfamily N member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,106,912...86,107,850
Ensembl chr13:86,102,080...86,108,363 		JBrowse link
G Or6n2 olfactory receptor family 6 subfamily N member 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,076,857...86,087,100 JBrowse link
G Pcp4l1 Purkinje cell protein 4-like 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,588,992...83,612,631
Ensembl chr13:83,588,992...83,609,966 		JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
G Pfdn2 prefoldin subunit 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,772,301...83,791,367
Ensembl chr13:83,753,877...83,790,504 		JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,230,111...86,235,028
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sh2d1b SH2 domain containing 1B ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,485,076...82,519,401 JBrowse link
G Slamf1 signaling lymphocytic activation molecule family member 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,802,708...86,837,890
Ensembl chr13:84,270,316...84,305,497 		JBrowse link
G Slamf6 SLAM family member 6 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,384,561...84,405,300
Ensembl chr13:84,383,742...84,405,300 		JBrowse link
G Slamf7 SLAM family member 7 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,135,656...84,154,528
Ensembl chr13:84,136,899...84,154,105 		JBrowse link
G Slamf8 SLAM family member 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,047,729...85,057,571
Ensembl chr13:85,047,727...85,057,211 		JBrowse link
G Slamf9 SLAM family member 9 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,941,896...84,944,749
Ensembl chr13:84,941,982...84,944,748 		JBrowse link
G Spata46 spermatogenesis associated 46 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:82,541,183...82,544,808
Ensembl chr13:82,541,183...82,544,808 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Tagln2 transgelin 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,966,980...84,973,973
Ensembl chr13:84,967,009...84,973,972 		JBrowse link
G Tomm40l translocase of outer mitochondrial membrane 40 like ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,636,692...83,641,654
Ensembl chr13:83,638,195...83,641,654 		JBrowse link
G Tstd1 thiosulfate sulfurtransferase like domain containing 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,853,421...83,854,875
Ensembl chr13:83,822,035...83,854,885 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,875,719...84,910,706
Ensembl chr13:82,342,946...82,377,469
Ensembl chr 6:82,342,946...82,377,469 		JBrowse link
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,241,779...86,280,513
Ensembl chr13:83,709,330...83,716,076 		JBrowse link
G Uhmk1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,929,418...84,949,194
Ensembl chr13:82,401,187...82,416,292 		JBrowse link
G Usf1 upstream transcription factor 1 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:86,377,679...86,385,523
Ensembl chr13:83,822,035...83,854,885 		JBrowse link
G Usp21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:83,702,672...83,709,215
Ensembl chr13:83,702,631...83,708,717 		JBrowse link
G Vangl2 VANGL planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:84,462,731...84,489,404
Ensembl chr13:84,465,527...84,489,378 		JBrowse link
G Vsig8 V-set and immunoglobulin domain containing 8 ISO ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome ClinVar PMID:28492532 NCBI chr13:85,023,177...85,031,364
Ensembl chr13:85,023,177...85,031,364 		JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis ClinVar
OMIM		 PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chr10:56,277,134...56,332,229
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO ClinVar Annotator: match by term: Uromodulin-associated kidney disease ClinVar PMID:25741868 NCBI chr11:92,378,908...92,478,893
Ensembl chr11:78,874,414...78,974,377 		JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease ClinVar
OMIM
RGD		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... RGD:737832 NCBI chr 1:183,247,676...183,261,665
Ensembl chr 1:173,816,339...173,830,302 		JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
OMIM:158810		 CTD
ClinVar
MouseDO		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO 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 chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:15689448 PMID:16385454 More... NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:15689448 PMID:16385454 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
Bethlem Myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,039,720...90,475,196
Ensembl chr 9:90,039,605...90,470,958 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Asb18 ankyrin repeat and SOCS box-containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,531,350...90,595,953
Ensembl chr 9:90,531,596...90,595,848 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,729,772...101,761,456
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:25741868 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO 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 chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
RGD		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | 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 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,762,899...101,771,733
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,382,456...94,387,990
Ensembl chr 9:94,376,174...94,389,174 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,509,633...90,512,212
Ensembl chr 9:90,509,633...90,512,212 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Iqca1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,626,735...90,742,563
Ensembl chr 9:90,626,744...90,742,618 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:15689448 PMID:16385454 More... NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:11727201 PMID:12673792 PMID:12955720 PMID:15689448 PMID:16385454 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,454,498...100,490,023
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,454,828...99,497,069
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,991,628...98,996,515
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,001,044...99,014,340
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,465,535...101,498,766
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,822,242...99,866,722
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
Bethlem Myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
Bethlem Myopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27348394 PMID:28306225 More... NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
Beukes hip dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd37 ankyrin repeat domain 37 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type ClinVar PMID:25741868 NCBI chr16:53,001,487...53,004,545
Ensembl chr16:46,268,443...46,271,963 		JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:53,023,623...53,048,176
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 More... NCBI chr16:53,004,590...53,023,640
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:28492532 More... NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960 		JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28518168 PMID:29228253 PMID:32461654 NCBI chr19:50,282,337...50,324,010 JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
G Zfp469 zinc finger protein 469 ISO
ISS		 ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition
OMIM:229200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr19:50,282,337...50,324,010 JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2 | ClinVar Annotator: match by term: PRDM5-related condition OMIM
ClinVar		 PMID:8458232 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21664999 More... NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Bruck syndrome ClinVar PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO
ISS		 ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
OMIM:259450 | OMIM:609220		 ClinVar
MouseDO		 PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Bruck syndrome 1 ClinVar NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9129737 PMID:9481655 PMID:9536098 PMID:9927692 PMID:16199547 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by 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 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
Caffey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 PMID:28492532 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)		 ClinVar
CTD
OMIM
RGD		 PMID:1770532 PMID:2037280 PMID:2542316 PMID:2794057 PMID:2894346 More... RGD:5688296, RGD:11667069 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:31680123 PMID:32860008 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr13:64,974,419...65,037,604
Ensembl chr13:62,424,312...62,487,496 		JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... RGD:1601070 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 | ClinVar Annotator: match by term: ERCC1-related condition		 OMIM
CTD
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: ERCC1-related condition ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
chondrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar
RGD		 PMID:25741868 PMID:12297987 RGD:734570 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar PMID:25741868 NCBI chr 2:80,021,381...80,046,898
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
Chondrocalcinosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2		 OMIM
CTD
ClinVar		 PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 More... NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2 ClinVar PMID:2712793 PMID:11326272 PMID:19449425 PMID:25741868 PMID:28492532 NCBI chr 2:80,021,381...80,046,898
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
chondrodysplasia with joint dislocations gPAPP type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO
ISS		 ClinVar Annotator: match by term: BPNT2-related condition | ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type
OMIM:614078		 OMIM
ClinVar
MouseDO		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 More... NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570 		JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr19:56,186,860...56,213,886
Ensembl chr19:39,276,785...39,304,502 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISS OMIM:259680 MouseDO NCBI chr18:73,585,729...73,671,868
Ensembl chr18:71,311,020...71,395,709 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:25741868 PMID:28492532 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782 		JBrowse link
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis OMIM
ClinVar		 PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
Chronic recurrent multifocal osteomyelitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor type 1 ISO ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3 OMIM
ClinVar		 NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: GLE1-related condition | ClinVar Annotator: match by term: 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:9536098 PMID:16199547 PMID:16892327 PMID:17576681 More... NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
congenital myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276 		JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012 		JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:25741868 NCBI chr14:83,564,065...83,684,573
Ensembl chr14:79,340,513...79,461,041 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,384,810...52,408,698
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,511,773...52,567,951
Ensembl chr10:52,009,425...52,068,951 		JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Inclusion body myopathy autosomal 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 chr10:52,355,739...52,382,235
Ensembl chr10:51,856,738...51,883,236 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,422,148...52,445,296
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Drg1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:78,103,876...78,119,976
Ensembl chr14:78,103,876...78,119,953 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26489027 PMID:28492532 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 PMID:32812332 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774 		JBrowse link
G Mybpc2 myosin binding protein C2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 1:94,994,121...95,017,584
Ensembl chr 1:94,994,104...95,017,584 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 PMID:28492532 NCBI chr 3:164,537,211...164,582,441
Ensembl chr 3:144,098,190...144,122,084 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Myom2 myomesin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:74,520,148...74,592,658
Ensembl chr16:74,520,157...74,592,772 		JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274 		JBrowse link
G Nr2c1 nuclear receptor subfamily 2, group C, member 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:28,715,347...28,768,624
Ensembl chr 7:28,715,562...28,767,160 		JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:155,421,066...155,531,884
Ensembl chr 5:155,422,134...155,531,825 		JBrowse link
G Prg4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28492532 PMID:29498452 PMID:31230720 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) RGD PMID:21155763 RGD:11072411 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444 		JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr11:79,402,236...79,634,234
Ensembl chr11:79,402,239...79,634,133 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: CHRNG-related disorder | ClinVar Annotator: match by term: Multiple pterygium syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 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 chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phactr1 phosphatase and actin regulator 1 ISO 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 chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
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
ClinVar
MouseDO		 PMID:19853239 PMID:25741868 PMID:28492532 NCBI chr10:104,135,676...104,148,854
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO 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 chr 1:181,078,222...181,361,047
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: CANT1-related condition | ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr10:104,135,676...104,148,854
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Nomo1 Nodal modulator 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 1:96,505,460...96,556,280
Ensembl chr 1:96,505,484...96,556,279 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
distal arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Fbn2 fibrillin 2 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:29074562 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISS
ISO		 OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis		 MouseDO
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Usp14 ubiquitin specific peptidase 14 ISO ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement ClinVar PMID:25741868 PMID:35066879 NCBI chr18:1,018,111...1,057,727
Ensembl chr18:1,019,400...1,057,519 		JBrowse link
distal arthrogryposis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:30777867 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I ClinVar PMID:25741868 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Tpm2 tropomyosin 2 ISO 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 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
Distal Arthrogryposis Type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080 More... NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
Distal Arthrogryposis Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif, 15 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 12 OMIM
ClinVar		 PMID:35962790 NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249 		JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,035,165...61,040,683
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,731,601...60,778,456
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:63,336,151...63,396,254
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:30777867 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:25741868 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,196,585...60,206,152
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,424,176...61,439,018
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 4:71,169,749...71,173,223
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:61,462,070...61,474,832
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A OMIM
ClinVar		 PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 More... NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A ClinVar PMID:28492532 NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B OMIM
ClinVar		 PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 More... NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
distal arthrogryposis type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl11 myosin light chain 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545 		JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM
ClinVar		 PMID:16199547 PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO DNA:missense mutation:exon:p.A234T (769C>T) (human)
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 ClinVar
RGD		 PMID:16642020 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 More... RGD:12792960 NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B ClinVar PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 More... NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 | ClinVar Annotator: match by term: TNNI2-related condition OMIM
ClinVar		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 More... NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560 		JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 ClinVar PMID:25741868 NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 2B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 | ClinVar Annotator: match by term: TNNT3-related condition OMIM
ClinVar		 PMID:9536098 PMID:10525521 PMID:12865991 PMID:17576681 PMID:19142688 More... NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535 		JBrowse link
distal arthrogryposis type 2B3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) OMIM
ClinVar		 PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 ClinVar PMID:17339586 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 More... NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome OMIM
ClinVar		 PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
distal arthrogryposis type 5D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 5D | ClinVar Annotator: match by term: ECEL1-related condition OMIM
ClinVar		 PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 More... NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition		 ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 More... NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Myh8 myosin heavy chain 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)		 OMIM
CTD
ClinVar
RGD		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr10:52,462,509...52,492,105
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch OMIM
ClinVar		 PMID:8423615 PMID:9536098 PMID:11152147 PMID:17576681 PMID:24726473 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: DSE-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
G Tspyl1 TSPY-like 1 ISO ClinVar Annotator: match by term: DSE-related condition ClinVar PMID:28492532 NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554
Ensembl chr20:38,081,951...38,084,554 		JBrowse link
Experimental Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP protein:increased expression:serum RGD PMID:6163339 RGD:10046032 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A IEP
ISO		 mRNA:altered expression:liver
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:intestinal mucosa (rat)		 CTD
RGD		 PMID:17827786 PMID:19152228 PMID:17827786 RGD:2315573, RGD:11040994 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 IEP mRNA:decreased expression:kidney RGD PMID:22974786 RGD:11038789 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 IEP mRNA:decreased expression:small intestine RGD PMID:19152228 RGD:2315573 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Acan aggrecan treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Ace angiotensin I converting enzyme IEP RGD PMID:20213806 RGD:2325221 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Acsl1 acyl-CoA synthetase long-chain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr16:52,487,870...52,554,110
Ensembl chr16:45,755,254...45,821,541 		JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427 		JBrowse link
G Acsl5 acyl-CoA synthetase long-chain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988084 NCBI chr 1:264,294,851...264,341,943
Ensembl chr 1:254,292,521...254,336,607 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP RGD PMID:23897050 RGD:13703039 NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:23897050 RGD:13703039 NCBI chr 6:46,601,583...46,663,690
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing IEP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23326410 PMID:21681567 PMID:19026984 RGD:5685385, RGD:5686814 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adk adenosine kinase IMP RGD PMID:11160636 RGD:6482663 NCBI chr15:2,912,543...3,295,745
Ensembl chr15:2,863,244...3,246,510 		JBrowse link
G Ahcy adenosylhomocysteinase IDA RGD PMID:11123369 RGD:1598898 NCBI chr 3:164,029,338...164,044,562
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Ahr aryl hydrocarbon receptor exacerbates ISO
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25194622 PMID:27032495 PMID:26221077 RGD:407420267, RGD:405878089 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 treatment IDA RGD PMID:22391142 RGD:10041007 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alox15 arachidonate 15-lipoxygenase ISO RGD PMID:19675173 RGD:5509599 NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874 		JBrowse link
G Anxa1 annexin A1 IMP
ISO		 RGD PMID:10403283 PMID:23267026 RGD:2306928, RGD:7421573 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Anxa2 annexin A2 ameliorates IMP RGD PMID:24819400 RGD:150519886 NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Aoc3 amine oxidase, copper containing 3 IMP RGD PMID:16947396 RGD:2313925 NCBI chr10:86,773,018...86,780,961 JBrowse link
G Apoa4 apolipoprotein A4 IEP protein:decreased expression:blood serum (rat) RGD PMID:10892728 RGD:5685694 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Arrb1 arrestin, beta 1 IEP protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061 		JBrowse link
G Arrb2 arrestin, beta 2 IEP protein:increased expression:knee, synoviocyte (rat) RGD PMID:20965243 RGD:5509895 NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,146,818...55,154,850 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IMP RGD PMID:17408934 RGD:5144054 NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:21199477 PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:21199477 PMID:22978269 RGD:10054249, RGD:10054498 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP RGD PMID:15001555 RGD:1625760 NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:21406003 RGD:6483549 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Btk Bruton tyrosine kinase treatment IMP RGD PMID:22228807 PMID:32083858 RGD:11040701, RGD:151665122 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C3 complement C3 treatment ISO
IDA		 RGD PMID:20051658 PMID:7347767 RGD:7411688, RGD:11041098 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5 complement C5 ISO
IMP		 RGD PMID:20975959 PMID:12355496 RGD:5130175, RGD:1600637 NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Cabin1 calcineurin binding protein 1 ISO RGD PMID:22275266 RGD:10054391 NCBI chr20:12,892,750...13,014,801
Ensembl chr20:12,893,358...13,015,357 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cbl Cbl proto-oncogene treatment IDA RGD PMID:16984225 RGD:2306289 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cblb Cbl proto-oncogene B IMP RGD PMID:16984225 RGD:2306289 NCBI chr11:62,058,829...62,225,904
Ensembl chr11:48,592,703...48,756,839 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IMP
IDA
IEP		 mRNA, protein:increased expression:synovium RGD PMID:18292571 PMID:24583103 PMID:17052673 PMID:18726678 RGD:2307052, RGD:11526142, RGD:2307143, RGD:2307008 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IEP mRNA, protein:increased expression:synovium, monocytes RGD PMID:17052673 RGD:2307143 NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IMP
IEP		 mRNA, protein:increased expression:synovium, monocytes RGD PMID:9637726 PMID:17052673 RGD:4889940, RGD:2307143 NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 onset ISO RGD PMID:17178563 RGD:6483780 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccn1 cellular communication network factor 1 ameliorates IMP RGD PMID:27653023 RGD:150429754 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO
IEP		 RGD PMID:18608173 PMID:14674010 RGD:5688144, RGD:1582346 NCBI chr 8:132,433,711...132,439,266 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP RGD PMID:16320322 RGD:4144893 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 treatment IEP mRNA:increased expression:ankle (rat) RGD PMID:14674010 PMID:22289897 RGD:1582346, RGD:5687744 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd28 Cd28 molecule IEP RGD PMID:18601859 RGD:2307202 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd4 Cd4 molecule treatment ISO
IMP		 RGD PMID:15479897 PMID:12010568 RGD:10058957, RGD:10058960 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20435931 RGD:5490544 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment IDA
ISO
IEP		 protein:increased expression:plasma (rat) RGD PMID:27218142 PMID:7689748 PMID:22611405 RGD:11344958, RGD:11352696, RGD:11352298 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd44 CD44 molecule IEP protein:increased expression:joint, macrophage, lymphocyte RGD PMID:8639178 RGD:2289388 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21852528 RGD:6483461 NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd59b CD59b molecule IDA RGD PMID:14519760 RGD:1600483 NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
G Cd69 Cd69 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12882836 NCBI chr 4:164,411,485...164,419,403
Ensembl chr 4:162,725,446...162,733,542 		JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:22004797 RGD:6902903 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cdc42 cell division cycle 42 ISO protein:increased activation:bone marrow, macrophage RGD PMID:21266780 RGD:5688271 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:10395320 RGD:8552686 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cfh complement factor H ISO RGD PMID:19828624 RGD:5684557 NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16200597 PMID:21188452 PMID:23326410 PMID:24709313 PMID:25194622 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Cp ceruloplasmin IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19330884 PMID:19205849 RGD:2314686 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cpox coproporphyrinogen oxidase IEP protein:decreased activity:liver (rat) RGD PMID:9173682 RGD:1600958 NCBI chr11:55,405,778...55,415,761
Ensembl chr11:41,936,591...41,946,746 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IMP RGD PMID:17550594 RGD:1626231 NCBI chr10:89,540,192...89,583,466
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19330884 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf1 colony stimulating factor 1 IEP protein:increased expression:dorsal root ganglion RGD PMID:32510872 RGD:127338469 NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment IMP RGD PMID:18434589 RGD:151665814 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:12742377 RGD:11039465 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Csk C-terminal Src kinase IMP RGD PMID:10411542 RGD:5134371 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment IMP
ISO		 RGD PMID:22354915 PMID:7543497 RGD:7204500, RGD:7204519 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Ctsb cathepsin B IEP mRNA:increased expression:knee joint, synovium (rat) RGD PMID:17195213 RGD:2315521 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsk cathepsin K IEP mRNA:increased expression:synovium, bone marrow RGD PMID:15353610 RGD:1601025 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctss cathepsin S ISO RGD PMID:21439785 RGD:5686915 NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:11465708 RGD:4892002 NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP protein:increased expression:spinal cord RGD PMID:17123734 PMID:11465708 RGD:4891969, RGD:4892002 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:19096963 RGD:4889415 NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 severity IMP RGD PMID:10358204 RGD:5135272 NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO RGD PMID:24819400 RGD:150519886 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dhodh dihydroorotate dehydrogenase IMP RGD PMID:15182735 RGD:2316231 NCBI chr19:54,460,636...54,483,049
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO CTD Direct Evidence: marker/mechanism CTD PMID:20974942 NCBI chr19:40,149,505...40,152,225
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Drd1 dopamine receptor D1 treatment IEP
IDA		 mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 PMID:23762129 RGD:7248592, RGD:7248592 NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 treatment IEP
IDA		 mRNA:increased expression:corpus striatum (rat) RGD PMID:23762129 PMID:23762129 RGD:7248592, RGD:7248592 NCBI chr 8:58,605,403...58,669,339
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Edn1 endothelin 1 ISO mRNA:increased expression:inguinal lymph node (mouse) RGD PMID:22249931 RGD:8661695 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:7589090 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Esr1 estrogen receptor 1 treatment ISO associated with Osteoporosis RGD PMID:20112355 RGD:10045851 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 IDA RGD PMID:16269464 RGD:5508854 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21436072 RGD:5147764 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F2r coagulation factor II (thrombin) receptor severity ISO RGD PMID:19674841 RGD:7387269 NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:12511586 RGD:735010 NCBI chr 2:28,507,003...28,519,954
Ensembl chr 2:26,772,278...26,785,226 		JBrowse link
G Faslg Fas ligand treatment IMP RGD PMID:22354915 RGD:7204500 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO
IEP		 protein:increased expression:dorsal root ganglion
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12875993 PMID:16670289 PMID:32510872 RGD:9685708, RGD:127338469 NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G Fcgr2a Fc gamma receptor 2A onset ISO RGD PMID:18354234 PMID:16623928 RGD:5508446, RGD:5508457 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO RGD PMID:23341540 RGD:11344930 NCBI chr13:85,725,897...85,740,517
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fgf8 fibroblast growth factor 8 IMP RGD PMID:18699993 RGD:2314157 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:19180491 RGD:6483591 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 IAGP RGD PMID:10857786 RGD:61066 NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit treatment IEP RGD PMID:24186846 RGD:405650594 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Foxp3 forkhead box P3 treatment IEP mRNA,protein:decreased expression:lung RGD PMID:29264841 PMID:23643080 RGD:38549364, RGD:38599003 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gja1 gap junction protein, alpha 1 IMP RGD PMID:23165424 RGD:7207259 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gli1 GLI family zinc finger 1 treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO RGD PMID:23911657 RGD:11051957 NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 disease_progression
treatment		 IEP protein:increased expression:aorta (rat)
protein:altered expression:T cell (rat)		 RGD PMID:28653218 PMID:28349925 PMID:28631356 RGD:13513975, RGD:13513979, RGD:13513976 NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Grn granulin precursor ISO RGD PMID:21393509 RGD:5509782 NCBI chr10:87,887,834...87,893,938
Ensembl chr10:87,387,638...87,393,775 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16713974 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Gusb glucuronidase, beta treatment IEP RGD PMID:827200 RGD:42724460 NCBI chr12:32,337,281...32,350,838
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 IEP mRNA,protein:altered expression:bone: RGD PMID:25264706 RGD:9686117 NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137 		JBrowse link
G Hdac6 histone deacetylase 6 treatment ISO RGD PMID:23541634 RGD:9681550 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IDA RGD PMID:21679445 RGD:8693318 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:altered localization:cytoplasm, extracellular matrix RGD PMID:12384917 RGD:728698 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17119970 RGD:5508468 NCBI chr 2:29,732,163...29,754,276
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hp haptoglobin IEP mRNA, protein:increased expression:tendon, ankle
protein:increased expression:serum		 RGD PMID:12801280 PMID:15899029 RGD:1626375, RGD:1626370 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IDA RGD PMID:15529360 PMID:10882416 RGD:1624244, RGD:12910542 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Ifng interferon gamma IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19203382 PMID:22450443 PMID:12412757 PMID:7774621 RGD:2311498, RGD:10755750 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:plasma RGD PMID:19246225 RGD:2306697 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP mRNA, protein:increased expression:kidney, serum RGD PMID:14642797 RGD:10402760 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment ISO
IMP		 RGD PMID:21087862 PMID:19652024 RGD:7495772, RGD:7495778 NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma treatment IDA RGD PMID:16684367 RGD:12791276 NCBI chr  X:157,358,279...157,397,563
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 treatment IEP
ISO
IDA		 CTD Direct Evidence: marker/mechanism|therapeutic
protein:decreased expression:serum:		 CTD
RGD		 PMID:20974942 PMID:22450443 PMID:19193354 PMID:19169271 PMID:23140046 More... RGD:2311059, RGD:8662976, RGD:7193038, RGD:7364838, RGD:1626677 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 treatment ISO
IMP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10444273 PMID:17665443 PMID:11860705 RGD:4889497, RGD:8549606 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il15 interleukin 15 ISO RGD PMID:20188418 RGD:5000761 NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il17a interleukin 17A treatment IMP
ISO
IEP
IDA		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 CTD
RGD		 PMID:20974942 PMID:20925596 PMID:23377547 PMID:21194185 PMID:20925596 RGD:4781444, RGD:9130803, RGD:9068936, RGD:4781444 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 disease_progression IEP
IMP		 RGD PMID:19096963 PMID:15147345 RGD:4889415, RGD:4889503 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha IDA
IEP		 protein:increased expression:serum: RGD PMID:20379758 PMID:19169271 RGD:6907373, RGD:8662976 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta treatment IDA
IEP
ISO		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (rat)		 CTD
RGD		 PMID:19330884 PMID:20131233 PMID:20974942 PMID:22450443 PMID:21557995 More... RGD:7175317, RGD:13792834, RGD:10755447, RGD:7193038 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO
IEP		 rat model treated with human protein
human gene in a rat model
mRNA:increased expression:popliteal lymph node (rat)
mouse model treated with human protein		 RGD PMID:15270736 PMID:12727108 PMID:10921508 PMID:22267332 PMID:23006786 RGD:1626677, RGD:8551745, RGD:8551741, RGD:8549801, RGD:6907376 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 treatment IEP
IDA		 protein:increased expression:serum: RGD PMID:19169271 PMID:2492102 RGD:8662976, RGD:10047055 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il20 interleukin 20 IMP RGD PMID:20722035 RGD:5147393 NCBI chr13:44,933,249...44,936,893
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha IDA RGD PMID:17928458 RGD:2325988 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472598 NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Il4 interleukin 4 treatment IMP
ISO
IEP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:10444273 PMID:16869003 PMID:23972727 PMID:23140046 RGD:2317300, RGD:10402790, RGD:7193038 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 treatment IEP
ISO
IDA
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20131233 PMID:20974942 PMID:22450443 PMID:24028507 PMID:8607900 More... RGD:10755447, RGD:11060267, RGD:11049553, RGD:11049551 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO RGD PMID:20626857 RGD:5509945 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Itga4 integrin subunit alpha 4 treatment IMP RGD PMID:12969328 RGD:9698440 NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
G Itgb2 integrin subunit beta 2 IMP RGD PMID:8881759 RGD:6482229 NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Itgb3 integrin subunit beta 3 IMP protein:increased expression:endothelial cell RGD PMID:16869003 RGD:2317300 NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:19265135 RGD:6482234 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Jak1 Janus kinase 1 treatment IMP RGD PMID:29452839 RGD:19165139 NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
G Jak2 Janus kinase 2 treatment ISO
IDA		 RGD PMID:22339472 PMID:23711144 PMID:22800927 RGD:10403066, RGD:10403081, RGD:10403074 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Jak3 Janus kinase 3 treatment IMP
IEP		 RGD PMID:25762693 PMID:18234077 PMID:21434883 RGD:11533938, RGD:11533944, RGD:11533942 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO RGD PMID:25131209 RGD:150521609 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Klkb1 kallikrein B1 IMP
IEP		 RGD PMID:22739815 PMID:9783057 RGD:7297047, RGD:7327138 NCBI chr16:53,690,180...53,714,570
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
G Kng2 kininogen 2 IEP peptidoglycan-polysaccharide-induced arthritis in Lewis rats RGD PMID:9214434 PMID:1996642 RGD:1600547, RGD:11059895 NCBI chr11:91,418,470...91,440,841
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Kyat1 kynurenine aminotransferase 1 IMP RGD PMID:16984225 RGD:2306289 NCBI chr 3:13,459,598...13,493,308
Ensembl chr 3:13,459,591...13,493,355 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15142272 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lgals3 galectin 3 IEP RGD PMID:16507131 RGD:1625684 NCBI chr15:23,099,795...23,111,731
Ensembl chr15:20,607,692...20,632,025 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO RGD PMID:16331767 RGD:10412332 NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Mif macrophage migration inhibitory factor IDA RGD PMID:10765927 RGD:1642012 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Mir146a microRNA 146a ISO mRNA:increased expression:joints (mouse) RGD PMID:22660635 RGD:155663483 NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610 		JBrowse link
G Mir152 microRNA 152 ISO
IEP		 CTD Direct Evidence: marker/mechanism
miRNA:decreased exression:synovial membrane of synovial joint		 CTD
RGD		 PMID:25194984 PMID:25194984 RGD:21066343 NCBI chr10:82,329,383...82,329,467
Ensembl chr10:81,832,936...81,833,020 		JBrowse link
G Mir23b microRNA 23b treatment ISO mRNA:decreased expression:joint (mouse) RGD PMID:22660635 PMID:22660635 RGD:155663483, RGD:155663483 NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763 		JBrowse link
G Mir26a microRNA 26a EXP CTD Direct Evidence: therapeutic CTD PMID:24423102 NCBI chr 8:127,633,048...127,633,137
Ensembl chr 8:118,755,289...118,755,378 		JBrowse link
G Mmp1 matrix metallopeptidase 1 IDA
IEP		 RGD PMID:21288455 PMID:24011916 PMID:21108488 RGD:7207362, RGD:8549748, RGD:7207365 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment IEP
IDA		 RGD PMID:24244039 PMID:11435459 RGD:8694124, RGD:1582329 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:ankle joint 		CTD
RGD		 PMID:20974942 PMID:20703013 PMID:24244039 PMID:24244039 PMID:24011916 More... RGD:7241231, RGD:8694124, RGD:8694124, RGD:8549748, RGD:8693318 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:cartilage, serum, synovial fluid RGD PMID:17463159 RGD:1642035 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 susceptibility ISO DNA:transversion: :m.7778G>T (mouse) RGD PMID:19759059 RGD:5490297 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IEP RGD PMID:22391142 RGD:10041007 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO RGD PMID:20131263 RGD:8552884 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Myod1 myogenic differentiation 1 treatment IEP RGD PMID:23781298 RGD:9686078 NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Myog myogenin treatment IDA RGD PMID:23781298 RGD:9686078 NCBI chr13:48,297,476...48,300,065
Ensembl chr13:45,745,436...45,748,039 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 severity IAGP DNA:missense mutations:cds:p.M106V, p.M153T (rat) RGD PMID:12461526 RGD:628543 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO RGD PMID:21424514 PMID:20131263 RGD:5508728, RGD:8552884 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Nos2 nitric oxide synthase 2 IMP
ISO		 protein:increased expression:ankle joint (mouse) RGD PMID:12826065 PMID:21880869 RGD:1358527, RGD:5509060 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP RGD PMID:29337196 RGD:13504725 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Npsr1 neuropeptide S receptor 1 treatment IMP RGD PMID:24884567 RGD:9831205 NCBI chr 8:30,882,830...31,107,425
Ensembl chr 8:22,606,946...22,831,558 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 severity ISO RGD PMID:16905546 RGD:11073695 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO RGD PMID:21859686 RGD:6480864 NCBI chr 1:104,178,483...104,183,863
Ensembl chr 1:95,041,967...95,047,377 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO RGD PMID:21859686 RGD:6480864 NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment IEP RGD PMID:30967782 RGD:408364994 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nras NRAS proto-oncogene, GTPase IEP RGD PMID:18706093 RGD:2300006 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nts neurotensin IEP RGD PMID:8518953 RGD:9743903 NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423 		JBrowse link
G Orm1 orosomucoid 1 IEP protein:increased expression:liver RGD PMID:16166348 RGD:2316639 NCBI chr 5:76,766,637...76,776,149
Ensembl chr 5:76,772,941...76,776,154 		JBrowse link
G P2ry12 purinergic receptor P2Y12 IMP RGD PMID:22028806 RGD:6480518 NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:143,481,430...143,523,361 		JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IDA RGD PMID:17138865 RGD:6483527 NCBI chr 9:105,445,812...105,719,287
Ensembl chr 9:98,122,916...98,271,965 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 severity ISO RGD PMID:16356201 RGD:5684009 NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pdyn prodynorphin treatment IEP RGD PMID:25102697 RGD:401851905 NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:knee joint, blood vessels (mouse) RGD PMID:22548760 PMID:14613294 PMID:21982514 RGD:6484738, RGD:6771222, RGD:6771177 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO RGD PMID:18412166 RGD:6482696 NCBI chr 5:165,377,994...165,426,620
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO RGD PMID:20374644 PMID:18412166 RGD:6482684, RGD:6482696 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:20973954 RGD:6483801 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Pomc proopiomelanocortin treatment IEP RGD PMID:25102697 RGD:401851905 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: therapeutic CTD PMID:36181686 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Ptch1 patched 1 treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptger4 prostaglandin E receptor 4 treatment
disease_progression		 ISO
IEP
IMP		 CTD Direct Evidence: marker/mechanism
mRNA:increased expression:tarsal joint, synovium (rat)		 CTD
RGD		 PMID:18287210 PMID:20423341 PMID:11207665 PMID:18287210 RGD:10003041, RGD:10043377, RGD:10003052 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Ptges prostaglandin E synthase IEP mRNA, protein:increased expression:paw RGD PMID:12707354 RGD:2300108 NCBI chr 3:34,575,643...34,586,987 JBrowse link
G Ptges3 prostaglandin E synthase 3 IEP mRNA:increased expression:paw (rat) RGD PMID:12707354 RGD:2300108 NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP mRNA, protein:increased expression:synovium RGD PMID:22289897 RGD:5687744 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
IEP
ISO		 mRNA, protein:increased expression:synovium
protein:increased expression:autopod joint		 RGD PMID:18758904 PMID:22289897 PMID:21765105 RGD:2300221, RGD:5687744, RGD:5508310 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 IEP protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) RGD PMID:24998229 RGD:11532752 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20974942 NCBI chr 3:108,357,399...108,367,186
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO RGD PMID:21665435 PMID:19950279 RGD:5147558, RGD:5147586 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G S100a8 S100 calcium binding protein A8 IEP RGD PMID:8343166 RGD:633930 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643 		JBrowse link
G S100a9 S100 calcium binding protein A9 IEP RGD PMID:8343166 RGD:633930 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
G Serpinc1 serpin family C member 1 IEP protein:decreased expression:plasma RGD PMID:22781611 RGD:11035273 NCBI chr13:75,790,558...75,804,826
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194984 NCBI chr17:49,974,532...50,026,448
Ensembl chr17:45,234,097...45,330,736 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 severity ISO RGD PMID:17122779 RGD:5684943 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IEP protein:decreased expression:articular cartilage of joint RGD PMID:10449524 PMID:9744360 RGD:634208, RGD:9999431 NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:153,082,369...153,084,453 		JBrowse link
G Smad3 SMAD family member 3 treatment IEP RGD PMID:28501981 RGD:597830147 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smo smoothened, frizzled class receptor treatment IEP RGD PMID:25821409 RGD:12879456 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 IEP mRNA:increased expression:mononuclear cell RGD PMID:16507131 RGD:1625684 NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,193,537...103,197,787 		JBrowse link
G Spn sialophorin IMP associated with Staphylococcal Infections RGD PMID:7927732 RGD:2303983 NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 IDA
ISO		 protein:increased tyrosine phosphorylation:macrophage, synovial cell
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15188379 PMID:14674010 RGD:1582346 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15188379 PMID:21937456 PMID:23711144 RGD:10403081 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9259450 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP RGD PMID:29763498 RGD:15036801 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 IEP protein:increased expression:synovium RGD PMID:9010265 RGD:1601623 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:16879225 RGD:5685015 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IMP RGD PMID:12483743 RGD:2290463 NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:148,304,490...148,312,558 		JBrowse link
G Tjp1 tight junction protein 1 IEP RGD PMID:18848892 RGD:2325138 NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP
ISO		 RGD PMID:21725847 PMID:32945496 PMID:30841475 PMID:32186105 PMID:20131263 RGD:7241099, RGD:597538522, RGD:597538518, RGD:597538503, RGD:8552884 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 IEP
IMP		 mRNA, protein:increased expression:spleen (rat) RGD PMID:20500834 PMID:20500834 RGD:5128706, RGD:5128706 NCBI chr16:53,554,916...53,572,321
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr4 toll-like receptor 4 treatment IEP RGD PMID:30841475 RGD:597538518 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor treatment IDA
IEP
ISO		 CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:		 CTD
RGD		 PMID:7589090 PMID:9598899 PMID:19203382 PMID:19330884 PMID:19765281 More... RGD:7245941, RGD:13792834, RGD:10755447, RGD:10450611, RGD:8662976, RGD:8661761, RGD:7193038 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment IEP
ISO		 mRNA:decreased expression:bone
Sinomenine CHEBI:9163
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:23333834 PMID:16696922 PMID:24066131 RGD:1624171, RGD:42721982 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment IDA
IEP
ISO		 RGD PMID:23052485 PMID:21690068 PMID:20370892 RGD:7245941, RGD:8661761, RGD:8661729 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B treatment ISO
IEP
IDA		 human protein in rat model RGD PMID:21463515 PMID:21690068 PMID:23052485 RGD:5131255, RGD:8661761, RGD:7245941 NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Trpv2 transient receptor potential cation channel, subfamily V, member 2 treatment ISO RGD PMID:25869297 RGD:9999444 NCBI chr10:47,772,223...47,797,956
Ensembl chr10:47,272,931...47,294,260 		JBrowse link
G Txndc5 thioredoxin domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chr17:26,495,467...26,523,608
Ensembl chr17:26,289,880...26,318,025 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9598899 PMID:26221077 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vim vimentin IDA RGD PMID:7516431 RGD:6480480 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vip vasoactive intestinal peptide ISO
IDA		 RGD PMID:21998117 PMID:19055696 RGD:5685376, RGD:5685612 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
G Xdh xanthine dehydrogenase IEP protein:increased expression:brain, mitochondrion RGD PMID:25870945 RGD:13208957 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xylt1 xylosyltransferase 1 IEP mRNA:decreased expression:articular cartilage RGD PMID:19001053 RGD:2313142 NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
fetal akinesia deformation sequence syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence ClinVar PMID:25741868 PMID:33060286 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 More... NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2567381 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680 		JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chr 6:137,500,549...137,523,087
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:40,560,373...40,586,711
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Arfgap2 ARF GTPase activating protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 PMID:35338657 NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr13:53,625,584...53,674,489
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:97,640,923...97,667,617
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:186,025,740...186,057,165
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 More... NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr11:22,181,194...22,446,640
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:80,230,699...80,305,292
Ensembl chr14:76,006,218...76,080,693 		JBrowse link
G Hgfac HGF activator ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:80,070,456...80,219,668
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593 		JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:97,570,141...97,613,688
Ensembl chr 3:77,114,314...77,157,701 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377 		JBrowse link
G Msantd1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: MUSK-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:97,614,616...97,632,053
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:31680123 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:126,518,587...126,614,581
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder		 ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:2567381 PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:119,886,129...120,433,465
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:74,465,616...74,827,455
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532 NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:78,782,596...79,702,265
Ensembl chr 9:71,332,992...72,252,708 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:97,529,509...97,548,204
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
G Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 5:72,811,200...72,988,185
Ensembl chr 5:72,811,410...72,988,525 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:27,529,977...27,554,980
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Txn1 thioredoxin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 5:77,507,455...77,519,685
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Txndc8 thioredoxin domain containing 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 5:72,749,708...72,785,858
Ensembl chr 5:72,749,725...72,785,931 		JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 5:162,113,732...162,339,121
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 OMIM
ClinVar		 PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 ClinVar PMID:25741868 NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: DOK7-related condition | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 OMIM
ClinVar		 PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 | ClinVar Annotator: match by term: NUP88-related condition OMIM
ClinVar		 PMID:25741868 PMID:30543681 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 | ClinVar Annotator: match by term: NUP88-related condition ClinVar PMID:25741868 NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973 		JBrowse link
Frank-Ter Haar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism
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: SH3PXD2B-related condition		 OMIM
CTD
ClinVar		 PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 More... NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16642020 PMID:17576681 PMID:18414213 More... NCBI chr10:52,269,185...52,293,000
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
gout term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor ISO DNA:SNP: :rs10821905 (human) RGD PMID:28679452 PMID:28252667 RGD:13831119, RGD:13831120 NCBI chr 1:239,149,436...239,242,460
Ensembl chr 1:229,736,106...229,824,354 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO 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 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131 		JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:216,128,825...216,247,157 		JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gout ClinVar PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Hp haptoglobin ISO RGD PMID:7281841 RGD:1626362 NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Slc17a3 solute carrier family 17 member 3 susceptibility ISO ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4 ClinVar
OMIM		 PMID:20810651 NCBI chr17:41,270,804...41,300,132
Ensembl chr17:41,270,812...41,295,256 		JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Gouty Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
Hand Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:SNPs:exons: (rs2077647, rs1801132) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Il4 interleukin 4 no_association ISO DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
hemarthrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Hemophilia A;protein:increased expression:synovial fluid (mouse) RGD PMID:19444976 RGD:11528538 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G F8 coagulation factor VIII treatment IMP RGD PMID:31899798 RGD:150520060 NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:31899798 RGD:150520060
G F8em1Mcwi coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi treatment IMP RGD PMID:31899798 RGD:150520060
G Il6 interleukin 6 treatment ISO associated with Hemophilia A RGD PMID:23413986 RGD:11060150 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		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 IMP RGD PMID:27060449 RGD:150520059 NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F8em1Sage coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage treatment IMP RGD PMID:27060449 RGD:150520059
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition		 OMIM
CTD
ClinVar		 PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 NCBI chr 8:98,150,925...98,195,646
Ensembl chr 8:89,270,696...89,314,881 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:50,045,668...50,115,903
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Cdrt4 CMT1A duplicated region transcript 4 ISO 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 chr10:47,625,470...47,657,493
Ensembl chr10:47,625,470...47,657,493 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO 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 chr10:49,130,209...49,242,009
Ensembl chr10:48,630,676...48,746,667 		JBrowse link
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 ISO 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 chr10:48,561,473...48,593,970
Ensembl chr10:48,561,473...48,593,970 		JBrowse link
G Kap kidney androgen regulated protein ISO 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 chr 4:166,674,595...166,677,639
Ensembl chr 4:166,674,595...166,677,639 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:16288874 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS		 ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy
OMIM:162500
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7649472 PMID:7825607 PMID:8012388 PMID:8252046 PMID:8422677 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
G Ralgdsl6 ral guanine nucleotide dissociation stimulator like 6 ISO 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 chr16:11,203,355...11,209,558
Ensembl chr16:11,122,718...11,158,623 		JBrowse link
G Tekt3 tektin 3 ISO 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 chr10:48,228,859...48,262,812
Ensembl chr10:47,729,635...47,763,588 		JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: ERLIN2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
Hip Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hip contracture ClinVar PMID:17561957 PMID:30311386 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr20:29,191,086...29,228,299
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131 		JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431 		JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chr  X:137,655,744...137,687,718
Ensembl chr  X:132,736,096...132,768,154 		JBrowse link
G Mir106a microRNA 106a ISO 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:137,343,570...137,343,647
Ensembl chr  X:132,422,584...132,422,661 		JBrowse link
G Mir19b2 microRNA 19b-2 ISO 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:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis ClinVar PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:28454995 More... NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		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 ISO OMIM NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:157,198,872...157,328,325 		JBrowse link
Joint Instability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Joint laxity ClinVar NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:9887340 NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:26392352 PMID:28492532 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Joint laxity ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:152,032,330...152,046,707
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Zfp469 zinc finger protein 469 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joint hypermobility		 CTD
ClinVar		 PMID:18452888 PMID:25741868 NCBI chr19:50,282,337...50,324,010 JBrowse link
JOINT LAXITY, SHORT STATURE, AND MYOPIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia OMIM
ClinVar		 PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841 NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223 		JBrowse link
Juvenile Pauciarticular Chronic Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*1104, HLA-DRB1*080(human) RGD PMID:7955632 RGD:7365102 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
juvenile rheumatoid arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp3 acid phosphatase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:113,784,372...113,833,033
Ensembl chr 8:104,905,586...104,954,236 		JBrowse link
G Acrbp acrosin binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:159,537,395...159,550,454
Ensembl chr 4:157,841,841...157,864,213 		JBrowse link
G Adcy7 adenylate cyclase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:34,913,154...34,972,366
Ensembl chr19:18,740,875...18,776,311 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Ankrd9 ankyrin repeat domain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:135,827,355...135,830,002
Ensembl chr 6:129,998,486...130,008,923 		JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:1,817,001...2,133,008
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Aqp9 aquaporin 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:80,678,027...80,718,273
Ensembl chr 8:71,797,234...71,837,395 		JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:17,256,384...17,265,641
Ensembl chr14:16,972,187...16,981,535 		JBrowse link
G Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:97,675,354...97,982,523
Ensembl chr 7:95,787,818...96,092,754 		JBrowse link
G Avl9 AVL9 cell migration associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:87,291,062...87,338,537
Ensembl chr 4:85,961,635...86,008,791 		JBrowse link
G B4galt5 beta-1,4-galactosyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:176,437,073...176,453,001
Ensembl chr 3:156,018,053...156,070,074 		JBrowse link
G Bend2 BEN domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:36,997,518...37,093,363 JBrowse link
G Bltp3b bridge-like lipid transfer protein family member 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:26,068,948...26,149,033
Ensembl chr 7:24,181,644...24,261,720 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:33,228,149...33,230,406
Ensembl chr 7:31,341,027...31,343,649 		JBrowse link
G Btg3 BTG anti-proliferation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:30,517,068...30,532,981
Ensembl chr11:17,030,160...17,046,170 		JBrowse link
G C8b complement C8 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:7980680 NCBI chr 5:124,763,974...124,801,522
Ensembl chr 5:119,535,146...119,572,565 		JBrowse link
G C9h2orf88 similar to human chromosome 2 open reading frame 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:56,037,234...56,076,793
Ensembl chr 9:48,568,409...48,584,831 		JBrowse link
G Cald1 caldesmon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:29,144,318...29,206,382
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Ccdc122 coiled-coil domain containing 122 ISO ClinVar Annotator: match by term: JUVENILE ARTHRITIS ClinVar PMID:25741868 NCBI chr15:58,816,927...58,899,200
Ensembl chr15:52,407,717...52,470,163 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
DNA:polymorphisms: :multiple (human)		 RGD PMID:17565662 PMID:16775617 RGD:1626283, RGD:1626284 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd83 CD83 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:21,093,281...21,113,223
Ensembl chr17:20,887,309...20,907,083 		JBrowse link
G Cd8b CD8 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:104,870,911...104,886,838
Ensembl chr 4:103,312,578...103,328,553 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator susceptibility
no_association		 ISO DNA:polymorphism:exon:1614G>C (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)		 RGD PMID:17661914 PMID:16426246 RGD:5491187, RGD:5491189 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:647,273...667,683
Ensembl chr19:640,824...651,939 		JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:58,932,011...59,001,160
Ensembl chr17:54,239,030...54,305,989 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum RGD PMID:22885951 RGD:6906884 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cttn cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:209,029,048...209,064,577
Ensembl chr 1:199,599,710...199,635,164 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 PMID:26387944 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:17,184,853...17,187,646 JBrowse link
G Dusp2 dual specificity phosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:135,009,636...135,011,821
Ensembl chr 3:114,556,325...114,558,499 		JBrowse link
G Dusp4 dual specificity phosphatase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:64,079,893...64,101,396
Ensembl chr16:57,377,229...57,398,138 		JBrowse link
G Dysf dysferlin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Elf2 E74 like ETS transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:137,445,787...137,536,512
Ensembl chr 2:135,294,906...135,385,947 		JBrowse link
G Etnk1 ethanolamine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:177,857,001...177,901,278
Ensembl chr 4:176,126,180...176,193,770 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:168,580,405...168,819,817
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:95,136,799...95,197,176
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G Faxdc2 fatty acid hydroxylase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:42,747,323...42,772,156
Ensembl chr10:42,246,868...42,271,871 		JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:164,775,916...165,097,391
Ensembl chr 1:155,444,460...155,685,539 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:88,082,324...88,089,506
Ensembl chr 1:78,954,115...78,961,465 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Foxp1 forkhead box P1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Gadd45a growth arrest and DNA-damage-inducible, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:97,484,497...97,486,799
Ensembl chr 4:96,154,789...96,157,115 		JBrowse link
G Gmpr guanosine monophosphate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:19,357,992...19,395,807
Ensembl chr17:19,151,815...19,189,621 		JBrowse link
G Gng11 G protein subunit gamma 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:32,977,681...32,983,121
Ensembl chr 4:32,023,003...32,028,442 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:95,882,561...95,883,738
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:18328165 RGD:5490992 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G H2bc8 H2B clustered histone 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:47,404,405...47,405,155 JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:28,380,337...28,390,220
Ensembl chr18:28,105,760...28,116,441 		JBrowse link
G Herpud2 HERPUD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:31,849,216...31,894,219
Ensembl chr 8:23,573,379...23,617,874 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation:cds:p.C282Y (human) RGD PMID:16047841 RGD:8694357 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hist1h2af histone cluster 1 H2A family member F ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:41,807,261...41,807,653
Ensembl chr17:41,379,404...41,379,796 		JBrowse link
G Hspa6l-ps1 heat shock protein family A (Hsp70) member 6 like, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr13:85,805,911...85,807,052 JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum,synovial fluid: RGD PMID:8255671 RGD:12910480 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO protein:increased expression:mononuclear cell RGD PMID:21859687 RGD:5147870 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:9489833 RGD:7829742 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:87,908,697...87,926,225
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:80,333,588...80,449,373
Ensembl chr11:66,829,285...66,944,472 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,332,147...21,463,122 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kcnj15 potassium inwardly-rectifying channel, subfamily J, member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:48,046,953...48,091,285
Ensembl chr11:34,577,363...34,621,952 		JBrowse link
G Klf4 KLF transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:75,074,107...75,079,182
Ensembl chr 5:70,278,972...70,283,602 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Lacc1 laccase domain containing 1 ISO ClinVar Annotator: match by term: JUVENILE ARTHRITIS OMIM
ClinVar		 PMID:25147203 PMID:25220867 PMID:25741868 PMID:27881174 PMID:29717096 More... NCBI chr15:58,799,477...58,816,840
Ensembl chr15:52,395,183...52,407,545 		JBrowse link
G Lilra5 leukocyte immunoglobulin like receptor A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:79,011,865...79,073,860
Ensembl chr 1:69,973,292...70,001,718 		JBrowse link
G Lpp LIM domain containing preferred translocation partner in lipoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:89,292,060...89,933,973
Ensembl chr11:75,797,078...76,422,597 		JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:19,434,782...19,744,574
Ensembl chr12:14,320,892...14,630,703 		JBrowse link
G Maff MAF bZIP transcription factor F ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:112,792,787...112,804,139
Ensembl chr 7:110,912,499...110,923,851 		JBrowse link
G Maml2 mastermind-like transcriptional coactivator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:18,552,480...18,869,923
Ensembl chr 8:10,268,665...10,587,107 		JBrowse link
G Map2 microtubule-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO RGD PMID:18334024 RGD:12910845 NCBI chr 1:237,429,873...237,465,567 JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:69,442,850...69,463,843
Ensembl chr18:67,166,718...67,188,595 		JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:217,495,704...217,510,019
Ensembl chr 1:208,046,971...208,085,119 		JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:65,005,546...65,073,512
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:92,378,228...92,517,444
Ensembl chr 7:90,488,754...90,627,968 		JBrowse link
G Myzap myocardial zonula adherens protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:81,036,599...81,123,933
Ensembl chr 8:72,131,530...72,243,036 		JBrowse link
G Ndel1 nudE neurodevelopment protein 1-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:54,001,435...54,080,909
Ensembl chr10:53,516,491...53,570,907 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:62,098,739...62,115,926
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:67,157,141...67,198,287
Ensembl chr 5:62,361,822...62,402,733 		JBrowse link
G Nrg1 neuregulin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:164,612,460...164,635,082
Ensembl chr 4:162,926,439...162,948,523 		JBrowse link
G Osm oncostatin M ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:83,327,202...83,332,073
Ensembl chr14:79,104,344...79,108,313 		JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:116,385,571...116,478,609
Ensembl chr 7:114,505,152...114,598,546 		JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr  X:62,371,934...62,465,460
Ensembl chr  X:58,378,116...58,468,935 		JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431 		JBrowse link
G Pgm5 phosphoglucomutase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:231,752,052...231,939,812
Ensembl chr 1:222,325,643...222,513,437 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Plk2 polo-like kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:43,702,536...43,708,305
Ensembl chr 2:41,969,176...41,974,947 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO DNA: snp : cds : rs2476601 RGD PMID:15934099 RGD:6484550 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:65,097,685...65,225,863
Ensembl chr 7:63,232,346...63,340,540 		JBrowse link
G Rasgef1b RasGEF domain family, member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:10,164,366...10,684,184
Ensembl chr14:9,860,247...10,379,741 		JBrowse link
G Rbm47 RNA binding motif protein 47 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr14:42,407,226...42,545,304
Ensembl chr14:42,154,142...42,189,431 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:166,048,770...166,380,559
Ensembl chr 5:160,765,934...161,097,677 		JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 5:54,562,570...54,587,649
Ensembl chr 5:49,766,325...49,791,408 		JBrowse link
G Rhobtb1 Rho-related BTB domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:19,326,197...19,455,182
Ensembl chr20:19,327,155...19,403,012 		JBrowse link
G Rnf103 ring finger protein 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:105,084,762...105,100,839
Ensembl chr 4:103,526,502...103,555,919 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:19811310 PMID:10457895 RGD:5147815, RGD:5147863 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:10457895 RGD:5147863 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:19908388 PMID:10457895 RGD:5147587, RGD:5147863 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Selp selectin P severity ISO protein:increased expression:plasma RGD PMID:21124648 RGD:6219006 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO RGD PMID:15129233 RGD:2298870 NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Sh3bgrl2 SH3 domain binding glutamate-rich protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:93,341,104...93,433,143
Ensembl chr 8:84,461,121...84,551,564 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:9,947,104...9,958,729
Ensembl chr20:9,947,396...9,958,991 		JBrowse link
G Sipa1l1 signal-induced proliferation-associated 1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:107,570,569...107,849,613
Ensembl chr 6:101,839,404...102,116,950 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16597321 PMID:10857800 RGD:5684977 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc22a16 solute carrier family 22 member 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:45,527,275...45,647,675
Ensembl chr20:43,972,836...44,065,019 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:SNPs: : RGD PMID:17393463 RGD:13208931 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Stab1 stabilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:6,336,871...6,367,374
Ensembl chr16:6,330,444...6,360,923 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967 		JBrowse link
G Tfdp1 transcription factor Dp-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr16:82,864,220...82,903,166
Ensembl chr16:76,162,043...76,200,817 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:15209962 RGD:5685023 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Tnfaip6 TNF alpha induced protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 3:56,911,398...56,930,797
Ensembl chr 3:36,502,188...36,521,649 		JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr18:45,370,334...45,486,036
Ensembl chr18:43,183,916...43,299,517 		JBrowse link
G Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 1:208,269,844...208,285,823
Ensembl chr 1:198,840,453...198,856,309 		JBrowse link
G Tnik TRAF2 and NCK interacting kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 2:113,112,937...113,511,341
Ensembl chr 2:111,184,387...111,580,750 		JBrowse link
G Treml1 triggering receptor expressed on myeloid cells-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 9:20,133,193...20,139,933
Ensembl chr 9:12,635,590...12,642,347 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:105,483,191...105,700,934 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,747,503...30,800,714 		JBrowse link
G Ube2e1 ubiquitin-conjugating enzyme E2E 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr15:9,870,528...9,924,194
Ensembl chr15:7,439,759...7,493,400 		JBrowse link
G Ube3c ubiquitin protein ligase E3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 4:6,323,831...6,425,085
Ensembl chr 4:5,648,690...5,750,011 		JBrowse link
G Wasf3 WASP family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr12:13,675,642...13,774,648
Ensembl chr12:8,562,062...8,660,751 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391 		JBrowse link
G Zfand3 zinc finger AN1-type containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr20:8,084,898...8,281,093
Ensembl chr20:8,082,200...8,279,616 		JBrowse link
G Zfc3h1 zinc finger, C3H1-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:19565504 NCBI chr 7:52,894,417...52,950,755
Ensembl chr 7:51,007,984...51,064,661 		JBrowse link
Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome ClinVar PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome		 OMIM
CTD
ClinVar		 PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia		 OMIM
CTD
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
Knee Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa2 annexin A2 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Anxa5 annexin A5 disease_progression ISO protein:increased expression:chondrocyte: RGD PMID:10903884 RGD:10053727 NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Ar androgen receptor ISO DNA:repeat:exon:c.172(CAG)8-34 (human) RGD PMID:16098017 RGD:10043199 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Aspn asporin severity ISO mRNA:increased expression:cartilage:
DNA:repeats:exon:		 RGD PMID:15640800 PMID:15640800 RGD:9684965, RGD:9684965 NCBI chr17:15,286,338...15,310,567
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:serum RGD PMID:18795399 RGD:6482710 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:20131282 RGD:6907382 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO
IDA		 RGD PMID:22294259 PMID:21387139 RGD:6483563, RGD:6483595 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		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 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd36 CD36 molecule disease_progression ISO
IEP		 RGD PMID:21765106 PMID:19342682 RGD:6893494, RGD:6893565 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Ctnnb1 catenin beta 1 IEP protein:increased expression:cartilage: RGD PMID:22702043 RGD:10395278 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO DNA:SNP:intron, 5' utr: (rs1062033) (human) RGD PMID:20417295 RGD:10045662 NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates IEP RGD PMID:31258642 RGD:150519887 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dgat2 diacylglycerol O-acyltransferase 2 severity ISO mRNA,protein:increased expression:fat pad: RGD PMID:21765106 RGD:6893494 NCBI chr 1:162,866,237...162,896,655
Ensembl chr 1:153,454,080...153,484,428 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 IMP RGD PMID:20131282 RGD:6907382 NCBI chr 1:237,794,969...237,798,650
Ensembl chr 1:228,381,521...228,385,202 		JBrowse link
G Eef1a1 eukaryotic translation elongation factor 1 alpha 1 IEP RGD PMID:25435813 RGD:13506963 NCBI chr 8:88,221,839...88,225,688
Ensembl chr 8:79,341,557...79,344,839 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:serum: RGD PMID:22275171 RGD:10401792 NCBI chr14:106,811,769...106,890,961
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Epas1 endothelial PAS domain protein 1 no_association ISO DNA:SNP:5' utr: (rs17039192) (human) RGD PMID:22247019 PMID:20495570 RGD:10395367, RGD:10395368 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:25422652 RGD:10400892 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Esr1 estrogen receptor 1 ISO 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 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:repeat:intron:c.1092+3607(CA)13-27 (human) RGD PMID:16098017 RGD:10043199 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin ISO RGD PMID:21041276 RGD:5147774 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 treatment ISO RGD PMID:27159076 RGD:11568056 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased expression:synovial fluid RGD PMID:16289733 RGD:10401830 NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Hmgb1 high mobility group box 1 severity ISO protein:increased expression:synovial fluid
mRNA:decreased expression:articular cartilage		 RGD PMID:21968272 PMID:19139395 RGD:10402061, RGD:10402184 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmgb2 high mobility group box 2 severity ISO mRNA:decreased expression:articular cartilage RGD PMID:19139395 PMID:19139395 RGD:10402184, RGD:10402184 NCBI chr16:37,721,374...37,723,950
Ensembl chr16:32,710,658...32,713,140
Ensembl chr 1:32,710,658...32,713,140 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:increased expression:tibial plateaux (mouse)
mRNA:decreased expression:blood (human)		 RGD PMID:9497939 PMID:16139532 RGD:10412655, RGD:10429075 NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression
severity		 ISO
IEP		 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 chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:8948288 RGD:10045874 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Il1a interleukin 1 alpha IEP
ISO		 protein:increased expression:cartilage cell: RGD PMID:24534736 PMID:9497937 PMID:9034998 RGD:10045944, RGD:10046057, RGD:10045946 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il2 interleukin 2 severity ISO protein:increased expression:synovial fluid: RGD PMID:22035391 RGD:5687147 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 susceptibility IDA
ISO		 DNA:repeat:intron: (rs8179190) (human) RGD PMID:18182309 PMID:24406619 RGD:2317291, RGD:10402787 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Kl Klotho susceptibility ISO DNA:SNPs:promoter,exon:395G>A,2998C>T(human) RGD PMID:18465812 RGD:10403041 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Lep leptin ISO protein:decreased expression:serum: RGD PMID:23575542 RGD:10411887 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor susceptibility ISO protein:increased expression:serum:
DNA:SNP:cds:668A>G(human)		 RGD PMID:23575542 PMID:23575542 RGD:10411887, RGD:10411887 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 susceptibility ISO DNA:snp:promoter:g.-2820G>A (rs10980705) (human) RGD PMID:18325907 RGD:10054291 NCBI chr 5:78,024,139...78,147,071
Ensembl chr 5:73,229,625...73,369,895 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:25,781,625...26,177,346
Ensembl chr 6:20,029,629...20,425,349 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO CTD Direct Evidence: therapeutic CTD PMID:35962723 NCBI chr20:4,831,580...4,831,689
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Mir223 microRNA 223 IEP RNA:increased expression:synovial membrane RGD PMID:30106113 RGD:25824950 NCBI chr  X:65,151,383...65,151,492
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Mmp1 matrix metallopeptidase 1 treatment IEP RGD PMID:21167838 RGD:8549737 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ameliorates IEP RGD PMID:31258642 RGD:150519887 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IMP RGD PMID:22114772 RGD:8694098 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Penk proenkephalin treatment IEP RGD PMID:21928671 RGD:10003115 NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Ptges prostaglandin E synthase IEP RGD PMID:17530714 RGD:2300093 NCBI chr 3:34,575,643...34,586,987 JBrowse link
G Sbno1 strawberry notch homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr12:37,835,306...37,895,861
Ensembl chr12:32,185,485...32,230,158 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 susceptibility ISO DNA:deletion:promoter:-716_-713del4A(human) RGD PMID:11558903 RGD:13208866 NCBI chr18:56,918,662...56,937,032
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Tgfa transforming growth factor alpha IEP protein:increased expression:cartilage RGD PMID:17968906 RGD:2317486 NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Wwp2 WW domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr19:52,256,563...52,380,967
Ensembl chr19:35,346,814...35,472,699 		JBrowse link
lethal congenital contracture syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome ClinVar PMID:25741868 NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
lethal congenital contracture syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7770128 PMID:9536098 PMID:16199547 PMID:16892327 PMID:17576681 More... NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
Lethal Congenital Contracture Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:26908619 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldn gliomedin ISO ClinVar Annotator: match by term: GLDN-related condition | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:27616481 PMID:28492532 PMID:28726266 PMID:31680123 More... NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 | ClinVar Annotator: match by term: Multiple contracture syndrome, Israeli Bedouin type		 CTD
OMIM
ClinVar		 PMID:17701904 PMID:25741868 PMID:31752936 PMID:33935161 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17701898 PMID:25741868 PMID:28492532 PMID:37451268 PMID:38491417 NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988 		JBrowse link
lethal congenital contracture syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 | ClinVar Annotator: match by term: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome OMIM
ClinVar		 PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 OMIM
ClinVar		 PMID:18414213 PMID:23092955 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 | ClinVar Annotator: match by term: ZBTB42-related condition OMIM
ClinVar		 PMID:25055871 PMID:25741868 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		JBrowse link
Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 OMIM
ClinVar		 PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 More... NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy6 adenylate cyclase 6 ISO ClinVar Annotator: match by term: ADCY6-related condition | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chr 7:131,621,860...131,642,923
Ensembl chr 7:129,742,838...129,763,754 		JBrowse link
G Spmip11 sperm microtubule inner protein 11 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr 7:131,599,977...131,621,508
Ensembl chr 7:129,720,950...129,742,485 		JBrowse link
Lethal Congenital Contracture Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: ADGRG6-related condition | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:26004201 PMID:26752647 PMID:28492532 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
Marden-Walker Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24726473 PMID:25741868 PMID:28492532 PMID:30988732 PMID:31589614 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:22578647 RGD:9491592 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		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 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,187,995...95,205,127
Ensembl chr 9:87,753,648...87,757,836 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,221,314...95,224,780
Ensembl chr 9:87,773,411...87,776,877 		JBrowse link
G Alpp alkaline phosphatase, placental ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,213,763...95,216,509
Ensembl chr 9:87,765,860...87,768,606 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 9:95,310,316...95,318,734
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 More... NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,267,417...95,276,508
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:32,210,074...32,253,309 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)		 ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Nog noggin ISO 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 chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		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 chr 1:244,864,168...244,890,007
Ensembl chr 1:244,877,173...244,890,013 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:161200
ClinVar Annotator: match by term: LMX1B-related condition | ClinVar Annotator: match by term: Nail-patella syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:9590287 PMID:9618165 PMID:9837817 PMID:10425280 More... RGD:1599750, RGD:1599751 NCBI chr 3:37,257,025...37,338,675
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Mvb12b multivesicular body subunit 12B ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 3:17,034,002...17,192,658
Ensembl chr 3:17,034,003...17,193,202 		JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Nail-patella syndrome ClinVar PMID:18414507 NCBI chr 3:16,744,535...16,763,854
Ensembl chr 3:16,744,535...16,763,909 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 PMID:34837432 NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chr10:6,136,458...6,560,003
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 2:40,101,548...40,164,780
Ensembl chr 2:38,367,998...38,431,508 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr10:60,031,441...60,090,259
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:26704558 PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:22228622 PMID:22729224 PMID:22949682 PMID:25326635 PMID:25326637 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:31904124 PMID:35701389 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31495489 PMID:37880672 NCBI chr11:83,362,534...83,386,257
Ensembl chr11:83,362,534...83,386,250 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,747,503...30,800,714 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chr19:68,365,687...68,374,741
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		JBrowse link
neurogenic-type arthrogryposis multiplex congenita-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type | ClinVar Annotator: match by term: ERGIC1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5491443 PMID:25741868 PMID:28317099 NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type ClinVar PMID:25741868 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Mental retardation unusual facies hypothyroidism | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson syndrome | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... RGD:9588484 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094 		JBrowse link
osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr18:70,620,310...70,648,417
Ensembl chr18:68,345,012...68,373,249 		JBrowse link
G Acan aggrecan treatment ISO
IEP		 RGD PMID:22833446 PMID:21853458 RGD:11570535, RGD:11570544 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Aco1 aconitase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:60,055,895...60,111,920
Ensembl chr 5:55,259,827...55,316,391 		JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:16,776,664...16,779,634
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Adam12 ADAM metallopeptidase domain 12 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 1:198,116,968...198,443,680
Ensembl chr 1:188,686,989...189,020,667 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO RGD PMID:15818704 RGD:1559176 NCBI chr 2:177,052,363...177,062,879
Ensembl chr 2:174,754,633...174,765,113 		JBrowse link
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 ISO DNA:missense mutation:cds: (rs4747096) (human) RGD PMID:18790654 RGD:6771189 NCBI chr20:29,685,876...29,762,685
Ensembl chr20:29,144,354...29,219,866 		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 chr13:86,203,011...86,212,500
Ensembl chr13:83,670,183...83,680,065 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 treatment
disease_progression
no_association		 ISO
IEP
IMP		 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 chr11:38,486,945...38,533,516
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr  X:38,106,067...38,231,286
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16948116 PMID:23894457 RGD:8695985 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Ak4 adenylate kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:121,154,565...121,214,403
Ensembl chr 5:116,039,616...116,098,618 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:70,720,397...70,747,285
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr17:70,669,684...70,717,935
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24728293 NCBI chr 8:80,758,641...80,837,891
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Aspn asporin no_association ISO DNA:repeats:exon:
CTD Direct Evidence: marker/mechanism		 OMIM
CTD
RGD		 PMID:16542493 RGD:9684966 NCBI chr17:15,286,338...15,310,567
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr16:25,384,254...25,408,388
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
G Atp7a ATPase copper transporting alpha ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Bad BCL2-associated agonist of cell death ISO RGD PMID:19217321 RGD:10053643 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Bag6 BAG cochaperone 6 susceptibility ISO DNA:SNP: :rs3117582(human) RGD PMID:25231575 RGD:14390133 NCBI chr20:3,680,607...3,693,329
Ensembl chr20:3,675,938...3,688,657 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO protein:increased expression:chondrocyte RGD PMID:19217321 PMID:16864079 RGD:10053643, RGD:10054095 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:cartilage RGD PMID:20187128 PMID:20187128 RGD:6483317, RGD:6483317 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein disease_progression ISO RGD PMID:20157712 RGD:6483599 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788 		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 chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16690336 NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29138829 RGD:13782343 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:29138829 RGD:13782343 Ensembl chr 5:154,109,046...154,126,626 JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:16508959 RGD:10043354 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO protein:increased expression:synovial membrane: RGD PMID:19942450 RGD:10054497 NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Cd36 CD36 molecule susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment IEP RGD PMID:24009074 RGD:10043190 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta susceptibility ISO RGD PMID:22095691 RGD:10401214 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Cilp cartilage intermediate layer protein disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:74,671,696...74,687,420
Ensembl chr 8:65,777,281...65,792,251 		JBrowse link
G Clec3b C-type lectin domain family 3, member B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 8:131,687,575...131,693,292
Ensembl chr 8:122,810,149...122,815,835 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:3,769,522...3,778,367
Ensembl chr20:3,761,461...3,773,712 		JBrowse link
G Clic4 chloride intracellular channel 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:152,737,371...152,797,118
Ensembl chr 5:147,453,712...147,513,452 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 PMID:18784066 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		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 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association ISO DNA:SNP:intron:IVS1 RGD PMID:10743824 RGD:5688331 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col2a1 collagen type II alpha 1 chain onset
treatment		 ISO
IDA		 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 chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		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 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670472 NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 2:185,747,548...185,758,512
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:229,099,319...229,148,868
Ensembl chr 2:226,425,898...226,475,423 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:24938620 RGD:150429973 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Dpep1 dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr19:68,118,270...68,143,781
Ensembl chr19:51,219,660...51,235,257 		JBrowse link
G Dpysl2 dihydropyrimidinase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:45,181,041...45,287,065
Ensembl chr15:41,005,551...41,111,829 		JBrowse link
G Edil3 EGF like repeats and discoidin domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 2:21,625,604...22,140,380
Ensembl chr 2:19,890,373...20,405,008 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 IEP mRNA:increased expression:articular cartilage of joint (rat) RGD PMID:31396630 RGD:42722015 NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:10806043 RGD:1626498 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO 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 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228 		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 chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Erg ETS transcription factor ERG ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 MouseDO NCBI chr11:48,148,149...48,370,472
Ensembl chr11:34,678,618...34,845,871 		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 5:166,606,841...166,620,124
Ensembl chr 5:161,323,998...161,337,282 		JBrowse link
G Esd esterase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:56,453,082...56,472,582
Ensembl chr15:50,043,632...50,063,144 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNP:intron: (rs2234693) (human)
DNA:SNPs:introns: (rs2234693, rs9340799) (human)		 RGD PMID:20417295 PMID:19884274 RGD:10045662, RGD:10045830 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 ISO DNA:SNP:intron: (rs1256031) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:55,835,134...55,891,969 		JBrowse link
G Ezr ezrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:49,373,033...49,416,573
Ensembl chr 1:46,967,658...47,011,505 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8254199 RGD:5147984 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:18,210,240...18,241,929
Ensembl chr10:17,706,174...17,736,818 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22393163 RGD:10402075 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA:increased expression:trabecular bone: RGD PMID:15781004 RGD:10402109 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fn1 fibronectin 1 ISO protein:increased expression:cartilage: RGD PMID:8646429 RGD:10402156 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Frzb frizzled-related protein susceptibility ISO ClinVar Annotator: match by term: Osteoarthritis | ClinVar Annotator: match by term: Osteoarthritis susceptibility 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15210948 PMID:25741868 NCBI chr 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208 		JBrowse link
G Ftl1 ferritin light chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:105,072,858...105,074,705
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725
Ensembl chr 2:95,936,387...95,939,725 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO
ISS		 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 chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Gh1 growth hormone 1 ISO protein:increased expression:plasma RGD PMID:7152485 RGD:10003140 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghr growth hormone receptor ISO DNA:deletion:exon: RGD PMID:23740230 RGD:10003113 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gls glutaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:56,836,584...56,908,861
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
G Gstk1 glutathione S-transferase kappa 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:72,085,532...72,089,934
Ensembl chr 4:71,118,896...71,123,292 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:31,907,801...31,947,434
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO RGD PMID:22586168 RGD:10402054 NCBI chr 6:54,257,118...54,283,373
Ensembl chr 6:48,529,372...48,555,787 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 9:56,082,082...56,161,796
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 PMID:18789153 RGD:10395366, RGD:10402406 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmgb1 high mobility group box 1 ISO RGD PMID:22330250 RGD:10401949 NCBI chr12:11,009,236...11,015,941
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Ifna1 interferon, alpha 1 treatment IEP RGD PMID:30456844 RGD:36174218 NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor severity ISO mRNA:increased expression:articular cartilage of joint: RGD PMID:8609369 RGD:10045889 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cartilage RGD PMID:22527881 RGD:10402552 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:18775662 RGD:10402575 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO
IEP		 protein:increased expression:cartilage RGD PMID:24786088 PMID:24786088 RGD:12910979, RGD:12910979 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Il1a interleukin 1 alpha ISO protein:increased expression:chonodrocyte: RGD PMID:9497936 RGD:10047053 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta treatment IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21954917 PMID:37943572 PMID:22890185 RGD:7207218 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4r interleukin 4 receptor ISO protein:increased expression:serum RGD PMID:16647277 RGD:10402785 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22035391 RGD:5687147 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Immt inner membrane mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:105,438,657...105,477,370
Ensembl chr 4:103,880,459...103,919,109 		JBrowse link
G Ins2 insulin 2 ISO protein:increased expression:blood: RGD PMID:2290165 RGD:10045857 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Isoc2b isochorismatase domain containing 2b ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:78,001,735...78,022,565
Ensembl chr 1:68,972,960...68,993,757 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO RGD PMID:18354251 RGD:6482239 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Lep leptin severity ISO protein:increased expression:tibia, cartilage, chondrocyte (human) RGD PMID:14613274 RGD:10053634 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lgals3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34894372 NCBI chr15:23,099,795...23,111,731
Ensembl chr15:20,607,692...20,632,025 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Matn3 matrilin 3 ISO
ISS		 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 6:37,467,729...37,487,776
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
G Mir146a microRNA 146a ISO mRNA:decreased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610 		JBrowse link
G Mir34a microRNA 34a treatment ISO
IMP		 mRNA:increased expression:knee, hip (human) RGD PMID:30048987 PMID:30048987 RGD:152177909, RGD:152177909 NCBI chr 5:165,815,952...165,816,053
Ensembl chr 5:160,533,002...160,533,103 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO
IEP		 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 chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:synovial fluid (human) RGD PMID:15194590 RGD:7207131 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:synovial fluid (human) RGD PMID:16128596 PMID:15194590 RGD:7207089, RGD:7207131 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msn moesin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:65,005,546...65,073,512
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment ISO RGD PMID:24651621 PMID:22084394 RGD:10003163, RGD:10003165 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mvp major vault protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:191,025,259...191,052,866
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Myh13 myosin heavy chain 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:52,511,773...52,567,951
Ensembl chr10:52,009,425...52,068,951 		JBrowse link
G Myl3 myosin light chain 3 ISS MouseDO NCBI chr 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D IEP protein:increased expression:spinal cord RGD PMID:20722027 RGD:10412653 NCBI chr 4:14,251,591...14,291,010
Ensembl chr 4:13,361,006...13,398,748 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 susceptibility ISO RGD PMID:15334463 RGD:1625347 NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:201,299,985...201,305,466 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 treatment IEP RGD PMID:34738623 RGD:329328930 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Ngf nerve growth factor treatment IMP RGD PMID:33806315 PMID:25677108 RGD:402463969, RGD:402463970 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:79,394,999...79,400,418
Ensembl chr10:78,897,770...78,903,538
Ensembl chr20:78,897,770...78,903,538 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:157,646,243...157,662,035 		JBrowse link
G Pdcd6ip programmed cell death 6 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:122,469,223...122,524,993
Ensembl chr 8:113,590,998...113,646,773 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 IEP mRNA:increased expression:tibia (rat) RGD PMID:21864409 RGD:6771362 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Plcd1 phospholipase C, delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:127,672,955...127,695,939
Ensembl chr 8:118,795,201...118,818,186 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
G Pls3 plastin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:21378032 RGD:5508809 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pou3f3 POU class 3 homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 9:52,438,026...52,441,152
Ensembl chr 9:44,945,872...44,948,992 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:69,213,198...69,232,441
Ensembl chr 1:60,540,194...60,560,129 		JBrowse link
G Psmb1 proteasome 20S subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:65,115,770...65,136,516
Ensembl chr 1:56,420,618...56,463,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:SNP (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:32004530 PMID:15334463 RGD:1625347 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ran RAN, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr12:33,311,155...33,314,339
Ensembl chr12:27,674,050...27,678,276 		JBrowse link
G Rcn3 reticulocalbin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:104,700,969...104,710,228
Ensembl chr 1:95,564,380...95,573,725 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16948116 NCBI chr 2:178,388,529...178,390,838
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G Scrn1 secernin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 4:84,962,450...85,024,577
Ensembl chr 4:83,632,131...83,693,852 		JBrowse link
G Sdcbp syndecan binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 5:24,245,279...24,314,712
Ensembl chr 5:19,489,961...19,527,572 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sec23a Sec23 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:82,393,699...82,442,594
Ensembl chr 6:76,658,427...76,706,035 		JBrowse link
G Serpina1 serpin family A member 1 IEP RGD PMID:20434574 RGD:2324964 NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Sgcg sarcoglycan, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18973239 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Smad3 SMAD family member 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:21217753 PMID:22772368 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:18784066 PMID:22108257 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tent5a terminal nucleotidyltransferase 5A susceptibility ISO DNA:repeats: : RGD PMID:25231575 RGD:14390133 NCBI chr 8:95,102,349...95,109,100
Ensembl chr 8:86,225,357...86,229,045 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:32,936,462...32,941,385
Ensembl chr 4:31,982,178...31,986,600 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISS OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 MouseDO NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 3:167,192,612...167,221,845
Ensembl chr 3:146,772,687...146,801,981 		JBrowse link
G Tlr8 toll-like receptor 8 ISO ClinVar Annotator: match by term: Osteoarthritis ClinVar NCBI chr  X:30,708,714...30,733,104
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b IEP RGD PMID:14872496 RGD:2290500 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B disease_progression ISO RGD PMID:15334463 RGD:1625347 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfsf10 TNF superfamily member 10 IEP RGD PMID:14872496 RGD:2290500 NCBI chr 2:112,136,550...112,155,903
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tnfsf15 TNF superfamily member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr 5:82,150,376...82,171,743
Ensembl chr 5:77,139,878...77,156,228 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Trim2 tripartite motif-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:171,798,654...171,950,193
Ensembl chr 2:169,500,634...169,652,927 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21964574 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 7:22,717,620...22,802,553
Ensembl chr 7:20,830,045...20,907,863 		JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr15:2,512,214...2,526,105
Ensembl chr15:2,463,056...2,476,553 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16876394 PMID:18784066 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18784066 NCBI chr 6:46,664,358...46,694,875
Ensembl chr 6:40,935,949...40,966,273 		JBrowse link
Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		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 IEP RGD PMID:23589102 RGD:11561955 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:19404941 RGD:9068434 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp6 caspase 6 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 2:221,140,287...221,152,727
Ensembl chr 2:218,466,076...218,478,502 		JBrowse link
G Casp7 caspase 7 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:29621761 RGD:13782275 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:25128628 RGD:11041187 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 treatment IEP RGD PMID:25975052 RGD:150429975 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:22833219 RGD:10402072 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:23041435 RGD:10402106 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A treatment IMP RGD PMID:16394269 RGD:10402538 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 IEP mRNA:decreased expression:knee RGD PMID:24754147 RGD:10412054 NCBI chr14:79,876,002...79,888,011
Ensembl chr14:75,651,376...75,665,414 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 IEP RGD PMID:29364174 RGD:13800565 NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 IEP protein:decreased expression:skeletal joint RGD PMID:31742919 RGD:40924673 NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:28122611 RGD:27226703 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Ulk1 unc-51 like autophagy activating kinase 1 treatment IEP RGD PMID:23589102 RGD:11561955 NCBI chr12:51,511,492...51,537,746
Ensembl chr12:45,851,710...45,877,966 		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 IEP mRNA:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr11:38,486,945...38,533,516
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Aspn asporin ISO mRNA:increased expression:cartilage: RGD PMID:15640800 RGD:9684965 NCBI chr17:15,286,338...15,310,567
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Astn2 astrotactin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 5:83,772,988...84,759,439
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Chadl chondroadherin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 PMID:30374069 NCBI chr 7:115,085,447...115,097,565
Ensembl chr 7:113,210,748...113,217,272 		JBrowse link
G Col10a1 collagen type X alpha 1 chain IEP mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr20:39,737,536...39,744,518
Ensembl chr20:38,182,494...38,189,494 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain no_association
susceptibility		 ISO DNA:SNP:intron:g.2046G>T (human) RGD PMID:17187661 PMID:9811048 PMID:15880349 RGD:5688305, RGD:5688330, RGD:5688306 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28319091 NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:89,540,192...89,583,466
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr12:38,716,668...38,731,285
Ensembl chr12:33,055,263...33,070,387 		JBrowse link
G Esr1 estrogen receptor 1 ISO DNA:SNP:intron:g.-397T>C (human) RGD PMID:17419075 RGD:10045661 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 8:89,641,509...89,836,772
Ensembl chr 8:80,764,604...80,922,549 		JBrowse link
G Frzb frizzled-related protein ISO ClinVar Annotator: match by term: OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO ClinVar PMID:15210948 NCBI chr 3:85,739,162...85,772,168
Ensembl chr 3:65,332,277...65,365,208 		JBrowse link
G Ghr growth hormone receptor ISO associated with Acromegaly;DNA:deletion:exon: RGD PMID:19864451 RGD:10003142 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Hdac9 histone deacetylase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 6:56,489,472...57,351,654
Ensembl chr 6:50,763,590...51,625,333 		JBrowse link
G Hfe homeostatic iron regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Il11 interleukin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 PMID:30664745 NCBI chr 1:78,098,622...78,104,915
Ensembl chr 1:69,068,137...69,076,129 		JBrowse link
G Il4r interleukin 4 receptor susceptibility
no_association		 ISO DNA:SNPs:multiple
DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human)		 RGD PMID:14745651 PMID:19036616 RGD:10402782, RGD:10402784 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Itih1 inter-alpha trypsin inhibitor, heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr16:6,128,696...6,142,813
Ensembl chr16:6,122,248...6,136,363 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 3:37,257,025...37,338,675
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:30664745 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP mRNA, protein:increased expression:cartilage RGD PMID:22670655 RGD:10043109 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374069 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) RGD PMID:18312480 RGD:11041747 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		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 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318 		JBrowse link
G C8h15orf39 similar to human chromosome 15 open reading frame 39 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941 		JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370 		JBrowse link
G Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004 		JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181 		JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760 		JBrowse link
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,818,284...66,829,691
Ensembl chr 8:57,922,290...57,933,781 		JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297 		JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671 		JBrowse link
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:55,835,134...55,891,969 		JBrowse link
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906 		JBrowse link
G Fbxo22 F-box protein 22 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414 		JBrowse link
G Isl2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790 		JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130 		JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650 		JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681 		JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356 		JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690 		JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,843,802...66,852,108
Ensembl chr 8:57,947,893...57,956,150 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
G Nrg4 neuregulin 4 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483 		JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Ppcdc phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: PAPA SYNDROME
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9262226 PMID:9536098 PMID:11971877 PMID:14595024 PMID:15580218 More... NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952 		JBrowse link
G Rcn2 reticulocalbin 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251 		JBrowse link
G Rpp25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732 		JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:57,481,573...57,536,192 		JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912 		JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538 		JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Tmem266 transmembrane protein 266 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212 		JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344 		JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: PAPA SYNDROME ClinVar PMID:28492532 NCBI chr 8:66,888,820...66,895,380
Ensembl chr 8:57,992,723...57,999,467 		JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 More... NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis OMIM
ClinVar		 PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 More... NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
primary hypertrophic osteoarthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:18805827 PMID:19306095 More... NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pachydermoperiostosis syndrome		 CTD
ClinVar		 PMID:20083684 PMID:22197487 PMID:22331663 PMID:23509104 PMID:25741868 More... NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant | ClinVar Annotator: match by term: SLCO2A1-related condition OMIM
ClinVar		 PMID:16283874 PMID:22197487 PMID:22553128 PMID:22906430 PMID:23509104 More... NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM
ClinVar		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:19306095 PMID:19568269 More... NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:16283874 PMID:22197487 PMID:22331663 PMID:22553128 PMID:22696055 More... NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
progressive pseudorheumatoid arthropathy of childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn6 cellular communication network factor 6 ISO
ISS		 ClinVar Annotator: match by term: CCN6-related condition | 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 chr20:42,569,309...42,585,126
Ensembl chr20:42,569,309...42,585,126 		JBrowse link
proximal symphalangism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:28492532 NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr 1:215,160,764...215,172,540
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Gng3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar NCBI chr 1:215,160,952...215,162,718
Ensembl chr 1:205,731,837...205,733,603 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger ClinVar PMID:11938027 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25887915 More... NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Nog noggin ISO 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 chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
proximal symphalangism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Proximal symphalangism 1A OMIM
ClinVar		 PMID:7557985 PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
proximal symphalangism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism, proximal, 1B OMIM
ClinVar		 PMID:12121354 PMID:16014698 PMID:16127465 PMID:16532400 PMID:16892395 More... NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
psoriatic arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO protein:increased expression:serum RGD PMID:16936328 RGD:5683894 NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) RGD PMID:20153665 RGD:8661745 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cd68 Cd68 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Fbxl19 F-box and leucine-rich repeat protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr 1:182,356,899...182,380,839
Ensembl chr 1:182,360,830...182,380,083 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il13 interleukin 13 susceptibility ISO DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human
DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human)		 RGD PMID:21349879 PMID:19554022 RGD:8549517, RGD:8549552 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A severity
treatment		 ISO RGD PMID:24567524 PMID:23361084 RGD:8698658, RGD:9068444 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Lta lymphotoxin alpha treatment
susceptibility		 ISO 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 chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408446 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to ClinVar PMID:11385576 PMID:25741868 PMID:28492532 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953189 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732956 NCBI chr 3:62,098,739...62,115,926
Ensembl chr 3:41,689,851...41,697,877 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:22751595 RGD:6771221 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA: snp: cds: rs2476601
DNA:missense mutation: :R620W (rs2476601) (human)		 RGD PMID:21410964 PMID:15934099 RGD:6484592, RGD:6484550 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs744166 (human)
DNA:SNP: :rs2293152 (human)		 RGD PMID:23127549 PMID:23127549 RGD:8694309, RGD:8694309 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs10181656 (human) RGD PMID:22328738 RGD:8661724 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO 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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20953186 PMID:20953188 NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667 		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, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:14687717 RGD:1581251 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B27 (human) RGD PMID:8154628 RGD:7365111 NCBI chr20:3,314,491...3,322,815 JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:14687717 RGD:1581251 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:7748224 RGD:6482278 NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:7748224 RGD:6482278 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		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 chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		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 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO 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 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
restrictive dermopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Restrictive dermopathy 1 | ClinVar Annotator: match by term: ZMPSTE24-related disorder OMIM
ClinVar		 PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:16297189 More... NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
restrictive dermopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 OMIM
ClinVar		 PMID:262236 PMID:2733290 PMID:4740717 PMID:8619549 PMID:9106535 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
rheumatic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gc GC, vitamin D binding protein ISO RGD PMID:2737695 RGD:5509933 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:14567831 RGD:13702910 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms, haplotypes:multiple
DNA:polymorphism: :HLA-DQA1*03 (human)		 RGD PMID:17559688 PMID:15789899 RGD:5147792, RGD:127285392 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		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 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Cd209d CD209d molecule ISO protein:increased expression:left cardiac atrium, dendritic cell (human) RGD PMID:30261069 RGD:41410815 NCBI chr12:6,689,002...6,695,452
Ensembl chr12:1,891,113...1,901,171 		JBrowse link
G Cd36 CD36 molecule ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:16741676 RGD:6893529 NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain IEP mRNA:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP RGD PMID:26823728 RGD:13792679 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 no_association ISO RGD PMID:16043936 RGD:1598626 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Inhba inhibin subunit beta A IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:219,666,592...219,779,794 		JBrowse link
G Mir155 microRNA 155 IMP RGD PMID:31894293 RGD:151347417 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO 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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*08 (human) RGD PMID:17578051 RGD:5147630 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism (human)
DNA:polymorphism:cds:HLA-DRB1*13 (human)		 RGD PMID:17578051 PMID:16426242 RGD:5147630, RGD:5147643 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Snai1 snail family transcriptional repressor 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 3:176,667,476...176,671,965
Ensembl chr 3:156,248,485...156,252,969 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 treatment IEP RGD PMID:31894293 RGD:151347417 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr17:56,644,397...56,811,155
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 IEP mRNA, protein:increases expression:mitral valve, heart (rat) RGD PMID:33179113 RGD:155882558 NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
rheumatic myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO protein:decreased expression:blood plasma (human) RGD PMID:25403731 RGD:329333026 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Sele selectin E severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr13:78,935,997...78,945,905
Ensembl chr13:76,403,304...76,412,741 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 severity ISO protein:increased expression:serum RGD PMID:22987107 RGD:13702907 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958 		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 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20080907 PMID:22104130 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr10:79,793,571...79,839,528
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Abcc4 ATP binding cassette subfamily C member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr15:101,948,387...102,182,912
Ensembl chr15:95,542,315...95,774,283 		JBrowse link
G Abcc5 ATP binding cassette subfamily C member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr11:93,975,579...94,071,659
Ensembl chr11:80,473,872...80,567,253 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Acan aggrecan disease_progression ISO CTD Direct Evidence: marker/mechanism
protein:increased degradation:cartilage		 CTD
RGD		 PMID:15292528 PMID:16507130 RGD:11570537 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Ackr3 atypical chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 ISO mRNA:increased expression:synovium RGD PMID:11801682 RGD:10043106 NCBI chr13:86,203,011...86,212,500
Ensembl chr13:83,670,183...83,680,065 		JBrowse link
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 ISO protein:alternative form:synovium RGD PMID:11801682 RGD:10043106 NCBI chr11:38,486,945...38,533,516
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12833524 PMID:21789720 RGD:5686424 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:12739037 RGD:5684893 NCBI chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Aff3 ALF transcription elongation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 9:47,894,903...48,352,380
Ensembl chr 9:40,404,375...40,857,247 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:decreased expression:plasma (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16385501 PMID:20541603 RGD:7244141 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18617548 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Ang angiogenin ISO RGD PMID:12653852 RGD:6892721 NCBI chr15:26,786,233...26,796,883 JBrowse link
G Ankrd55 ankyrin repeat domain 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 2:45,617,011...45,717,086
Ensembl chr 2:43,883,857...43,983,680 		JBrowse link
G Anxa3 annexin A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:13,031,675...13,085,678
Ensembl chr14:12,719,795...12,781,617 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood serum (human) RGD PMID:20367977 RGD:5685646 NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 PMID:23143596 NCBI chr20:20,305,693...20,489,689
Ensembl chr20:20,307,731...20,487,433 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19193698 NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Azgp1 alpha-2-glycoprotein 1, zinc-binding IEP mRNA:decreased expression:liver RGD PMID:18372237 RGD:153352318 NCBI chr12:22,044,685...22,051,248
Ensembl chr12:16,931,024...16,939,091 		JBrowse link
G B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr14:101,009,682...101,034,507
Ensembl chr14:96,806,664...96,835,273 		JBrowse link
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr19:50,039,649...50,042,206
Ensembl chr19:33,128,142...33,132,344 		JBrowse link
G Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr12:15,364,090...15,453,602
Ensembl chr12:10,250,473...10,339,928 		JBrowse link
G Bcl2a1 BCL2-related protein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 8:98,596,806...98,604,890
Ensembl chr 8:89,716,914...89,724,998 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:serum RGD PMID:22447331 PMID:3488088 RGD:6483593, RGD:6483600 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bgn biglycan ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr  X:156,348,633...156,360,797
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr15:41,802,701...41,841,004
Ensembl chr15:37,627,039...37,665,031 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNPs: : RGD PMID:23364395 RGD:9685033 NCBI chr20:4,492,100...4,505,932
Ensembl chr20:4,489,517...4,503,341 		JBrowse link
G C3 complement C3 ISO RGD PMID:7561187 RGD:11040775 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C4b complement C4B ISO RGD PMID:22076784 RGD:5688263 NCBI chr20:4,201,979...4,216,292
Ensembl chr20:4,197,366...4,211,681 		JBrowse link
G Cald1 caldesmon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932 		JBrowse link
G Car1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208 		JBrowse link
G Car2 carbonic anhydrase 2 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Casp7 caspase 7 ISO RGD PMID:18785314 RGD:5684540 NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Cast calpastatin ISO RGD PMID:7706496 RGD:5683620 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 4:46,582,681...46,590,058
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:serum RGD PMID:20056091 RGD:4891442 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO protein:increased expression:plasma: RGD PMID:19942450 RGD:10054497 NCBI chr19:10,263,589...10,270,359
Ensembl chr19:10,257,601...10,264,400 		JBrowse link
G Ccn1 cellular communication network factor 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)		 CTD
RGD		 PMID:19192274 PMID:34031328 RGD:329845561 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:12860725 RGD:5688170 NCBI chr 8:132,433,711...132,439,266 JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO protein:increased expression:synovial membrane:
mRNA:increased expression:synovium:		 RGD PMID:19942450 PMID:25430645 RGD:10054497, RGD:10054499 NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 resistance
no_association		 ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:16541097 PMID:17565662 RGD:1626290, RGD:1626283 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453841 PMID:20453842 PMID:23143596 NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603 		JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 2:191,399,510...191,412,659
Ensembl chr 2:188,710,900...188,724,026 		JBrowse link
G Cd244 CD244 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CD244-related condition | ClinVar Annotator: match by term: Rheumatoid arthritis		 CTD
ClinVar
OMIM		 PMID:18794858 PMID:25741868 PMID:28492532 NCBI chr13:86,583,727...86,606,902
Ensembl chr13:84,052,493...84,074,492 		JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19898481 PMID:20453842 PMID:23143596 PMID:19075187 RGD:5131619 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd40 CD40 molecule ISO DNA:SNP: :rs4810485 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18794853 PMID:20453842 PMID:23143596 PMID:20498205 RGD:5490972 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd5 Cd5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 1:216,790,245...216,811,209
Ensembl chr 1:207,365,337...207,386,313 		JBrowse link
G Cd80 Cd80 molecule ISO protein:increased expression:serum RGD PMID:22917707 RGD:6893647 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cd83 CD83 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr17:21,093,281...21,113,223
Ensembl chr17:20,887,309...20,907,083 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:knee, articular cartilage (human) RGD PMID:19248099 RGD:10401213 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:10461474 RGD:4892605 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit IEP mRNA,protein:increased expression:joint, spleen: RGD PMID:31279484 RGD:151676715 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:23261301 PMID:25741868 PMID:28492532 NCBI chr 9:95,325,984...95,332,092
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator susceptibility
no_association		 ISO DNA:haplotype:promoter/CDS:rs3087456G/rs4774C (human)
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 (human)
DNA:polymorphism:promoter:rs3087456, no association in a German cohort (Human)		 OMIM
ClinVar
CTD
RGD		 PMID:8402893 PMID:9099848 PMID:15821736 PMID:16199547 PMID:16849401 More... RGD:5491176, RGD:1358146, RGD:5491189 NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Clec12a C-type lectin domain family 12, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 4:164,484,162...164,502,793
Ensembl chr 4:162,798,125...162,816,753 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs6498169G (human) RGD PMID:19221398 RGD:5491176 NCBI chr10:5,434,725...5,631,246
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27028940 PMID:29935983 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Crp C-reactive protein ISO
IDA		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:1568518 PMID:22173958 PMID:22173958 RGD:6904209, RGD:6904209 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:11465708 RGD:4892002 NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:synovial fluid, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:24313545 NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Ddit4 DNA-damage-inducible transcript 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr20:28,434,938...28,437,037
Ensembl chr20:27,891,998...27,894,105 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 8:53,827,661...53,864,538
Ensembl chr 8:44,931,974...44,964,405
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chr15:19,351,683...19,378,536
Ensembl chr15:16,922,335...16,948,317 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISS OMIM:180300 MouseDO NCBI chr19:40,149,505...40,152,225
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Dnmt1 DNA methyltransferase 1 severity ISO mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO DNA:polymorphism:promoter:-283C>T(human) RGD PMID:19777235 RGD:9589110 NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Edn1 endothelin 1 treatment ISO RGD PMID:22249931 RGD:8661695 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Eno1 enolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898480 NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336
Ensembl chr 3:160,719,951...160,731,336 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chr15:44,210,124...44,230,785
Ensembl chr15:40,034,568...40,055,306
Ensembl chr15:40,034,568...40,055,306 		JBrowse link
G Esr2 estrogen receptor 2 severity ISO DNA:SNP:exon:rs1256049(human) RGD PMID:21523342 RGD:5508794 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2 coagulation factor II, thrombin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26001728 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:snp:promoter:g.-670A>G (human)
protein:increased expression:serum (human)		 RGD PMID:23053964 PMID:20875116 PMID:12148596 RGD:8662433, RGD:12903969, RGD:8662455 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fcgr1a Fc gamma receptor 1A ISO protein:increased expression:synovial joint: RGD PMID:16670289 RGD:9685708 NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO 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 chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO 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 chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr20:6,458,931...6,577,227
Ensembl chr20:6,457,216...6,541,674 		JBrowse link
G Foxo3 forkhead box O3 ISO mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: RGD PMID:19435720 RGD:10402186 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Foxp3 forkhead box P3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20476861 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 3:36,370,505...36,391,314
Ensembl chr 3:15,972,800...15,993,563 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr11:44,351,841...44,377,086
Ensembl chr11:30,865,889...30,891,125 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gc GC, vitamin D binding protein ISO protein:decreased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:3874814 PMID:9548303 RGD:5509931 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18830904 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:144,454,338...144,458,612 		JBrowse link
G Ggh gamma-glutamyl hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23897011 NCBI chr 5:38,326,747...38,349,655
Ensembl chr 5:33,529,880...33,552,787 		JBrowse link
G Gin1 gypsy retrotransposon integrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 9:105,740,914...105,762,357
Ensembl chr 9:98,293,597...98,315,848 		JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 4:169,634,896...169,653,627
Ensembl chr 4:167,903,542...167,922,260 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO DNA: deletion: : heterozygous
CTD Direct Evidence: marker/mechanism
protein: decreased expression: mononuclear cells		 CTD
RGD		 PMID:10094932 PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 no_association ISO DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis
protein: decreased expression: mononuclear leukocytes		 RGD PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr 1:270,014,314...270,208,294
Ensembl chr 1:260,028,242...260,218,701 		JBrowse link
G Grk6 G protein-coupled receptor kinase 6 ISO DNA: deletion: : homozygous
CTD Direct Evidence: marker/mechanism
protein: decreased expression: mononuclear cells		 CTD
RGD		 PMID:10094932 PMID:18662895 PMID:10094932 RGD:5688373, RGD:5688380 NCBI chr17:9,182,160...9,198,380
Ensembl chr17:9,177,019...9,192,644 		JBrowse link
G Gsdme gasdermin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 4:80,590,344...80,651,943
Ensembl chr 4:79,257,804...79,320,806 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: :
DNA:deletion: : 		RGD PMID:16887863 PMID:15940757 PMID:16870093 RGD:5490993, RGD:5490998, RGD:5490994 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity
susceptibility		 ISO DNA:deletion: : RGD PMID:19473562 PMID:20401725 PMID:20597111 RGD:5490553, RGD:5490983, RGD:5490982 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:22,366,967...22,431,709
Ensembl chr 2:20,631,640...20,693,777 		JBrowse link
G Hcls1 hematopoietic cell specific Lyn substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr11:77,322,873...77,346,333
Ensembl chr11:63,817,476...63,841,014 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32289289 NCBI chr 5:147,138,328...147,165,387
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30651232 RGD:14746965 NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:serum: RGD PMID:24387171 RGD:8548659 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:layer of synovial tissue, stromal cell RGD PMID:12823854 RGD:10395366 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 severity IDA RGD PMID:18025202 RGD:9685481 NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:80,001,947...80,005,156
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:79,992,394...79,994,688
Ensembl chr 3:59,585,039...59,586,783 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr13:107,277,526...107,327,462
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Hsp90aa1 heat shock protein 90 alpha family class A member 1 ISO mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:peripheral blood lymphocyte (human) RGD PMID:22047640 RGD:5688784 NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression:synovial joint RGD PMID:11315915 RGD:5685639 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO protein:increased expression:synovial cell: RGD PMID:23739258 RGD:10402561 NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,535,798...26,554,292 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO protein:increased expression:serum: RGD PMID:21417552 RGD:10402843 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO mRNA:increased expression:peripheral blood leukocyte: RGD PMID:21417552 RGD:10402843 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Ifng interferon gamma treatment ISO mRNA:increased expression:synovial (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22450443 PMID:1417133 PMID:22660635 RGD:8157623, RGD:155663483 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO DNA:loss of imprinting:synovial cell
protein:decreased expression:plasma		 RGD PMID:19556211 PMID:11247331 RGD:5510001, RGD:5510014 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr10:83,956,850...84,049,861
Ensembl chr10:83,465,745...83,553,591 		JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of		 CTD
OMIM
ClinVar		 PMID:12847677 PMID:22450443 PMID:25741868 PMID:28492532 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A treatment ISO mRNA:increased expression:synovial (human) RGD PMID:20926833 PMID:22660635 RGD:9068415, RGD:155663483 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16368150 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of ClinVar PMID:12847677 PMID:25741868 PMID:28492532 NCBI chr13:44,949,989...44,958,714
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il1a interleukin 1 alpha severity ISO associated with lung disease, interstitial
protein:increased expression:plasma, synovial fluid		 RGD PMID:11192540 PMID:8162643 RGD:4142818, RGD:7794716 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO 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 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:7706905 PMID:19192274 PMID:19447938 PMID:10637275 RGD:7174696, RGD:8549810 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6421522 RGD:8662948 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il20 interleukin 20 ISO RGD PMID:16947773 RGD:5147395 NCBI chr13:44,933,249...44,936,893
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:19342640 RGD:6892964 NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:721,809...723,923 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP::rs1343151(human) RGD PMID:18647855 RGD:8549596 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:20476861 PMID:23143596 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054 		JBrowse link
G Il3 interleukin 3 ISO DNA: SNPs: Multiple: gene-gene interaction RGD PMID:20018070 RGD:5686905 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,405,716...38,408,066 		JBrowse link
G Il4r interleukin 4 receptor severity ISO DNA:SNP: :rs1805010 (human) RGD PMID:24782180 RGD:10402783 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22293286 RGD:5687156 NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 PMID:22450443 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16729287 PMID:23143596 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:180300		 CTD
MouseDO		 PMID:20453842 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO 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 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Itga6 integrin subunit alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 3:77,012,168...77,097,076
Ensembl chr 3:56,617,268...56,689,428 		JBrowse link
G Itpa inosine triphosphatase treatment ISO DNA:SNP: :94C>A(human) RGD PMID:29441893 RGD:14975307 NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21510883 RGD:6483024 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:36104638 RGD:155791669 NCBI chr 9:6,799,101...6,903,616
Ensembl chr 9:6,562,288...6,667,064 		JBrowse link
G Kif5a kinesin family member 5A susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human)
DNA:snp:intron:c.1717-152C>G (rs1678542) (human)		 CTD
RGD		 PMID:23143596 PMID:21784728 PMID:23378462 RGD:12793073, RGD:12793072 NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Kmt2c lysine methyltransferase 2C treatment IMP RGD PMID:33914205 RGD:151356764 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7554268 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lhx2 LIM homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 3:42,523,345...42,553,646
Ensembl chr 3:22,126,007...22,143,908 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO RGD PMID:17082220 RGD:5508419 NCBI chr 7:124,706,246...124,867,234
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 NCBI chr 5:7,365,536...7,397,864
Ensembl chr 5:2,582,254...2,612,386 		JBrowse link
G Mab21l2 mab-21 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:174,244,538...174,247,620
Ensembl chr 2:171,946,573...171,949,655 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr20:42,240,185...42,245,882
Ensembl chr20:40,685,315...40,691,012 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO mRNA:increased expression:mononuclear cell RGD PMID:20937307 RGD:9588623 NCBI chr18:66,449,196...66,516,112
Ensembl chr18:64,174,002...64,240,794 		JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase susceptibility
no_association		 ISO DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human)
DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human)		 RGD PMID:20676650 PMID:22505706 RGD:9588977, RGD:9588978 NCBI chr 4:150,565,646...150,577,433
Ensembl chr 4:148,894,280...148,904,982 		JBrowse link
G Mdk midkine ISO RGD PMID:15146411 RGD:1581200 NCBI chr 3:98,356,789...98,358,960
Ensembl chr 3:77,901,158...77,903,130 		JBrowse link
G Mgarp mitochondria-localized glutamic acid-rich protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 2:137,582,152...137,590,294
Ensembl chr 2:135,431,283...135,439,612 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Mir146a microRNA 146a ISO mRNA:decreased expression:cartilage tissue (human)
mRNA:increased expression:synovial (human)		 RGD PMID:31472145 PMID:22660635 RGD:152177908, RGD:155663483 NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610 		JBrowse link
G Mir23b microRNA 23b ISO mRNA, protein:decreased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:165,431,343...165,461,716 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:plasma (human) RGD PMID:9972954 RGD:7207129 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp10 matrix metallopeptidase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 8:12,974,707...12,982,613
Ensembl chr 8:4,689,840...4,697,748 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISS OMIM:180300 MouseDO NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16872482 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 disease_progression ISO protein:increased expression:serum (human) RGD PMID:7639798 PMID:22314025 PMID:11796404 RGD:7207128, RGD:8693673, RGD:7241254 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO protein:increased expression:synovial fluid, serum (human) RGD PMID:15194590 RGD:7207131 NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16406300 RGD:1582623 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22450443 PMID:26001728 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:15987486 RGD:5490238 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22104130 PMID:23685257 RGD:7387222 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 induced ISO
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:polymorphism:M153T (rat)		 CTD
RGD		 PMID:12833524 PMID:28135245 PMID:21275845 RGD:41404729 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism, SNP:cds (rs789181) (human)		 CTD
RGD		 PMID:12833524 PMID:17897462 RGD:41404710 NCBI chr13:67,505,492...67,536,015
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO DNA:polymorphism, SNP:cds (rs729749) (human) RGD PMID:17897462 RGD:41404710 NCBI chr 7:111,705,926...111,723,893
Ensembl chr 7:109,826,020...109,843,389 		JBrowse link
G Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 7:65,242,169...65,244,296
Ensembl chr 7:63,356,883...63,359,010 		JBrowse link
G Nfkbie NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 9:22,941,037...22,947,872
Ensembl chr 9:15,436,941...15,450,437 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 susceptibility ISO 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 chr20:3,595,319...3,610,295
Ensembl chr20:3,590,642...3,605,616 		JBrowse link
G Notch4 notch receptor 4 ISO mRNA : increased expression: : cd4+ cells RGD PMID:20132067 RGD:6480790 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:20179762 RGD:4891930 NCBI chr 8:30,882,830...31,107,425
Ensembl chr 8:22,606,946...22,831,558 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP mRNA:increased expression:paw RGD PMID:18448865 RGD:4892311 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 5:67,157,141...67,198,287
Ensembl chr 5:62,361,822...62,402,733 		JBrowse link
G Oprm1 opioid receptor, mu 1 susceptibility ISO DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) RGD PMID:31309790 RGD:401827955 NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr 5:158,492,087...158,534,662
Ensembl chr 5:153,209,053...153,251,632 		JBrowse link
G Padi4 peptidyl arginine deiminase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rheumatoid arthritis		 CTD
ClinVar		 PMID:23143596 NCBI chr 5:158,324,417...158,357,466
Ensembl chr 5:153,041,352...153,074,362 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:1708827 RGD:6482653 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:19180491 RGD:6483591 NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO mRNA:increased expression:cartilage tissue (human) RGD PMID:31472145 RGD:152177908 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:17326817 RGD:6482776 NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO RGD PMID:22011479 RGD:6484117 NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595 		JBrowse link
G Plb1 phospholipase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24520335 NCBI chr 6:29,807,127...29,945,607
Ensembl chr 6:24,089,214...24,210,117 		JBrowse link
G Pld4 phospholipase D family, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr 6:137,639,948...137,647,462
Ensembl chr 6:131,818,860...131,826,376 		JBrowse link
G Plek pleckstrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr14:95,598,650...95,631,326
Ensembl chr14:91,397,019...91,454,131 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16055108 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pou3f1 POU class 3 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 5:142,195,090...142,198,070
Ensembl chr 5:136,910,391...136,913,371 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898481 PMID:20453842 PMID:23143596 PMID:36181686 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Prkcq protein kinase C, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:23143596 NCBI chr17:72,156,215...72,288,508
Ensembl chr17:67,246,394...67,378,704 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15167967 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11978490 PMID:19192274 PMID:21905970 RGD:5508313 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783 		JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446963 NCBI chr18:63,498,890...63,564,571
Ensembl chr18:61,229,014...61,294,627 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility
no_association		 ISO DNA:snp:cds:p.R620W (rs2476601) (human)
ClinVar Annotator: match by term: Rheumatoid arthritis
CTD Direct Evidence: marker/mechanism
DNA:SNP::1858C>T (human)
DNA:snp:cds:p.R263Q (rs33996649) (human)		 ClinVar
OMIM
CTD
RGD		 PMID:19898480 PMID:20453842 PMID:21190368 PMID:23143596 PMID:25741868 More... RGD:6484535, RGD:7829746, RGD:6484595 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr13:52,147,717...52,259,810
Ensembl chr13:49,596,193...49,708,692 		JBrowse link
G Pxk PX domain containing serine/threonine kinase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chr15:19,190,085...19,258,711
Ensembl chr15:16,759,862...16,828,444 		JBrowse link
G Rab8a RAB8A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr16:17,688,049...17,709,412
Ensembl chr16:17,654,034...17,675,678 		JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr15:104,003,744...104,004,234
Ensembl chr15:97,596,020...97,624,138 		JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 3:124,624,039...124,684,079
Ensembl chr 3:104,170,013...104,230,056 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr14:61,551,366...61,736,220
Ensembl chr14:57,338,507...57,523,353 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr11:45,108,123...45,188,065
Ensembl chr11:31,622,210...31,702,045 		JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503088 PMID:20453842 PMID:23143596 NCBI chr14:101,891,238...101,922,324
Ensembl chr14:97,695,161...97,720,892 		JBrowse link
G Rgmb repulsive guidance molecule BMP co-receptor b ISO CTD Direct Evidence: marker/mechanism CTD PMID:17568789 NCBI chr 1:65,439,748...65,465,149
Ensembl chr 1:56,767,850...56,792,425 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphisms (human)
DNA:polymorphism (human)		 RGD PMID:11482129 PMID:11454644 RGD:5147859, RGD:5147860 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:11454644 RGD:5147860 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO 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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17956852 PMID:22286218 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Runx1 RUNX family transcription factor 1 no_association ISO DNA:SNPs: :rs2242720, rs4816502 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs2268277 (human)
DNA:SNP:intron:24658G>C (human)		 CTD
RGD		 PMID:23143596 PMID:20018071 PMID:18087673 PMID:18328148 PMID:16821265 RGD:6482836, RGD:6482840, RGD:6482839, RGD:6482837 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Sema3c semaphorin 3C ISO protein:increased expression:knee, synovium (human) RGD PMID:15077297 RGD:1580084 NCBI chr 4:18,538,452...18,702,453
Ensembl chr 4:17,583,212...17,746,534 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 severity ISO 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 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc22a4 solute carrier family 22 member 4 susceptibility ISO ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14608356 PMID:19881261 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:38,634,098...38,687,409
Ensembl chr10:38,133,322...38,179,720 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 3:76,504,868...76,599,536
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Sms spermine synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr  X:41,331,693...41,387,713
Ensembl chr  X:37,516,931...37,570,822
Ensembl chr 3:37,516,931...37,570,822 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 PMID:15292528 PMID:24313545 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15761492 RGD:1581382 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr14:98,350,577...98,452,143
Ensembl chr14:94,148,837...94,249,162 		JBrowse link
G St6galnac5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17379860 PMID:17568789 NCBI chr 2:244,398,604...244,571,100
Ensembl chr 2:241,742,688...241,911,208 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr  X:46,102,524...46,110,868
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
G Supt20h SPT20 homolog, SAGA complex component ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar NCBI chr 2:141,047,479...141,080,656
Ensembl chr 2:138,897,416...138,930,495 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:2,375,490...2,424,756 		JBrowse link
G Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO mRNA, protein:increased expression:synovial (human) RGD PMID:22660635 RGD:155663483 NCBI chr  X:53,923,473...53,995,777
Ensembl chr  X:49,972,330...50,042,056 		JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 1:49,575,750...49,584,747
Ensembl chr 1:47,170,725...47,179,792 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO RGD PMID:9645419 RGD:6482275 NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15292528 PMID:17379860 NCBI chr 4:32,936,462...32,941,385
Ensembl chr 4:31,982,178...31,986,600 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:15700117 RGD:5685020 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tle3 TLE family member 3, transcriptional corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 NCBI chr 8:70,753,182...70,799,080
Ensembl chr 8:61,858,200...61,903,493 		JBrowse link
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: Rheumatoid arthritis ClinVar PMID:32594150 NCBI chr14:43,737,761...43,750,389
Ensembl chr14:43,384,932...43,397,125 		JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tmpo thymopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12833524 NCBI chr 7:27,529,977...27,554,980
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Tnf tumor necrosis factor treatment
no_association		 ISO
ISS		 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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfaip2 TNF alpha induced protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 6:136,297,388...136,311,106
Ensembl chr 6:130,476,889...130,489,914 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:20453842 PMID:21841782 PMID:23143596 PMID:30224649 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:23333834 NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:165,484,262...165,493,703 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A treatment ISO DNA:SNP:promoter:36G>A (human) RGD PMID:25311255 RGD:12904065 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfsf14 TNF superfamily member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:2,155,270...2,160,100
Ensembl chr 9:2,069,104...2,073,216 		JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18794853 PMID:23143596 NCBI chr 3:38,607,707...38,639,641
Ensembl chr 3:18,222,054...18,241,807 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20453842 PMID:23143596 NCBI chr 3:108,418,537...108,443,330
Ensembl chr 3:87,963,514...87,983,507 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 treatment IEP RGD PMID:27049384 RGD:127229930 NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
G Txndc5 thioredoxin domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23326410 NCBI chr17:26,495,467...26,523,608
Ensembl chr17:26,289,880...26,318,025 		JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19192274 NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143596 PMID:30224649 NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
G Tyms thymidylate synthetase treatment ISO DNA:polymorphism: : RGD PMID:22763757 RGD:11075093 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp treatment IEP RGD PMID:27049384 RGD:127229930 NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:85,672,994...85,676,848 		JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)		 RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16368150 PMID:24387171 RGD:8548659 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vim vimentin ISO RGD PMID:21792832 RGD:6480508 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISS OMIM:180300 MouseDO NCBI chr 9:46,485,605...46,507,552
Ensembl chr 9:38,989,750...39,011,700 		JBrowse link
G Zfp36 zinc finger protein 36 ISS OMIM:180300 MouseDO NCBI chr 1:92,796,628...92,799,108
Ensembl chr 1:83,669,084...83,671,564 		JBrowse link
Sacroiliac Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Sacroiliac arthritis ClinVar NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
Sacroiliitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:19533139 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
Salcedo Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 | ClinVar Annotator: match by term: Nail-patella-like renal disease OMIM
ClinVar		 PMID:9590287 PMID:9837817 PMID:23687361 PMID:24042019 PMID:25741868 More... NCBI chr 3:37,257,025...37,338,675
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome OMIM
ClinVar		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar NCBI chr20:55,409,814...55,489,450
Ensembl chr20:53,828,364...53,907,212 		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 ISO RGD PMID:17393419 RGD:5683892 NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Cd4 Cd4 molecule treatment IMP RGD PMID:1730259 RGD:10058962 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:157,668,878...157,695,191 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO RGD PMID:23204180 RGD:41410433 NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19203382 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome OMIM
ClinVar		 PMID:9536098 PMID:14216462 PMID:16080123 PMID:16199547 PMID:17576681 More... NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:132,981,582...133,043,627 		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 chr20:10,635,775...10,650,709
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bdnf brain-derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: RGD PMID:30249485 RGD:14398821 NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,217,407...18,220,979 		JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Car1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:86,861,897...86,872,208 		JBrowse link
G Car2 carbonic anhydrase 2 ISO RGD PMID:15831920 PMID:12806141 RGD:408425973, RGD:408425977 NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:12412204 PMID:23773920 RGD:8551796, RGD:8551818 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISS OMIM:270150 MouseDO NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,097,381...84,108,309 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Crp C-reactive protein ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum: RGD PMID:2353152 PMID:16013223 RGD:9491774, RGD:9491835 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)
mRNA:increased expression:salivary gland:		 RGD PMID:16869018 PMID:12528117 RGD:7421506, RGD:7421519 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISS OMIM:270150 MouseDO NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,059,170...1,073,131 		JBrowse link
G E2f1 E2F transcription factor 1 ISS OMIM:270150 MouseDO NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Fas Fas cell surface death receptor ISO
ISS		 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 chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr12:28,037,344...28,112,677
Ensembl chr12:22,401,431...22,476,243 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:24941846 RGD:10450595 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chr10:35,187,412...35,203,909
Ensembl chr10:34,693,555...34,702,846 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:salivary gland
protein:increased expression:plasma		 RGD PMID:11359451 PMID:21589878 PMID:15037117 RGD:8158122, RGD:8547705, RGD:8547696 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Id3 inhibitor of DNA binding 3 ISS OMIM:270150 MouseDO NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:148,372,762...148,374,349 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:15584966 PMID:28421993 RGD:8142390, RGD:14975117 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:152,965,769...152,972,734 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO 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 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISS OMIM:270150 MouseDO NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISS OMIM:270150 MouseDO NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il4 interleukin 4 ISS OMIM:270150 MouseDO NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)		 RGD PMID:11426023 PMID:11426023 RGD:7829718, RGD:7829718 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:92,608,468...92,628,377
Ensembl chr 8:83,731,507...83,748,289 		JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:33,336,086...33,446,818
Ensembl chr 6:27,600,406...27,727,124 		JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility		 ISO 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 chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:270150 MouseDO NCBI chr10:88,665,417...88,715,669
Ensembl chr10:88,165,351...88,215,523 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:15316122 PMID:9923658 RGD:8547814, RGD:8547858 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO mRNA, protein:increased expression:conjunctival epithelial cell, tear RGD PMID:19122828 RGD:7364772 NCBI chr 8:24,440,840...24,644,494 JBrowse link
G Muc19 mucin 19, oligomeric ISO
ISS		 mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150		 MouseDO
RGD		 PMID:18184611 RGD:7364736 NCBI chr 7:124,897,424...125,018,582
Ensembl chr 7:123,017,896...123,139,053 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISS
ISO		 OMIM:270150 MouseDO
RGD		 PMID:20696914 RGD:126908016 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:92,656,890...92,771,098
Ensembl chr 8:83,781,465...83,894,283 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16163373 PMID:15933742 RGD:11534998, RGD:11534999 NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:28,394,940...28,406,410
Ensembl chr10:27,893,689...27,904,837 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO protein:increased expression:minor salivary gland, salivary ductal epithelium (human) RGD PMID:19016805 RGD:9850137 NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570 		JBrowse link
G Rorc RAR-related orphan receptor C ISS OMIM:270150 MouseDO NCBI chr 2:184,698,779...184,723,942
Ensembl chr 2:182,009,286...182,034,907 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO 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 chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO 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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0301 (human) RGD PMID:11555411 RGD:5147809 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Satb1 SATB homeobox 1 ISS OMIM:270150 MouseDO NCBI chr 9:4,916,958...5,010,359
Ensembl chr 9:4,680,920...4,753,251 		JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISS OMIM:270150 MouseDO NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:29,540,811...29,581,517 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO 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 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540 		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 chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Thbs1 thrombospondin 1 ISS OMIM:270150 MouseDO NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP		 DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762 PMID:24941846 RGD:7394766, RGD:10450595 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISS OMIM:270150 MouseDO NCBI chr16:86,164,377...86,195,072
Ensembl chr16:79,462,402...79,492,693 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,037,058...39,077,625 		JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:270150 MouseDO NCBI chr20:44,565,992...44,609,240
Ensembl chr20:43,011,450...43,054,667 		JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:42,065,120...42,073,216 		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 ISO DNA:deletion: : RGD PMID:10616008 RGD:5491001 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: CSGALNACT1-related condition | ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM
ClinVar		 PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319 		JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr10:17,184,853...17,187,646 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 6:134,321,142...134,321,238
Ensembl chr 6:128,538,902...128,538,998 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Spondylarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 no_association ISO RGD PMID:15603870 PMID:9496154 RGD:6483462, RGD:6483495 NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G RT1-M5 RT1 class Ib, locus M5 susceptibility ISO DNA:polymorphisms:cds:HLA-B*2714, B*2705 (human) RGD PMID:12889998 RGD:10755578 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
spondyloarthropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO DNA:missense mutation:exon:p.G274S(human) RGD PMID:7866404 RGD:12108857 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:106300 MouseDO NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Il27 interleukin 27 ISO RGD PMID:29494633 RGD:14995936 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:9489833 RGD:7829742 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B27 (human) RGD PMID:2257626 RGD:7387221 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-M5 RT1 class Ib, locus M5 no_association ISO DNA:polymorphisms:cds:HLA-B2705 (human) RGD PMID:21927904 RGD:10755579 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Tnf tumor necrosis factor ISS OMIM:106300 MouseDO NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:29494633 RGD:14995936 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 PMID:29931299 PMID:32381727 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM
ClinVar		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: EXOC6B-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:28492532 PMID:30284759 NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
Stapes Ankylosis with Broad Thumbs and Toes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfn1 ankyrin-repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes ClinVar NCBI chr10:74,711,284...75,099,954
Ensembl chr10:74,218,915...74,663,295 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes OMIM
ClinVar		 PMID:9851982 PMID:10069712 PMID:10080184 PMID:11160400 PMID:11545688 More... NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
stiff skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Stiff skin syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
synovitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G RT1-M5 RT1 class Ib, locus M5 susceptibility ISO associated with Hemophilia;DNA:polymorphisms:cds:HLA-B*2708(human) RGD PMID:12889998 RGD:10755578 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		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 chr16:74,133,259...74,145,328
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:18358927 RGD:10402823 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Mif macrophage migration inhibitory factor susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
DNA:missense mutation:cds:c.682T>G (p.C228G)(human) 		OMIM
CTD
ClinVar
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 More... RGD:12801450 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
Temporomandibular Joint Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 severity ISO mRNA:increased expression:temporomandibular joint RGD PMID:24316289 PMID:18830934 RGD:10043104, RGD:10043108 NCBI chr11:38,486,945...38,533,516
Ensembl chr11:25,000,637...25,047,205 		JBrowse link
G Becn1 beclin 1 IEP mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISO ClinVar Annotator: match by term: Temporomandibular joint disorder ClinVar PMID:25741868 NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G Grk5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr 1:270,014,314...270,208,294
Ensembl chr 1:260,028,242...260,218,701 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 IEP protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 6:14,276,623...14,446,321
Ensembl chr 6:14,277,121...14,446,334 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA RGD PMID:23386193 RGD:10041017 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Tnf tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		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 3A IMP RGD PMID:20589683 RGD:5508377 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921 		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 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:82,930,034...83,107,177 		JBrowse link
G Becn1 beclin 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Casp12 caspase 12 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 disease_progression IEP RGD PMID:28147322 RGD:155791443 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 IEP RGD PMID:31007149 RGD:34888237 NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029 		JBrowse link
G Fas Fas cell surface death receptor IEP mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 IEP mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta IEP RGD PMID:31007149 RGD:34888237 NCBI chr19:66,571,631...66,582,270
Ensembl chr19:49,665,791...49,677,690
Ensembl chr16:49,665,791...49,677,690 		JBrowse link
G Rps6 ribosomal protein S6 IEP RGD PMID:31007149 RGD:34888237 NCBI chr 5:106,417,680...106,420,540
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602 		JBrowse link
Van den Ende-Gupta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: SCARF2-related condition | ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
Van Maldergem syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO 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 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 PMID:28518168 More... NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:9536098 PMID:17576681 PMID:22469822 PMID:22473091 More... NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Ventriculomegaly and Arthrogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: KIDINS220-related condition | ClinVar Annotator: match by term: Ventriculomegaly and arthrogryposis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 More... NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256 		JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-cinotti syndrome OMIM
ClinVar		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Wieacker-Wolff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: 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 | ClinVar Annotator: match by term: ZC4H2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:24,582,732...24,627,462
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: MMP14-related condition | ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:28492532 More... NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 OMIM
ClinVar		 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chr  X:157,190,438...157,193,479
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Lmna lamin A/C ISO 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 PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:28492532 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
X-linked Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence ClinVar NCBI chr  X:17,463,521...17,478,298
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 More... NCBI chr  X:4,062,216...4,084,192
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8460
        bone disease 4363
          bone inflammation disease 1558
            Caffey disease + 5
            Osgood-Schlatter's disease 0
            arthritis + 1108
            arthropathy + 1537
            epicondylitis 0
            osteomyelitis + 23
            secondary hypertrophic osteoarthropathy 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8460
        connective tissue disease 5914
          bone disease 4363
            bone inflammation disease 1558
              Caffey disease + 5
              Osgood-Schlatter's disease 0
              arthritis + 1108
              arthropathy + 1537
              epicondylitis 0
              osteomyelitis + 23
              secondary hypertrophic osteoarthropathy 0
paths to the root