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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Limitation of joint mobility
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Accession:HP:0001376 term browser browse the term
Definition:A reduction in the freedom of movement of one or more joints.
Synonyms:exact_synonym: Decreased joint mobility;   Decreased mobility of joints;   Limited joint mobility;   Limited joint motion
 alt_id: HP:0003101
 xref: UMLS:C1857108


show annotations for term's descendants           Sort by:
Limitation of joint mobility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO ORPHA:457 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626 		JBrowse link
G ACVR1 activin A receptor type 1 IAGP HPO ORPHA:337 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,249...157,876,347 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO ORPHA:3449 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP HPO ORPHA:3449 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO ORPHA:2623 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,522 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADCY6 adenylate cyclase 6 IAGP HPO ORPHA:2680 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,191...48,789,906 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO ORPHA:79327 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO ORPHA:281122 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP HPO ORPHA:281122 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:873 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,266...32,439,319 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO ORPHA:3329 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2639 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO MIM:236200 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO PMID:39414788 MIM:211350 MIM:621099 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CD96 CD96 molecule IAGP HPO ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,996 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO ORPHA:1545 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO ORPHA:2680 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:1427 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,766 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO PMID:17726487 MIM:156550 MIM:609162 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO ORPHA:1545 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:873 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DYM dymeclin IAGP HPO PMID:19005420 PMID:19816730 MIM:223800 MIM:607326 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:21683322 MIM:614185 ORPHA:2623 ORPHA:2833 ORPHA:3449 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:93259 ORPHA:93260 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:93274 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90650 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,120 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP HPO ORPHA:206583 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,699...81,761,781 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:2639 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO ORPHA:1486 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:2762 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 IAGP HPO PMID:32591345 PMID:35427807 PMID:36097642 MIM:619598 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,770,976...52,791,668 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO PMID:16094673 PMID:19659762 MIM:252500 MIM:252600 ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,396...49,123,746 		JBrowse link
G GUSB glucuronidase beta IAGP HPO PMID:26908836 MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO MIM:259100 ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO ORPHA:93473 ORPHA:93474 ORPHA:93476 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,342...65,248,355 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO ORPHA:2680 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,510...35,142,451 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:2378 ORPHA:93405 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:157973 ORPHA:740 ORPHA:79474 ORPHA:90153 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) HPO
RGD		 PMID:22539340 ORPHA:3449, RGD:243049250 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO ORPHA:2623 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO ORPHA:3377 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,217...50,733,348 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,996 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,158,260 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:376 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO ORPHA:99015 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,769,047...103,792,677 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO ORPHA:69126 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,325...77,037,475 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:99735 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:93405 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,012...75,289,968 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,699...134,052,184 		JBrowse link
G SMAD4 SMAD family member 4 IAGP DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M HPO
RGD		 PMID:22158539 PMID:22158539 MIM:139210, RGD:12880042 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:99966 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,451,906...61,485,110 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,961 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:281122 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO MIM:313400 ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,431...41,236,579 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO ORPHA:3454 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO ORPHA:2836 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
Ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:208000 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,637 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO PMID:26004201 MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:208000 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,807,993...131,895,155 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO MIM:602483 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,584...109,600,195 		JBrowse link
G GNAS GNAS complex locus IAGP HPO PMID:11784876 MIM:166350 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 RGD PMID:26571461 RGD:11058183 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,270...71,301,522 		JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO MIM:239000 ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO PMID:15317753 MIM:275210 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Ankylosis of feet small joints term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
Decreased hip abduction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO PMID:37352860 MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G NFIX nuclear factor I X IAGP HPO PMID:26200704 MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:114300 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO PMID:10952871 MIM:605355 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,351 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
Decreased movement range in interphalangeal joints term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO MIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,471 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:530838 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
Elbow ankylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:101600 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP DNA:missense mutations:cds:multiple HPO
RGD		 PMID:10633130 MIM:101600, RGD:12801485 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO PMID:16826533 MIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Elbow flexion contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO PMID:27625873 MIM:121050 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,789 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,295...44,114,565 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:447757 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,937...95,656,841 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G AMBN ameloblastin IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO PMID:27625873 MIM:121050 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,549...61,714,768 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,781 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO PMID:18834968 MIM:245600 MIM:612394 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G BGN biglycan IAGP HPO PMID:27625873 MIM:121050 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Elbow flexion contracture ClinVar
HPO		 PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO PMID:27625873 MIM:121050 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO PMID:18834968 MIM:612394 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO PMID:18834968 MIM:245600 MIM:612394 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:610 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO PMID:27625873 MIM:121050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,371...189,012,746 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,755...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,096,722...46,132,851 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,405 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,942...139,389,736 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO PMID:18834968 MIM:612394 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO PMID:30449416 MIM:271665 MIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,630,863...162,787,405 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:206546 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO MIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,825...232,489,045 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,962...55,924,271 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO PMID:27625873 MIM:121050 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,878,497 		JBrowse link
G EMD emerin IAGP HPO PMID:29250285 MIM:310300 ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,244...154,381,574 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:18834968 PMID:27625873 MIM:121050 MIM:612394 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO PMID:23623389 MIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,333...45,478,867 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO PMID:16380922 MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:20375004 PMID:23897642 PMID:27625873 MIM:121050 MIM:184900 MIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO PMID:30160831 MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO PMID:29909962 MIM:618156 NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,570...11,839,500 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO PMID:18834968 PMID:20696291 MIM:259450 MIM:612394 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO MIM:148210 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,980 		JBrowse link
G GLDN gliomedin IAGP HPO PMID:27616481 MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,611...51,408,005 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO PMID:31698099 MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO PMID:17998446 MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,442...64,759,446 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,588,316...17,617,430 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO PMID:33159882 MIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IPO8 importin 8 IAGP HPO PMID:27625873 MIM:121050 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,981...30,695,883 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO PMID:33861953 MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,919 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,718...29,805,388 		JBrowse link
G KIF5B kinesin family member 5B IAGP HPO PMID:18834968 MIM:612394 NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,014...32,056,454 		JBrowse link
G KLC4 kinesin light chain 4 IAGP HPO PMID:26423925 MIM:621129 NCBI chr 6:43,059,631...43,075,093
Ensembl chr 6:43,040,777...43,075,099 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO PMID:27485408 MIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO PMID:24957499 MIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO PMID:12966029 MIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,885 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO PMID:28318499 MIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,510...35,142,451 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:18834968 MIM:601559 MIM:612394 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations, nonsense mutation:cds:multiple HPO
RGD		 PMID:14627682 PMID:10080180 MIM:248370 MIM:616516 ORPHA:98853 ORPHA:98855, RGD:12791020 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOX lysyl oxidase IAGP HPO PMID:27625873 MIM:121050 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,634 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:27625873 MIM:121050 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,322...173,268,909 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO PMID:18834968 MIM:612394 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,834 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO PMID:27625873 MIM:121050 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,672,519 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,090...222,668,007 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO PMID:16510655 MIM:178110 MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO PMID:30215711 MIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO PMID:32707087 MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,332...30,377,991 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO PMID:25683120 MIM:616266 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,773...101,416,508 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO PMID:18834968 MIM:612394 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,913...15,561,340 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HA1 prolyl 4-hydroxylase subunit alpha 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr10:73,007,217...73,096,866
Ensembl chr10:73,005,811...73,096,983 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO PMID:25078763 MIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,396...118,658,038 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO PMID:22305531 MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO PMID:26293662 MIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO PMID:27625873 MIM:121050 ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO PMID:18834968 MIM:609220 MIM:612394 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,219,968 		JBrowse link
G PLS3 plastin 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,560,928...115,650,861 		JBrowse link
G PMEPA1 prostate transmembrane protein, androgen induced 1 IAGP HPO PMID:27625873 MIM:121050 NCBI chr20:57,648,396...57,711,472
Ensembl chr20:57,648,392...57,711,536 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO PMID:18834968 MIM:612394 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO PMID:25845478 MIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,325...77,037,475 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO PMID:22052856 MIM:614438 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,378...81,942,412 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO PMID:11370632 MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:29265708 MIM:210710 MIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO PMID:29769720 MIM:618022 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,790 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Fixed flexion at the elbow joint ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,944 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO PMID:26700687 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,266,830...100,341,728 		JBrowse link
G SEC16B SEC16 homolog B, endoplasmic reticulum export factor IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:177,928,788...177,984,284
Ensembl chr 1:177,923,956...177,984,303 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO PMID:27625873 MIM:121050 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO PMID:27543974 MIM:619303 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO PMID:27625873 MIM:121050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,577...46,736,347 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:27625873 MIM:121050 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:27625873 MIM:121050 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO MIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,884 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:18834968 MIM:612394 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO PMID:18834968 MIM:612394 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,687,352 		JBrowse link
G SPRTN SprT-like N-terminal domain IAGP HPO MIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
G SVIL supervillin IAGP HPO PMID:32779703 MIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,332...29,737,123 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO PMID:32776697 MIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,526 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO PMID:12116211 MIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO PMID:18834968 MIM:612394 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO PMID:27625873 MIM:121050 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO PMID:27625873 MIM:121050 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO PMID:27625873 MIM:121050 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TMEM222 transmembrane protein 222 IAGP HPO PMID:33824500 MIM:619470 NCBI chr 1:27,322,163...27,336,400
Ensembl chr 1:27,322,139...27,336,401 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO PMID:18834968 MIM:612394 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,519...105,776,629 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,681 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO PMID:29053766 MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO PMID:19232556 MIM:184252 MIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,713...47,215,173 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G WNT11 Wnt family member 11 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:76,186,325...76,210,761
Ensembl chr11:76,186,325...76,210,761 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO PMID:16826533 MIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,080...50,363,138 		JBrowse link
Fixed elbow flexion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,266...32,439,319 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
Generalized morning stiffness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRG4 proteoglycan 4 IAGP HPO MIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,270...186,314,567 		JBrowse link
Joint stiffness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta IAGP HPO ORPHA:2995 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP HPO ORPHA:2604 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,232...73,919,865 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO PMID:15368195 MIM:277600 ORPHA:3449 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP HPO PMID:19836009 MIM:613195 ORPHA:3449 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005 		JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO ORPHA:1901 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO PMID:21415077 MIM:231050 ORPHA:1901 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,522 		JBrowse link
G ADAMTSL4 ADAMTS like 4 IAGP HPO ORPHA:1885 NCBI chr 1:150,549,408...150,560,937
Ensembl chr 1:150,549,369...150,560,937 		JBrowse link
G ADRB3 adrenoceptor beta 3 IAGP DNA:missense mutation:cds:p.W64R (rs4994) RGD PMID:12739037 RGD:5684893 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AGA aspartylglucosaminidase IAGP HPO ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,444 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,348...104,799,934 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO ORPHA:816 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,647,291...19,685,760 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO ORPHA:2028 ORPHA:2176 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G ASPN asporin IAGP HPO MIM:607850 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,492,208 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO ORPHA:3197 NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,842,355 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP HPO PMID:21932319 MIM:614008 NCBI chr11:66,002,503...66,004,149
Ensembl chr11:66,002,228...66,004,170 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,049...7,881,728 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:2098 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,937...95,158,448 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,568...73,698,228 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO PMID:39414788 MIM:621099 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,456 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO MIM:208230 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CD244 CD244 molecule IAGP HPO PMID:27156434 MIM:180300 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,904 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO PMID:23023333 MIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO PMID:29514872 MIM:618167 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO PMID:27156434 MIM:180300 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,971...102,892,807 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,943 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:1899 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:1899 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO PMID:1975693 PMID:8434604 PMID:26183434 MIM:108300 MIM:604864 MIM:616583 ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:132400 ORPHA:750 ORPHA:93308 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,233...707,083
Ensembl chr11:644,224...707,118 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,909 		JBrowse link
G EMD emerin IAGP HPO ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,244...154,381,574 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP HPO ORPHA:1270 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,805...6,979,936 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,340 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,333...45,478,867 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,773...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:12525539 PMID:21683322 MIM:608328 MIM:614185 ORPHA:1885 ORPHA:2462 ORPHA:3449 ORPHA:969 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO ORPHA:3237 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:1860 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO ORPHA:1149 ORPHA:2771 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,782...18,258,772 		JBrowse link
G FLNA filamin A IAGP HPO MIM:314400 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO ORPHA:3027 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:2098 ORPHA:3237 ORPHA:968 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO ORPHA:3237 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO PMID:30187681 PMID:33558080 MIM:230500 MIM:230600 MIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP HPO ORPHA:3197 NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta IAGP HPO ORPHA:3197 NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,100...157,172,090 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:423461 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO PMID:20034096 MIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,442...64,759,446 		JBrowse link
G GPHN gephyrin IAGP HPO ORPHA:3197 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,706 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,452,463...74,602,619 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,144...74,851,611 		JBrowse link
G GTPBP2 GTP binding protein 2 IAGP HPO PMID:29449720 MIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G GUSB glucuronidase beta IAGP HPO PMID:26908836 MIM:253220 ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,165...120,682,385 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO PMID:20825431 MIM:252930 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,376...43,202,855 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:29207 ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,867...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:1525 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:296 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,224...208,266,095 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO ORPHA:296 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,490 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO PMID:22210666 PMID:22557905 MIM:607014 MIM:607015 ORPHA:93474 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G IL10 interleukin 10 IAGP HPO PMID:27156434 MIM:180300 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,176,676 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:2746 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,524...72,239,184 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:1300 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,254...209,806,217 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KIF5A kinesin family member 5A IAGP DNA:snp:intron:c.1717-152C>G (rs1678542)
DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) 		RGD PMID:23378462 PMID:21784728 RGD:12793072, RGD:12793073 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KRT83 keratin 83 IAGP HPO PMID:27965375 MIM:617756 NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO ORPHA:2182 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,511...153,886,204 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO MIM:166700 ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,342...65,248,355 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,527 		JBrowse link
G LMNA lamin A/C IAGP HPO PMID:12075506 MIM:248370 ORPHA:740 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:1366 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,840 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO PMID:22539340 MIM:614819 ORPHA:3449 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO ORPHA:969 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G MACROH2A1 macroH2A.1 histone IAGP HPO ORPHA:1275 NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,333,609...135,400,023 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,762 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase no_association IAGP DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618)
DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) 		RGD PMID:20676650 PMID:22505706 RGD:9588977, RGD:9588978 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,543 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:1762 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,012...73,842,539 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:2398 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO ORPHA:1040 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,631,665...1,635,263 		JBrowse link
G MMP9 matrix metallopeptidase 9 IAGP HPO ORPHA:1040 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTX2 metaxin 2 IAGP HPO PMID:32917887 MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO ORPHA:1146 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,181 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:1146 ORPHA:1147 ORPHA:2053 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO PMID:36608681 MIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,874...66,873,256 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:252920 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:1146 ORPHA:1147 ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,773...101,416,508 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,773,975...74,789,376 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP DNA:snp:promoter:c.-132T>A (rs2071592) HPO
RGD		 PMID:27156434 PMID:12509789 MIM:180300, RGD:1331681 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3237 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO ORPHA:40 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,787...177,300,213 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,094...132,295,315 		JBrowse link
G PAX3 paired box 3 IAGP HPO ORPHA:896 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO PMID:24387990 MIM:608940 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:1154 ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO ORPHA:1275 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO ORPHA:2771 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing IAGP HPO ORPHA:98810 NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO PMID:15792865 MIM:609308 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP HPO PMID:31883643 MIM:618820 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:98810 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP HPO MIM:609069 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:296 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,283...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,849 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,223,231...74,254,458 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:1824 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:2307 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO PMID:33308444 MIM:619184 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,859...35,253,080 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO ORPHA:245 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO MIM:252900 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO ORPHA:137834 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,531 		JBrowse link
G SHOX SHOX homeobox IAGP HPO ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP HPO PMID:27156434 MIM:180300 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,293,769...132,344,206 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:628 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP HPO ORPHA:3197 NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO PMID:22243968 PMID:24715504 MIM:139210 ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,680...110,606,048 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,570...191,178,435 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO PMID:25029335 MIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,528...139,482,935 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,205...73,719,691 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,936,995...32,001,045 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO ORPHA:392 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,276 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,681 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,952,055 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP HPO ORPHA:1146 ORPHA:1147 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO ORPHA:1146 ORPHA:1147 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,456...1,938,711 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:1146 ORPHA:1147 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:1216 ORPHA:2635 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO PMID:28258187 PMID:35977029 MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,244 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO PMID:20734427 MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO ORPHA:3027 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,854...115,698,224 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO ORPHA:209335 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,119...58,451,101 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,839...6,303,265 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,779...31,176,138 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Limitation of knee mobility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO PMID:26945816 MIM:228000 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO PMID:22052668 MIM:614856 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:183900 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO PMID:36943452 MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO PMID:12501223 MIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,165...120,682,385 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO PMID:29053766 MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
Limitation of movement at ankles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO ORPHA:100988 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:98794 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,874...28,099,664 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO ORPHA:98794 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,092 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Limited ankle dorsiflexion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO PMID:35112411 MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,564...50,526,461 		JBrowse link
Limited elbow extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO PMID:31575858 MIM:619719 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,295...44,114,565 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr15:72,474,330...72,602,987
Ensembl chr15:72,474,308...72,602,987 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,549...61,714,768 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO MIM:304150 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BGN biglycan IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 MIM:300106 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO PMID:21549340 MIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO PMID:7815423 MIM:121050 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO PMID:16782820 MIM:610313 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL27A1 collagen type XXVII alpha 1 chain IAGP HPO PMID:24986830 MIM:615155 NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO PMID:8723097 MIM:271700 ORPHA:1856 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,371...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO PMID:10090888 MIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,163 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:27432013 MIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO PMID:31705726 MIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,962...55,924,271 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,878,497 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO PMID:37352860 MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:216100 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO PMID:22177091 MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:123790 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:100800 MIM:146000 ORPHA:15 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FLNB filamin B IAGP HPO MIM:272460 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP HPO PMID:27108799 MIM:616973 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO PMID:22885700 MIM:300882 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G IPO8 importin 8 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,981...30,695,883 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO PMID:31091003 MIM:613385 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,674,396 		JBrowse link
G LBR lamin B receptor IAGP HPO PMID:23824842 MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,400,900...225,428,925 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO PMID:12624132 MIM:161200 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOX lysyl oxidase IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,634 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO PMID:32721402 MIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,755,537...21,867,680 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,165...85,545,281 		JBrowse link
G MATN3 matrilin 3 IAGP HPO PMID:15121775 MIM:608728 ORPHA:156728 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,672,519 		JBrowse link
G MMP13 matrix metallopeptidase 13 IAGP HPO MIM:602111 NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,375 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO PMID:21165303 PMID:22241092 PMID:23304577 PMID:31337854 PMID:32074972 More... MIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:7815423 MIM:121050 MIM:602875 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PMEPA1 prostate transmembrane protein, androgen induced 1 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr20:57,648,396...57,711,472
Ensembl chr20:57,648,392...57,711,536 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO PMID:30893644 MIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,532 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP HPO PMID:22652534 MIM:615222 NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO PMID:8444246 PMID:11370632 MIM:250250 MIM:607095 ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:30368667 MIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP HPO PMID:26365341 MIM:616723 ORPHA:457395 NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,479 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO PMID:22541558 MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO PMID:27355534 MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO PMID:7815423 MIM:121050 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,577...46,736,347 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO PMID:34626534 MIM:619745 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G STAG1 STAG1 cohesin complex component IAGP HPO ORPHA:502434 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,234...136,752,432 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO PMID:35904126 MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO PMID:8730285 PMID:33866394 MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
G TDO2 tryptophan 2,3-dioxygenase IAGP HPO MIM:600627 NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,414 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO PMID:30595499 MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,476 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO PMID:7815423 PMID:28050285 PMID:33436942 MIM:121050 MIM:154700 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO MIM:271510 ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,767...144,444,473 		JBrowse link
G YY1AP1 YY1 associated protein 1 IAGP HPO PMID:28050285 PMID:33436942 MIM:154700 NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,446...155,689,334 		JBrowse link
Limited elbow extension and supination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DVL1 dishevelled segment polarity protein 1 IAGP HPO PMID:24716670 MIM:180700 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,945 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO PMID:24716670 MIM:180700 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
Limited elbow flexion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 IAGP HPO MIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:98911 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:226900 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Limited elbow flexion/extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 IAGP HPO MIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
Limited elbow movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:23664117 MIM:271640 MIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP HPO PMID:21932319 MIM:614008 NCBI chr11:66,002,503...66,004,149
Ensembl chr11:66,002,228...66,004,170 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:183900 ORPHA:94068 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO PMID:21258343 MIM:265050 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,592,791...3,644,649 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO PMID:23236030 MIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,825...232,489,045 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO PMID:7668257 MIM:101200 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO PMID:36943452 MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FLNA filamin A IAGP HPO PMID:16835913 MIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,343 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:27068007 MIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:151100 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO PMID:15964893 MIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO MIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SHOX SHOX homeobox IAGP HPO MIM:127300 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:300590 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO PMID:17273969 PMID:25655089 MIM:610759 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,680...110,606,048 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
Limited hip extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO PMID:15215498 MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:20301660 MIM:177170 ORPHA:750 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DST dystonin IAGP HPO PMID:22522446 MIM:614653 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO PMID:35137569 MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,945 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:100800 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO PMID:27485408 MIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
Limited hip movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:183900 ORPHA:86820 ORPHA:93346 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:7670472 MIM:132400 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:321 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:321 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO PMID:36943452 MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO PMID:12501223 MIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,165...120,682,385 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MATN3 matrilin 3 IAGP HPO ORPHA:93311 NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,669 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO ORPHA:100988 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO ORPHA:79106 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:86820 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTN titin IAGP HPO ORPHA:178464 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Limited interphalangeal movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF9 fibroblast growth factor 9 IAGP HPO PMID:19589401 MIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO MIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Limited knee extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP HPO ORPHA:36387 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,295...44,114,565 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,549...61,714,768 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO MIM:304150 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BGN biglycan IAGP HPO PMID:7815423 MIM:121050 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO PMID:7815423 MIM:121050 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,371...189,012,746 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO PMID:10090888 MIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,163 		JBrowse link
G CPA6 carboxypeptidase A6 IAGP HPO ORPHA:36387 NCBI chr 8:67,422,038...67,746,360
Ensembl chr 8:67,422,038...67,746,378 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO PMID:31705726 MIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO PMID:33894126 MIM:619435 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DYM dymeclin IAGP HPO ORPHA:239 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,962...55,924,271 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,878,497 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO PMID:22177091 MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP HPO ORPHA:36387 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP HPO ORPHA:33069 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:36387 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:36387 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G IPO8 importin 8 IAGP HPO PMID:7815423 MIM:121050 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,981...30,695,883 		JBrowse link
G LOX lysyl oxidase IAGP HPO PMID:7815423 MIM:121050 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,634 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:7815423 MIM:121050 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO PMID:7815423 MIM:121050 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,672,519 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G PCDH19 protocadherin 19 IAGP HPO ORPHA:33069 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,296 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PMEPA1 prostate transmembrane protein, androgen induced 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr20:57,648,396...57,711,472
Ensembl chr20:57,648,392...57,711,536 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:36387 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,447...35,040,455 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO ORPHA:33069 ORPHA:36387 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO PMID:7815423 MIM:121050 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO PMID:7815423 MIM:121050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,577...46,736,347 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:7815423 MIM:121050 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G STX1B syntaxin 1B IAGP HPO ORPHA:36387 NCBI chr16:30,989,256...31,010,638
Ensembl chr16:30,989,256...31,010,672 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO PMID:7815423 MIM:121050 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO PMID:7815423 MIM:121050 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO PMID:7815423 MIM:121050 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
Limited knee flexion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECEL1 endothelin converting enzyme like 1 IAGP HPO PMID:23236030 MIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,825...232,489,045 		JBrowse link
G FLNA filamin A IAGP HPO MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,312...128,859,275 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:435387 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,671 		JBrowse link
Limited knee flexion/extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:98911 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
Limited pronation/supination of forearm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC10 collectin subfamily member 10 IAGP HPO ORPHA:293843 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO ORPHA:293843 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,592,791...3,644,649 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO MIM:605432 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO PMID:10976985 MIM:610967 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MASP1 MBL associated serine protease 1 IAGP HPO ORPHA:293843 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO PMID:26581901 MIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO PMID:30777867 MIM:620019 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,051...116,798,386 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO PMID:35344616 MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,240 		JBrowse link
G SMAD6 SMAD family member 6 IAGP HPO MIM:179300 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO PMID:16917909 MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,409,103 		JBrowse link
Limited shoulder movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP HPO PMID:27432013 MIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO PMID:23236030 MIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,825...232,489,045 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:20375004 MIM:184900 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO PMID:12501223 MIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,165...120,682,385 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO PMID:30478137 MIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,525 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO ORPHA:62 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,935 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO PMID:31206972 MIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Limited wrist extension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,132...15,521,928 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,113...49,133,118 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO PMID:23487782 MIM:108145 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
Limited wrist movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:27068007 MIM:617809 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,093 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO ORPHA:67036 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO MIM:147750 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SHOX SHOX homeobox IAGP HPO MIM:127300 ORPHA:240 NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Restricted chest movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,486...101,830,980 		JBrowse link
G KDM5A lysine demethylase 5A susceptibility IAGP DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) RGD PMID:24069348 RGD:9588532 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
Restricted large joint movement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93346 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP HPO MIM:309555 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
Scapulohumeral synostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSC goosecoid homeobox IAGP HPO PMID:24290375 MIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
Stiff ankle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
Stiff elbow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO PMID:12116211 MIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
Stiff hip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:199351 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
Stiff interphalangeal joints term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,049...7,881,728 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:266280 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
Stiff knee term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635
Ensembl chr19:13,712,244...13,734,635 		JBrowse link
Stiff neck term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO PMID:26183434 MIM:616583 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,689 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G LMNA lamin A/C IAGP HPO PMID:10939567 MIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:2177 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO PMID:14729820 MIM:618230 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,565 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO PMID:26908619 MIM:617022 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
Stiff shoulders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
Term paths to the root
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  Human phenotype 94017
    Phenotypic abnormality 93606
      Abnormality of the musculoskeletal system 15681
        Abnormal musculoskeletal physiology 2198
          Abnormal joint physiology 1912
            Abnormality of joint mobility 1879
              Limitation of joint mobility 502
                Ankylosis + 21
                Decreased movement range in interphalangeal joints 3
                Joint stiffness + 210
                Limitation of knee mobility + 65
                Limitation of movement at ankles + 8
                Limited elbow movement + 245
                Limited hip movement + 25
                Limited interphalangeal movement 3
                Limited shoulder movement + 13
                Limited wrist movement + 15
                Restricted chest movement 2
                Restricted large joint movement 2
                Scapulohumeral synostosis 1
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