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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:Joint hypermobility
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Accession:HP:0001382 term browser browse the term
Definition:The ability of a joint to move beyond its normal range of motion.
Synonyms:exact_synonym: Double-Jointed;   Extensible joints;   Flexible joints;   Hyperextensible joints;   Increased joint mobility;   Increased mobility of joints;   Joint hyperextensibility
 alt_id: HP:0001378;   HP:0005034
 xref: SNOMEDCT_US:298181000;   UMLS:C1844820



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Joint hypermobility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Flexible joints ClinVar PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532 NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ACTL6A actin like 6A IAGP ORPHA:528084 HPO NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407
JBrowse link
G ACTL6B actin like 6B IAGP ORPHA:528084 HPO NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
JBrowse link
G AEBP1 AE binding protein 1 IAGP ORPHA:536532 HPO NCBI chr 7:44,104,320...44,114,564
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G AGO2 argonaute RISC catalytic component 2 IAGP ORPHA:528084 HPO NCBI chr 8:140,520,156...140,642,406
Ensembl chr 8:140,520,156...140,635,633
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP OMIM:219150 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP OMIM:300990 HPO NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318
JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP OMIM:619504 HPO NCBI chr 4:73,073,376...73,259,766
Ensembl chr 4:73,073,376...73,258,798
JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP ORPHA:85410 HPO NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP OMIM:230740 HPO NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G ARF1 ADP ribosylation factor 1 IAGP ORPHA:98892 HPO NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,660...228,099,212
JBrowse link
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP ORPHA:98892 HPO NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Flexible joints ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G ATN1 atrophin 1 IAGP OMIM:618494 HPO NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP OMIM:300972 HPO NCBI chr  X:154,428,669...154,436,516
Ensembl chr  X:154,428,633...154,436,516
JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP OMIM:219200 OMIM:278250 HPO NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:3473 HPO NCBI chr 8:20,197,375...20,226,852
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G ATP7B ATPase copper transporting beta IAGP OMIM:277900 HPO NCBI chr13:51,932,669...52,012,130
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:536467 HPO 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 OMIM:245600 HPO NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A IAGP OMIM:617101 HPO NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G BCORL1 BCL6 corepressor like 1 IAGP ORPHA:528084 HPO NCBI chr  X:129,980,285...130,058,081
Ensembl chr  X:129,981,107...130,058,071
JBrowse link
G BGN biglycan IAGP OMIM:300989 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP OMIM:614856 HPO NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP ORPHA:528084 HPO NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:613706 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G C1S complement C1s IAGP OMIM:617174 HPO NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G CBL Cbl proto-oncogene IAGP OMIM:613563 HPO NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP ORPHA:528084 HPO NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,057
JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP OMIM:614205 HPO NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
JBrowse link
G CD247 CD247 molecule IAGP ORPHA:85410 HPO NCBI chr 1:167,430,640...167,518,542
Ensembl chr 1:167,430,640...167,518,610
JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP OMIM:617360 HPO NCBI chr 7:39,949,664...40,099,580
Ensembl chr 7:39,950,121...40,099,580
JBrowse link
G CFL2 cofilin 2 IAGP OMIM:610687 HPO NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
JBrowse link
G CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP OMIM:616579 HPO NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:245600 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G CNOT3 CCR4-NOT transcription complex subunit 3 IAGP ORPHA:528084 HPO NCBI chr19:54,137,689...54,155,690
Ensembl chr19:54,137,749...54,155,681
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:604841 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP OMIM:616470 ORPHA:536516 ORPHA:610 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP OMIM:166200
ClinVar Annotator: match by term: Double-Jointed
ClinVar Annotator: match by term: Joint hypermobility
HPO
ClinVar
PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 More... NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP OMIM:619120 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP DNA:deletion:exons: RGD PMID:12204008 RGD:8657352 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Joint hypermobility ClinVar PMID:25741868 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP OMIM:619329 HPO NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP OMIM:130010
ClinVar Annotator: match by term: Flexible joints
HPO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ORPHA:610 HPO NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ORPHA:610 HPO NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ORPHA:610 HPO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COLEC11 collectin subfamily member 11 IAGP OMIM:265050 HPO NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP OMIM:616229 HPO NCBI chr11:46,277,661...46,321,409
Ensembl chr11:46,277,662...46,321,409
JBrowse link
G CREBBP CREB binding protein IAGP OMIM:180849 HPO NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 IAGP OMIM:617062 HPO NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
JBrowse link
G CUL7 cullin 7 IAGP OMIM:273750 HPO NCBI chr 6:43,037,617...43,053,945
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ORPHA:528084 HPO NCBI chr11:118,747,763...118,791,696
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DHX30 DExH-box helicase 30 IAGP OMIM:617804 HPO NCBI chr 3:47,802,990...47,850,193
Ensembl chr 3:47,802,909...47,850,195
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96184 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP OMIM:617052 HPO NCBI chr 5:34,929,540...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ORPHA:404443 HPO NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DOCK3 dedicator of cytokinesis 3 IAGP ORPHA:528084 HPO NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198
JBrowse link
G DPYD dihydropyrimidine dehydrogenase IAGP ORPHA:293948 HPO NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP OMIM:619435 HPO NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Flexible joints ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,924,163
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP OMIM:614437 HPO NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP OMIM:619376 HPO NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
JBrowse link
G EP300 E1A binding protein p300 IAGP OMIM:180849 HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP ORPHA:98892 HPO NCBI chr 6:169,751,622...169,781,600
Ensembl chr 6:169,751,622...169,781,600
JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP OMIM:619013 HPO NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037
JBrowse link
G FBLN5 fibulin 5 IAGP OMIM:608895 HPO NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:154700 ORPHA:284979
ClinVar Annotator: match by term: Flexible joints
HPO
ClinVar
PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP ORPHA:528084 HPO NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873
JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP ORPHA:300179
ClinVar Annotator: match by term: Flexible joints
HPO
ClinVar
PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 More... NCBI chr 7:30,010,587...30,026,702
Ensembl chr 7:30,010,587...30,026,702
JBrowse link
G FKBP14-AS1 FKBP14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Flexible joints ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 More... NCBI chr 7:29,988,600...30,026,079 JBrowse link
G FLNA filamin A IAGP ORPHA:98892 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GAN gigaxonin IAGP ORPHA:643 HPO NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809
JBrowse link
G GDF11 growth differentiation factor 11 IAGP OMIM:619122 HPO NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ORPHA:3166 HPO NCBI chr 9:36,214,441...36,277,056
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 IAGP ORPHA:528084 HPO NCBI chr11:105,609,540...105,982,090
Ensembl chr11:105,609,994...105,982,092
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Flexible joints ClinVar PMID:25741868 PMID:28492532 NCBI chr12:13,537,337...13,982,012
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G GTPBP2 GTP binding protein 2 IAGP OMIM:617988 HPO NCBI chr 6:43,620,492...43,631,309
Ensembl chr 6:43,605,316...43,629,264
JBrowse link
G HEPHL1 hephaestin like 1 IAGP OMIM:261990 HPO NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP ORPHA:528084 HPO NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP ORPHA:528084 HPO NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
JBrowse link
G HTT huntingtin IAGP ORPHA:528084 HPO NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP ORPHA:528084 HPO NCBI chr  X:53,532,096...53,686,723
Ensembl chr  X:53,532,096...53,686,728
JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP OMIM:610967 HPO NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP OMIM:300143 HPO NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ORPHA:85410 HPO 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 ORPHA:85410 HPO NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,125,843...37,175,054
JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP ORPHA:528084 HPO NCBI chr 6:15,245,975...15,522,042
Ensembl chr 6:15,246,069...15,522,042
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP OMIM:610443 ORPHA:363958 ORPHA:363965 HPO NCBI chr17:46,027,335...46,225,370
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Increased joint mobility ClinVar PMID:25741868 NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KAT8 lysine acetyltransferase 8 IAGP ORPHA:528084 HPO NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP ORPHA:3473 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP ORPHA:528084 HPO NCBI chr10:76,869,602...77,637,969
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP ORPHA:3473 HPO NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP OMIM:619131 HPO NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190
JBrowse link
G KDM1A lysine demethylase 1A IAGP OMIM:616728 HPO NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
G KDM3B lysine demethylase 3B IAGP OMIM:618846 HPO NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
JBrowse link
G KDM4B lysine demethylase 4B IAGP ORPHA:528084 HPO NCBI chr19:4,969,087...5,153,603
Ensembl chr19:4,969,113...5,153,598
JBrowse link
G KDM6A lysine demethylase 6A IAGP OMIM:147920 HPO NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KDM6B lysine demethylase 6B IAGP OMIM:618505 HPO NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP OMIM:147920 HPO NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KMT2E lysine methyltransferase 2E (inactive) IAGP ORPHA:528084 HPO NCBI chr 7:104,940,949...105,115,019
Ensembl chr 7:104,940,943...105,115,019
JBrowse link
G LMNB2 lamin B2 IAGP OMIM:619180 HPO NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
JBrowse link
G LOX lysyl oxidase IAGP OMIM:617168 HPO NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP OMIM:259770 HPO NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MADD MAP kinase activating death domain IAGP ORPHA:528084 HPO NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
JBrowse link
G MAMLD1 mastermind like domain containing 1 IAGP ORPHA:456328 HPO NCBI chr  X:150,361,564...150,514,178
Ensembl chr  X:150,361,422...150,514,178
JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ORPHA:397941 HPO NCBI chr 9:137,086,941...137,109,183
Ensembl chr 9:137,086,857...137,109,189
JBrowse link
G MAP1B microtubule associated protein 1B IAGP ORPHA:98892 HPO NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IAGP associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A RGD PMID:31784499 RGD:150340677 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP ORPHA:528084 HPO NCBI chr16:1,706,183...1,770,351
Ensembl chr16:1,706,166...1,770,351
JBrowse link
G MED12 mediator complex subunit 12 IAGP OMIM:300895 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MED13 mediator complex subunit 13 IAGP ORPHA:528084 HPO NCBI chr17:61,942,605...62,065,983
Ensembl chr17:61,942,605...62,065,278
JBrowse link
G MED27 mediator complex subunit 27 IAGP ORPHA:528084 HPO NCBI chr 9:131,860,110...132,079,867
Ensembl chr 9:131,852,928...132,079,867
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96184 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MTM1 myotubularin 1 IAGP ORPHA:456328 HPO NCBI chr  X:150,562,658...150,673,143
Ensembl chr  X:150,568,417...150,673,143
JBrowse link
G MYT1L myelin transcription factor 1 like IAGP ORPHA:528084 HPO NCBI chr 2:1,789,113...2,331,388
Ensembl chr 2:1,789,113...2,331,664
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ORPHA:98892 HPO NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP OMIM:618853 HPO NCBI chr 3:113,002,444...113,019,721
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
G NF1 neurofibromin 1 IAGP ORPHA:363700 HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NGLY1 N-glycanase 1 IAGP ORPHA:404454 HPO NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
JBrowse link
G NOTCH3 notch receptor 3 IAGP OMIM:130720 HPO NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:300831 ORPHA:251383
ClinVar Annotator: match by term: Flexible joints
HPO
ClinVar
PMID:25741868 NCBI chr  X:152,831,001...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G NTNG1 netrin G1 IAGP ORPHA:528084 HPO NCBI chr 1:107,140,017...107,484,923
Ensembl chr 1:107,140,007...107,484,923
JBrowse link
G NTNG2 netrin G2 IAGP ORPHA:528084 HPO NCBI chr 9:132,161,234...132,244,534
Ensembl chr 9:132,162,058...132,244,526
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP OMIM:309000 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP OMIM:613800 HPO NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
JBrowse link
G PALS1 protein associated with LIN7 1, MAGUK p55 family member IAGP ORPHA:528084 HPO NCBI chr14:67,241,395...67,336,061
Ensembl chr14:67,240,713...67,336,061
JBrowse link
G PGM3 phosphoglucomutase 3 IAGP OMIM:615816 HPO NCBI chr 6:83,150,728...83,193,900
Ensembl chr 6:83,161,150...83,193,936
JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP OMIM:617991 HPO NCBI chr 6:78,934,419...79,078,294
Ensembl chr 6:78,934,419...79,078,254
JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP OMIM:617599 HPO NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP ORPHA:369837 HPO NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP OMIM:618590 HPO NCBI chr20:34,560,542...34,677,103
Ensembl chr20:34,560,542...34,698,790
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Joint hyperextensibility ClinVar PMID:25741868 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ORPHA:3455 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,975,149...78,029,515
JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP OMIM:617506 HPO NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP OMIM:616362 HPO NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,190,048...52,229,518
JBrowse link
G PRDM5 PR/SET domain 5 IAGP OMIM:614170 HPO NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP ORPHA:528084 HPO NCBI chr17:67,337,916...67,366,598
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP ORPHA:85410 HPO NCBI chr18:12,785,478...12,884,351
Ensembl chr18:12,785,478...12,929,643
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:85410 HPO NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP ORPHA:528084 HPO NCBI chr 3:47,381,001...47,413,435
Ensembl chr 3:47,381,011...47,413,435
JBrowse link
G PUS7 pseudouridine synthase 7 IAGP ORPHA:528084 HPO NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271
JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP OMIM:612940 HPO NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP OMIM:617258 HPO NCBI chr12:21,437,630...21,471,250
Ensembl chr12:21,437,615...21,471,250
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP OMIM:600118 HPO NCBI chr 2:135,052,281...135,176,667
Ensembl chr 2:135,052,289...135,176,667
JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Flexible joints
ClinVar Annotator: match by term: Joint hypermobility
ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP OMIM:613075 ORPHA:217335 HPO NCBI chr20:19,757,610...20,002,456
Ensembl chr20:19,757,606...20,002,457
JBrowse link
G RLIM ring finger protein, LIM domain interacting IAGP ORPHA:528084 HPO NCBI chr  X:74,582,976...74,614,624
Ensembl chr  X:74,582,976...74,614,624
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP OMIM:250250 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96184 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SATB1 SATB homeobox 1 IAGP ORPHA:528084 HPO NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,588
JBrowse link
G SATB2 SATB homeobox 2 IAGP ORPHA:576283 HPO NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP OMIM:619184 HPO NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
JBrowse link
G SET SET nuclear proto-oncogene IAGP OMIM:618106 HPO NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
JBrowse link
G SETBP1 SET binding protein 1 IAGP ClinVar Annotator: match by term: Increased joint mobility ClinVar PMID:25741868 NCBI chr18:44,680,072...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase IAGP OMIM:619056 HPO NCBI chr16:30,956,618...30,984,664
Ensembl chr16:30,957,754...30,984,664
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP OMIM:606232 HPO NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,298
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP ORPHA:500166 HPO NCBI chr15:75,369,379...75,455,819
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G SIN3B SIN3 transcription regulator family member B IAGP ORPHA:500166 HPO NCBI chr19:16,829,398...16,880,355
Ensembl chr19:16,829,398...16,880,353
JBrowse link
G SKI SKI proto-oncogene IAGP OMIM:182212 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP ORPHA:528084 HPO NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ORPHA:356961 HPO NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958
JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP OMIM:616721 HPO NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP OMIM:300352 HPO NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588
JBrowse link
G SON SON DNA and RNA binding protein IAGP OMIM:617140 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G SPART spartin IAGP ORPHA:101000 HPO NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP OMIM:147060 HPO NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:85410 HPO NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G SVBP small vasohibin binding protein IAGP ORPHA:528084 HPO NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP OMIM:300966 ORPHA:480907 HPO NCBI chr  X:71,366,220...71,530,525
Ensembl chr  X:71,366,222...71,532,374
JBrowse link
G TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 IAGP OMIM:618906 ORPHA:528084 HPO NCBI chr17:62,966,235...63,427,706
Ensembl chr17:62,966,235...63,427,703
JBrowse link
G TCF20 transcription factor 20 IAGP ORPHA:528084 HPO NCBI chr22:42,160,013...42,283,927
Ensembl chr22:42,160,013...42,343,616
JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP OMIM:617952 HPO NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP OMIM:618798 HPO NCBI chr 2:73,982,036...74,135,394
Ensembl chr 2:73,984,910...74,108,176
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP OMIM:615582 HPO NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TLK2 tousled like kinase 2 IAGP OMIM:618050 HPO NCBI chr17:62,470,908...62,615,481
Ensembl chr17:62,458,658...62,615,481
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP OMIM:213980 HPO NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP ORPHA:98892 HPO NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B IAGP OMIM:619243 HPO NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808
JBrowse link
G TNXB tenascin XB IAGP OMIM:606408 OMIM:615963 HPO NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP OMIM:619185 HPO NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP ORPHA:528084 HPO NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRIP12 thyroid hormone receptor interactor 12 IAGP ORPHA:528084 HPO NCBI chr 2:229,763,837...229,923,234
Ensembl chr 2:229,763,837...229,923,239
JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP ORPHA:528084 HPO NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Flexible joints ClinVar PMID:28492532 PMID:30311386 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ORPHA:528084 HPO NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP OMIM:618323 HPO NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP OMIM:216550
ClinVar Annotator: match by term: Increased joint mobility
HPO
ClinVar
PMID:15173253 PMID:25741868 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G WASF1 WASP family member 1 IAGP ORPHA:528084 HPO NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
JBrowse link
G WDFY3 WD repeat and FYVE domain containing 3 IAGP ORPHA:528084 HPO NCBI chr 4:84,669,597...84,966,690
Ensembl chr 4:84,669,597...84,966,690
JBrowse link
G WDR19 WD repeat domain 19 IAGP OMIM:614378 HPO NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WNT1 Wnt family member 1 IAGP OMIM:615220 HPO NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP OMIM:619418 HPO NCBI chr 1:32,775,238...32,817,385
Ensembl chr 1:32,775,237...32,817,380
JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP ORPHA:528084 HPO NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519
JBrowse link
G ZNF341 zinc finger protein 341 IAGP OMIM:618282 HPO NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Flexible joints ClinVar PMID:25741868 NCBI chr16:88,382,959...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Finger joint hypermobility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ORPHA:93308 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP OMIM:618870 HPO NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP OMIM:615225 HPO NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,427...5,619,424
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP OMIM:618493 HPO NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
JBrowse link
G RNF13 ring finger protein 13 IAGP ORPHA:544503 HPO NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
JBrowse link
G YY1 YY1 transcription factor IAGP ORPHA:506358 HPO NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
JBrowse link
Hip joint hypermobility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
Hyperextensibility at elbow term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain IAGP OMIM:130000 HPO NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperextensibility at elbow ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP OMIM:610967 HPO NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ORPHA:319182 HPO NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
JBrowse link
G SON SON DNA and RNA binding protein IAGP ORPHA:500150 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Hyperextensibility at elbow ClinVar PMID:28492532 PMID:30311386 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Hyperextensibility at wrists term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP ORPHA:75840 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP OMIM:254090 ORPHA:75840 HPO NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP OMIM:254090 ORPHA:75840 HPO NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP OMIM:254090 ORPHA:75840 HPO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP ORPHA:481152 HPO NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
JBrowse link
G RNF13 ring finger protein 13 IAGP ORPHA:544503 HPO NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
JBrowse link
Hyperextensibility of the finger joints term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM:115150 HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP OMIM:617821 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP OMIM:130000 HPO NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Finger joint hyperextensibility ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:616914 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP OMIM:305400 HPO NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G GNB2 G protein subunit beta 2 IAGP OMIM:619503 HPO NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G GORAB golgin, RAB6 interacting IAGP OMIM:231070 HPO NCBI chr 1:170,532,134...170,553,834
Ensembl chr 1:170,531,819...170,553,834
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP OMIM:218040 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP OMIM:610967 HPO NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP OMIM:135500 HPO NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G NFASC neurofascin IAGP OMIM:618356 HPO NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822
JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP ORPHA:505237 HPO NCBI chr 8:91,070,305...91,087,095
Ensembl chr 8:91,070,196...91,087,095
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G IAGP ORPHA:488635 HPO NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP OMIM:618821 HPO NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
JBrowse link
G PLAA phospholipase A2 activating protein IAGP ORPHA:521426 HPO NCBI chr 9:26,903,372...26,947,267
Ensembl chr 9:26,903,372...26,947,242
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP OMIM:151050 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP OMIM:303600 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SMS spermine synthase IAGP OMIM:309583 HPO NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837
JBrowse link
Hyperextensible hand joints term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Hyperextensible hand joints ClinVar PMID:25535305 PMID:25741868 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperextensible hand joints ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ORPHA:457395 HPO NCBI chr16:57,186,137...57,240,473
Ensembl chr16:57,186,137...57,240,469
JBrowse link
G SON SON DNA and RNA binding protein IAGP ORPHA:500150 HPO NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G SPART spartin IAGP OMIM:275900 HPO NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Hyperextensible hand joints ClinVar PMID:28492532 PMID:30311386 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Hyperextensible thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ORPHA:480880 HPO NCBI chr  X:41,085,420...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
Hypermobility of distal interphalangeal joints term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain IAGP ORPHA:230851 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
Hypermobility of interphalangeal joints term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP OMIM:130050 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508498 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
Increased laxity of fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP ORPHA:75840 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP OMIM:254090 ORPHA:75840 HPO NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP OMIM:254090 ORPHA:75840 HPO NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP OMIM:254090 ORPHA:75840 HPO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COMP cartilage oligomeric matrix protein IAGP ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
Joint hyperflexibility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 IAGP ORPHA:648 HPO NCBI chr12:8,822,554...8,887,202
Ensembl chr12:8,822,621...8,887,001
JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP ORPHA:758 HPO NCBI chr16:16,149,565...16,223,617
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ORPHA:965 ORPHA:966 HPO NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ABHD11 abhydrolase domain containing 11 IAGP ORPHA:904 HPO NCBI chr 7:73,736,094...73,738,866
Ensembl chr 7:73,736,094...73,738,852
JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP ORPHA:1901 HPO 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 ORPHA:1901 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ORPHA:90348 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP ORPHA:2067 HPO NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ORPHA:567 HPO NCBI chr22:19,966,727...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:198 ORPHA:565 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G ATR ATR serine/threonine kinase IAGP ORPHA:808 HPO NCBI chr 3:142,449,235...142,578,793
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G ATRIP ATR interacting protein IAGP ORPHA:808 HPO NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP ORPHA:75496 HPO NCBI chr 5:177,600,102...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP ORPHA:904 HPO NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP ORPHA:904 HPO NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ORPHA:261330 HPO NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP ORPHA:904 HPO NCBI chr 7:73,683,571...73,698,212
Ensembl chr 7:73,683,025...73,705,161
JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ORPHA:1777 HPO NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
JBrowse link
G C1R complement C1r IAGP ORPHA:75392 HPO NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP ORPHA:75392 HPO NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP ORPHA:1425 HPO NCBI chr17:78,991,716...79,009,793
Ensembl chr17:78,991,716...79,009,867
JBrowse link
G CBL Cbl proto-oncogene IAGP ORPHA:648 HPO NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCDC8 coiled-coil domain containing 8 IAGP ORPHA:2616 HPO NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
JBrowse link
G CDC45 cell division cycle 45 IAGP ORPHA:2554 HPO NCBI chr22:19,479,294...19,520,612
Ensembl chr22:19,479,457...19,520,612
JBrowse link
G CDC6 cell division cycle 6 IAGP ORPHA:2554 HPO NCBI chr17:40,287,878...40,304,657
Ensembl chr17:40,287,879...40,304,657
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP ORPHA:2554 HPO NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
JBrowse link
G CENPE centromere protein E IAGP ORPHA:808 HPO NCBI chr 4:103,105,811...103,198,408
Ensembl chr 4:103,105,349...103,198,445
JBrowse link
G CENPJ centromere protein J IAGP ORPHA:808 HPO NCBI chr13:24,882,279...24,922,889
Ensembl chr13:24,882,279...24,922,889
JBrowse link
G CEP152 centrosomal protein 152 IAGP ORPHA:808 HPO NCBI chr15:48,662,534...48,811,904
Ensembl chr15:48,712,928...48,811,146
JBrowse link
G CLDN3 claudin 3 IAGP ORPHA:904 HPO NCBI chr 7:73,768,997...73,770,270
Ensembl chr 7:73,768,997...73,770,270
JBrowse link
G CLDN4 claudin 4 IAGP ORPHA:904 HPO NCBI chr 7:73,830,996...73,832,690
Ensembl chr 7:73,799,542...73,832,690
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP ORPHA:904 HPO NCBI chr 7:74,289,407...74,405,943
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ORPHA:250984 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ORPHA:1571 HPO NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ORPHA:1899 HPO NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP ORPHA:1899 HPO NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:90653
DNA:deletion:exon:g.33524_33526delC
HPO
RGD
PMID:7487609 RGD:8657393 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ORPHA:2500 ORPHA:286 HPO NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP ORPHA:250984 HPO NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP ORPHA:250984 HPO NCBI chr 1:40,300,487...40,317,653
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ORPHA:250984 HPO NCBI chr20:62,817,050...62,841,159
Ensembl chr20:62,816,244...62,841,159
JBrowse link
G COMT catechol-O-methyltransferase IAGP ORPHA:567 HPO NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP ORPHA:261330 HPO NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G CTNND2 catenin delta 2 IAGP ORPHA:281 HPO NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
JBrowse link
G CUL4B cullin 4B IAGP ORPHA:85293 HPO NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074
JBrowse link
G CUL7 cullin 7 IAGP ORPHA:2616 HPO NCBI chr 6:43,037,617...43,053,945
Ensembl chr 6:43,037,617...43,053,943
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP ORPHA:2162 HPO NCBI chr 1:222,814,514...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP ORPHA:904 HPO NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G EED embryonic ectoderm development IAGP ORPHA:3447 HPO NCBI chr11:86,244,753...86,285,420
Ensembl chr11:86,244,753...86,278,813
JBrowse link
G EFNB1 ephrin B1 IAGP ORPHA:1520 HPO NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP ORPHA:904 HPO NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP ORPHA:90348 ORPHA:904 HPO NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ORPHA:758 HPO NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP ORPHA:502 HPO NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP ORPHA:3447 HPO NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FBLN5 fibulin 5 IAGP ORPHA:90348 HPO NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FBN1 fibrillin 1 IAGP ORPHA:2462 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP ORPHA:915 HPO NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ORPHA:2162 HPO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ORPHA:2162 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:429 ORPHA:93274 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP ORPHA:904 HPO NCBI chr 7:73,328,154...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FLNA filamin A IAGP ORPHA:2484 ORPHA:75497 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FLNB filamin B IAGP ORPHA:503 HPO NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G GDF5 growth differentiation factor 5 IAGP ORPHA:63442 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ORPHA:2162 HPO NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP ORPHA:2554 HPO NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G GORAB golgin, RAB6 interacting IAGP ORPHA:2078 HPO NCBI chr 1:170,532,134...170,553,834
Ensembl chr 1:170,531,819...170,553,834
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP ORPHA:567 HPO NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GTF2I general transcription factor IIi IAGP ORPHA:904 HPO NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP ORPHA:904 HPO NCBI chr 7:74,453,906...74,603,070
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP ORPHA:904 HPO NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HDAC4 histone deacetylase 4 IAGP ORPHA:1001 HPO NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HIRA histone cell cycle regulator IAGP ORPHA:567 HPO NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HNF1B HNF1 homeobox B IAGP ORPHA:93111 HPO NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:93387 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ORPHA:3071 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G IFT122 intraflagellar transport 122 IAGP ORPHA:1515 HPO NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT43 intraflagellar transport 43 IAGP ORPHA:1515 HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP ORPHA:1515 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP ORPHA:567 HPO NCBI chr10:63,167,221...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ORPHA:3047 HPO NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP ORPHA:666 HPO NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190
JBrowse link
G KDM6A lysine demethylase 6A IAGP ORPHA:2322 HPO NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ORPHA:2322 HPO NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ORPHA:648 HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LAT2 linker for activation of T cells family member 2 IAGP ORPHA:904 HPO NCBI chr 7:74,210,006...74,229,834
Ensembl chr 7:74,199,652...74,229,834
JBrowse link
G LIG4 DNA ligase 4 IAGP ORPHA:235 HPO NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP ORPHA:904 HPO NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LMNA lamin A/C IAGP ORPHA:157973 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP ORPHA:1458 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G LOXL3 lysyl oxidase like 3 IAGP ORPHA:250984 HPO NCBI chr 2:74,532,258...74,555,719
Ensembl chr 2:74,532,258...74,555,690
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 IAGP ORPHA:648 HPO NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ORPHA:261330 HPO NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP ORPHA:666 HPO NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:776 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G METTL27 methyltransferase like 27 IAGP ORPHA:904 HPO NCBI chr 7:73,834,590...73,842,527
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MLXIPL MLX interacting protein like IAGP ORPHA:904 HPO NCBI chr 7:73,593,201...73,624,522
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MRAS muscle RAS oncogene homolog IAGP ORPHA:648 HPO NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:904 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NFIX nuclear factor I X IAGP ORPHA:561 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NOTCH2 notch receptor 2 IAGP ORPHA:955 HPO NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NOTCH3 notch receptor 3 IAGP ORPHA:2789 HPO NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ORPHA:40 HPO NCBI chr 9:35,782,086...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ORPHA:648 HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:3447 HPO NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP ORPHA:235 HPO NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G OBSL1 obscurin like cytoskeletal adaptor 1 IAGP ORPHA:2616 HPO NCBI chr 2:219,549,408...219,571,573
Ensembl chr 2:219,550,728...219,571,859
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ORPHA:534 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP ORPHA:2554 HPO NCBI chr 1:52,372,829...52,404,446
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP ORPHA:2554 HPO NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP ORPHA:2554 HPO NCBI chr16:46,689,656...46,698,394
Ensembl chr16:46,689,643...46,698,394
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP ORPHA:2050 HPO NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,159...81,860,856
JBrowse link
G PAX2 paired box 2 IAGP ORPHA:1475 HPO NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G PCNT pericentrin IAGP ORPHA:2637 ORPHA:808 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PHF6 PHD finger protein 6 IAGP ORPHA:127 HPO NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ORPHA:60040 HPO NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ORPHA:3163 HPO NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PLK4 polo like kinase 4 IAGP ORPHA:808 HPO NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ORPHA:1900 HPO NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ORPHA:90354 HPO NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G PTCH1 patched 1 IAGP ORPHA:77301 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP ORPHA:2658 HPO NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ORPHA:109 HPO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTHLH parathyroid hormone like hormone IAGP ORPHA:93387 HPO NCBI chr12:27,958,084...27,972,864
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ORPHA:648 HPO NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP ORPHA:2078 HPO NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ORPHA:648 HPO NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP ORPHA:648 HPO NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP ORPHA:808 HPO NCBI chr18:22,914,121...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G RFC2 replication factor C subunit 2 IAGP ORPHA:904 HPO NCBI chr 7:74,231,502...74,254,452
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ORPHA:648 HPO NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP ORPHA:175 HPO NCBI chr 9:35,657,751...35,658,018
Ensembl chr 9:35,657,754...35,658,017
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G RRAS RAS related IAGP ORPHA:648 HPO NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
JBrowse link
G RRAS2 RAS related 2 IAGP ORPHA:648 HPO NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP ORPHA:567 HPO NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:178145 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SATB2 SATB homeobox 2 IAGP ORPHA:251019 HPO NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP ORPHA:50814 HPO NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP ORPHA:567 HPO NCBI chr10:73,744,164...73,772,167
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP ORPHA:2050 HPO NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
G SEMA5A semaphorin 5A IAGP ORPHA:281 HPO NCBI chr 5:9,035,030...9,546,121
Ensembl chr 5:9,035,033...9,546,075
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:2162 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP ORPHA:2162 HPO NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:2462 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:628 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ORPHA:3342 HPO NCBI chr20:46,708,358...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ORPHA:52503 HPO NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588
JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ORPHA:85278 HPO NCBI chr  X:135,974,596...136,047,269
Ensembl chr  X:135,973,841...136,047,269
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP ORPHA:1106 HPO NCBI chr14:69,879,388...70,032,366
Ensembl chr14:69,854,131...70,032,366
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ORPHA:648 HPO NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP ORPHA:648 HPO NCBI chr14:50,117,130...50,231,578
Ensembl chr14:50,117,130...50,231,578
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:2314 HPO NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STIL STIL centriolar assembly protein IAGP ORPHA:2162 HPO NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G STX1A syntaxin 1A IAGP ORPHA:904 HPO NCBI chr 7:73,699,210...73,719,673
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ORPHA:3447 HPO NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP ORPHA:228410 HPO NCBI chr 6:149,217,926...149,411,611
Ensembl chr 6:149,218,641...149,411,613
JBrowse link
G TBL2 transducin beta like 2 IAGP ORPHA:904 HPO NCBI chr 7:73,567,537...73,578,605
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TBX1 T-box transcription factor 1 IAGP ORPHA:567 HPO NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP ORPHA:666 HPO NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP ORPHA:1388 HPO NCBI chr13:94,574,054...94,596,274
Ensembl chr13:94,574,054...94,596,242
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP OMIM:614816 HPO NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ORPHA:60030 HPO NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ORPHA:60030 HPO NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TMEM270 transmembrane protein 270 IAGP ORPHA:904 HPO NCBI chr 7:73,860,848...73,865,892
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TNXB tenascin XB IAGP ORPHA:230839 HPO NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G TRAIP TRAF interacting protein IAGP ORPHA:808 HPO NCBI chr 3:49,828,595...49,856,584
Ensembl chr 3:49,828,601...49,856,574
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP ORPHA:166272 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:502 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP ORPHA:238446 HPO NCBI chr15:25,333,728...25,439,381
Ensembl chr15:25,333,728...25,439,051
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP ORPHA:567 HPO NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP ORPHA:776 HPO NCBI chr  X:119,805,311...119,853,028
Ensembl chr  X:119,805,311...119,852,998
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP OMIM:300919 HPO NCBI chr  X:41,085,420...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ORPHA:193 HPO NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP ORPHA:319199 HPO NCBI chr 8:17,246,903...17,333,455
Ensembl chr 8:17,246,931...17,302,427
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP ORPHA:904 HPO NCBI chr 7:73,665,346...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WASF1 WASP family member 1 IAGP OMIM:618707 HPO NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
JBrowse link
G WDR19 WD repeat domain 19 IAGP ORPHA:1515 HPO NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP ORPHA:1515 HPO NCBI chr 2:19,910,260...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP ORPHA:1425 HPO NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
G XYLT2 xylosyltransferase 2 IAGP ORPHA:85194 HPO NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP ORPHA:776 HPO NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
G ZIC2 Zic family member 2 IAGP ORPHA:2162 HPO NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
G ZNF469 zinc finger protein 469 IAGP ORPHA:90354 HPO NCBI chr16:88,382,959...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Knee joint hypermobility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COMP cartilage oligomeric matrix protein IAGP ORPHA:93308 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:2614 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ORPHA:329967 HPO NCBI chr16:3,242,027...3,256,776
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP ORPHA:329967 HPO NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
Proximal finger joint hyperextensibility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP ORPHA:2614 HPO NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14417
    Phenotypic abnormality 14415
      Abnormality of the musculoskeletal system 3908
        Abnormality of the skeletal system 3217
          Abnormality of musculoskeletal physiology 1539
            Abnormality of joint mobility 1230
              Joint hypermobility 367
                Finger joint hypermobility + 31
                Hip joint hypermobility 1
                Hyperextensibility at elbow 6
                Hyperextensibility at wrists 6
                Hyperextensible hand joints + 7
                Hypermobility of interphalangeal joints + 3
                Joint hyperflexibility 185
                Knee joint hypermobility 5
paths to the root