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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 contracture of the hand
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Accession:HP:0009473 term browser browse the term
Definition:Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Synonyms:exact_synonym: Contractures involving the hands;   Contractures of the hands
 alt_id: HP:0001160;   HP:0001237;   HP:0004094;   HP:0005814;   HP:0006096;   HP:0006173;   HP:0006215;   HP:0006238;   HP:0006255;   HP:0009409;   HP:0009472;   HP:0010563
 xref: MEDDRA:10010821 "Contracture of hand joint";   SNOMEDCT_US:86414002;   UMLS:C0158113



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Joint contracture of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL2 ADAMTS like 2 IAGP OMIM:231050 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP OMIM:601110 HPO NCBI chr 3:184,242,301...184,258,301
Ensembl chr 3:184,242,301...184,249,548
JBrowse link
G ALX3 ALX homeobox 3 IAGP OMIM:136760 HPO NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP OMIM:300373 HPO NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G BCOR BCL6 corepressor IAGP OMIM:309800 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CAV1 caveolin 1 IAGP ORPHA:220402 HPO NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP OMIM:235510 HPO NCBI chr18:59,430,939...59,698,181
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CCN2 cellular communication network factor 2 IAGP ORPHA:220402 HPO NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCN6 cellular communication network factor 6 IAGP ORPHA:1159 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP ORPHA:220402 HPO NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,696
JBrowse link
G CDH3 cadherin 3 IAGP OMIM:225280 HPO NCBI chr16:68,644,914...68,727,573
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G CNTN1 contactin 1 IAGP OMIM:612540 HPO NCBI chr12:40,692,429...41,072,415
Ensembl chr12:40,692,439...41,072,415
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP OMIM:228520 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP OMIM:602398 HPO NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP OMIM:214150 HPO 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 OMIM:277590 HPO NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP OMIM:610474 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP OMIM:300280 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G FLVCR1 FLVCR heme transporter 1 IAGP OMIM:609033 HPO NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP OMIM:175700 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP OMIM:616395 HPO NCBI chr 6:158,168,316...158,199,344
Ensembl chr 6:158,168,350...158,199,344
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:220402 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186300 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP OMIM:618523 HPO NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ORPHA:220402 HPO NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
JBrowse link
G KIAA0319L KIAA0319 like IAGP ORPHA:220402 HPO NCBI chr 1:35,433,490...35,557,603
Ensembl chr 1:35,433,492...35,557,950
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP OMIM:608840 HPO NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G MED12 mediator complex subunit 12 IAGP OMIM:305450 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,556...71,142,454
JBrowse link
G MYBPC1 myosin binding protein C1 IAGP OMIM:614335 HPO NCBI chr12:101,594,849...101,695,841
Ensembl chr12:101,568,353...101,686,028
JBrowse link
G MYH3 myosin heavy chain 3 IAGP OMIM:193700 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP OMIM:309800 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
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 ORC1 origin recognition complex subunit 1 IAGP OMIM:224690 HPO NCBI chr 1:52,372,829...52,404,446
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G PAX3 paired box 3 IAGP OMIM:148820 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP OMIM:214110 HPO NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP OMIM:256520 HPO NCBI chr 1:119,711,934...119,744,218
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:248700 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP OMIM:280000 HPO NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP OMIM:611067 HPO NCBI chr 1:6,466,092...6,520,092
Ensembl chr 1:6,467,122...6,520,074
JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ORPHA:90658 HPO NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP OMIM:201750 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP OMIM:309500 HPO NCBI chr  X:48,897,862...48,903,143
Ensembl chr  X:48,890,197...48,903,143
JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP ORPHA:456312 HPO NCBI chr17:59,697,306...59,707,626
Ensembl chr17:59,674,636...59,707,626
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP OMIM:201000 HPO NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:113000 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP OMIM:600920 HPO NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
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 SLC39A13 solute carrier family 39 member 13 IAGP OMIM:612350 HPO NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G TBX15 T-box transcription factor 15 IAGP OMIM:260660 HPO NCBI chr 1:118,883,046...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP OMIM:610168 HPO NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TP63 tumor protein p63 IAGP OMIM:603543 HPO NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:108120 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP OMIM:600638 HPO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
G UROS uroporphyrinogen III synthase IAGP OMIM:263700 HPO NCBI chr10:125,784,980...125,823,280
Ensembl chr10:125,784,980...125,823,258
JBrowse link
G WDR73 WD repeat domain 73 IAGP OMIM:251300 HPO NCBI chr15:84,639,285...84,654,290
Ensembl chr15:84,639,285...84,654,343
JBrowse link
Bilateral camptodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP ORPHA:821 HPO NCBI chr19:1,446,268...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP OMIM:265000 HPO NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:821 HPO NCBI chr 5:177,131,835...177,300,213
Ensembl chr 5:177,133,025...177,300,213
JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP OMIM:619234 HPO NCBI chr 1:145,959,037...145,978,848
Ensembl chr 1:145,964,690...145,978,848
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ORPHA:821 HPO NCBI chr 3:47,016,431...47,164,113
Ensembl chr 3:47,016,429...47,164,113
JBrowse link
Camptodactyly of 2nd-5th fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Camptodactyly of 2nd-5th fingers ClinVar PMID:17561957 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP OMIM:206920 ORPHA:1106 HPO NCBI chr14:69,879,388...70,032,366
Ensembl chr14:69,854,131...70,032,366
JBrowse link
Camptodactyly of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP ORPHA:2604 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP ORPHA:2136 HPO NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP OMIM:231050 HPO NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
JBrowse link
G ALX1 ALX homeobox 1 IAGP ORPHA:306542 HPO NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
JBrowse link
G ALX3 ALX homeobox 3 IAGP ORPHA:391474 HPO NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP ORPHA:2176 HPO NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ORPHA:251056 HPO NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G BCOR BCL6 corepressor IAGP ORPHA:568 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
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 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 CASZ1 castor zinc finger 1 IAGP ORPHA:1606 HPO NCBI chr 1:10,636,604...10,796,650
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP ORPHA:2136 HPO NCBI chr18:59,430,939...59,698,181
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CCN6 cellular communication network factor 6 IAGP OMIM:208230 HPO NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
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 CHRNG cholinergic receptor nicotinic gamma subunit IAGP ORPHA:2990 HPO NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP ORPHA:1545 HPO NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP ORPHA:263487 HPO NCBI chr 7:107,201,372...107,564,361
Ensembl chr 7:107,201,372...107,564,261
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ORPHA:2021 HPO NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ORPHA:2021 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP ORPHA:610 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP OMIM:226650 HPO NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP OMIM:158810 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 OMIM:158810 ORPHA:610 HPO NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP OMIM:158810 ORPHA:610 HPO NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,328
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 CRLF1 cytokine receptor like factor 1 IAGP ORPHA:1545 HPO NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP ORPHA:48431 HPO NCBI chr18:79,679,803...79,756,625
Ensembl chr18:79,679,803...79,754,503
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 DHODH dihydroorotate dehydrogenase (quinone) IAGP ORPHA:246 HPO NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ORPHA:2311 HPO NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
JBrowse link
G DOK7 docking protein 7 IAGP ORPHA:994 HPO NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ORPHA:3107 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP ORPHA:3107 HPO NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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 EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP ORPHA:1270 HPO NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,997,428
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP OMIM:610758 ORPHA:1466 HPO NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP OMIM:610756 ORPHA:1466 HPO NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ORPHA:1466 HPO 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 ORPHA:1466 HPO 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 ORPHA:3447 HPO NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ORPHA:2136 HPO NCBI chr 4:125,314,918...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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 FBN2 fibrillin 2 IAGP ORPHA:115 HPO NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP ORPHA:2908 HPO NCBI chr20:6,074,845...6,123,609
Ensembl chr20:6,074,845...6,123,030
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 FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:83 HPO 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 ORPHA:85164 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FKTN fukutin IAGP ORPHA:272 HPO NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FLNA filamin A IAGP OMIM:300244 OMIM:305620 ORPHA:1826 ORPHA:90652 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FZD2 frizzled class receptor 2 IAGP ORPHA:3107 HPO NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ORPHA:1606 HPO 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 ORPHA:3250 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ORPHA:2710 ORPHA:93404 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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 GPC3 glypican 3 IAGP ORPHA:373 HPO NCBI chr  X:133,535,745...133,985,616
Ensembl chr  X:133,535,745...133,985,594
JBrowse link
G GPC4 glypican 4 IAGP ORPHA:373 HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ORPHA:2570 HPO NCBI chr  X:49,113,396...49,124,547
Ensembl chr  X:49,113,407...49,123,735
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ORPHA:2311 HPO NCBI chr17:8,120,590...8,126,032
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP ORPHA:324442 HPO NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186300 ORPHA:93406 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP ORPHA:1606 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IDS iduronate 2-sulfatase IAGP ORPHA:217093 HPO NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IDUA alpha-L-iduronidase IAGP ORPHA:93473 HPO NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP OMIM:604320 HPO NCBI chr11:68,903,855...68,940,601
Ensembl chr11:68,903,863...68,940,602
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ORPHA:464 HPO NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP OMIM:226650 HPO NCBI chr17:75,721,339...75,757,819
Ensembl chr17:75,721,328...75,757,818
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 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP ORPHA:1606 HPO NCBI chr 1:5,992,639...6,101,186
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G KDM5C lysine demethylase 5C IAGP ORPHA:85279 HPO NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,191,321...53,225,422
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ORPHA:2466 HPO NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G LAGE3 L antigen family member 3 IAGP ORPHA:2065 HPO NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,769...154,479,257
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP OMIM:226650 HPO NCBI chr18:23,689,443...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP OMIM:226650 HPO NCBI chr 1:209,614,870...209,652,467
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP OMIM:226650 HPO NCBI chr 1:183,186,264...183,245,127
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP ORPHA:2311 HPO NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
JBrowse link
G LIFR LIF receptor subunit alpha IAGP ORPHA:3206 HPO NCBI chr 5:38,474,668...38,606,290
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP ORPHA:3332 ORPHA:93405 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
G LMNA lamin A/C IAGP ORPHA:1662 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ORPHA:1606 HPO NCBI chr 1:23,084,030...23,177,808
Ensembl chr 1:23,084,023...23,177,808
JBrowse link
G MAFB MAF bZIP transcription factor B IAGP ORPHA:2774 HPO NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
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:2273 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:71,118,556...71,142,454
JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP OMIM:614399 HPO NCBI chr 5:127,229,519...127,461,222
Ensembl chr 5:127,290,796...127,465,737
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP ORPHA:2311 HPO NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ORPHA:1606 HPO NCBI chr 1:1,631,681...1,635,638
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Camptodactyly of hands ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP OMIM:208150 ORPHA:994 HPO NCBI chr 9:110,668,189...110,806,633
Ensembl chr 9:110,668,779...110,806,558
JBrowse link
G MYBPC1 myosin binding protein C1 IAGP ORPHA:1146 HPO NCBI chr12:101,594,849...101,695,841
Ensembl chr12:101,568,353...101,686,028
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ORPHA:1146 ORPHA:2053 ORPHA:2990 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYLPF myosin light chain, phosphorylatable, fast skeletal muscle IAGP OMIM:619110 HPO NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991
JBrowse link
G MYOD1 myogenic differentiation 1 IAGP ORPHA:994 HPO NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ORPHA:568 HPO NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G NALCN sodium leak channel, non-selective IAGP ORPHA:1146 ORPHA:2053 HPO NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ORPHA:575 HPO NCBI chr 1:247,416,163...247,448,823
Ensembl chr 1:247,416,156...247,449,108
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP OMIM:186580 ORPHA:90340 HPO NCBI chr16:50,693,587...50,733,077
Ensembl chr16:50,693,588...50,734,041
JBrowse link
G NOG noggin IAGP ORPHA:3250 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:3447 HPO NCBI chr 5:177,131,835...177,300,213
Ensembl chr 5:177,133,025...177,300,213
JBrowse link
G NUP107 nucleoporin 107 IAGP ORPHA:2065 HPO NCBI chr12:68,686,971...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G NUP133 nucleoporin 133 IAGP ORPHA:2065 HPO NCBI chr 1:229,440,259...229,508,342
Ensembl chr 1:229,440,259...229,508,341
JBrowse link
G NUP88 nucleoporin 88 IAGP ORPHA:994 HPO NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,360,963...5,419,676
JBrowse link
G NXN nucleoredoxin IAGP ORPHA:1507 HPO NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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 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 OSGEP O-sialoglycoprotein endopeptidase IAGP ORPHA:2065 HPO NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
JBrowse link
G PAX3 paired box 3 IAGP OMIM:148820 ORPHA:1529 ORPHA:896 HPO NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PDPN podoplanin IAGP ORPHA:1606 HPO NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP ORPHA:3220 HPO NCBI chr 7:92,487,023...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP ORPHA:3220 HPO NCBI chr 6:42,963,865...42,980,224
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:114300 ORPHA:2461 ORPHA:376 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ClinVar Annotator: match by term: Camptodactyly of hands ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ORPHA:3455 HPO NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ORPHA:83 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PORCN porcupine O-acyltransferase IAGP ORPHA:2092 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ORPHA:1606 HPO 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 ORPHA:1606 HPO NCBI chr 1:2,050,411...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP OMIM:256040 HPO NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP OMIM:619420 HPO NCBI chr 2:135,052,281...135,176,667
Ensembl chr 2:135,052,292...135,176,394
JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ORPHA:994 HPO NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP ORPHA:1606 HPO NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP ORPHA:2311 HPO NCBI chr 6:83,853,360...83,857,515
Ensembl chr 6:83,853,266...83,857,515
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ORPHA:1507 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RTTN rotatin IAGP ORPHA:468631 HPO NCBI chr18:70,003,031...70,205,726
Ensembl chr18:70,003,031...70,205,726
JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP ORPHA:137834 HPO NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ORPHA:3332 ORPHA:93405 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SKI SKI proto-oncogene IAGP ORPHA:1606 ORPHA:2462 HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP ORPHA:994 HPO NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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 SLC29A3 solute carrier family 29 member 3 IAGP OMIM:602782 HPO NCBI chr10:71,319,259...71,363,387
Ensembl chr10:71,319,259...71,381,423
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 SLC35A3 solute carrier family 35 member A3 IAGP OMIM:615553 HPO NCBI chr 1:99,968,401...100,035,634
Ensembl chr 1:99,969,351...100,035,634
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP OMIM:612350 HPO NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G SMAD3 SMAD family member 3 IAGP ORPHA:284984 HPO NCBI chr15:67,065,602...67,195,195
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 IAGP ORPHA:1658 HPO NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP OMIM:616920 HPO NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
JBrowse link
G SPEN spen family transcriptional repressor IAGP ORPHA:1606 HPO NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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 TBC1D2B TBC1 domain family member 2B IAGP OMIM:619323 HPO NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724
JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP ORPHA:1617 HPO NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870
JBrowse link
G TBX3 T-box transcription factor 3 IAGP ORPHA:3138 HPO NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TCTN3 tectonic family member 3 IAGP ORPHA:2753 HPO NCBI chr10:95,663,401...95,693,954
Ensembl chr10:95,659,823...95,694,143
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 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 TMEM70 transmembrane protein 70 IAGP ORPHA:1194 HPO NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP OMIM:601680 ORPHA:1146 HPO 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 ORPHA:1146 HPO NCBI chr11:1,919,551...1,938,704
Ensembl chr11:1,919,703...1,938,706
JBrowse link
G TP53RK TP53 regulating kinase IAGP ORPHA:2065 HPO NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:1146 HPO NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TPRKB TP53RK binding protein IAGP ORPHA:2065 HPO NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:2635 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP OMIM:600638 HPO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP ORPHA:920 HPO NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G UBE4B ubiquitination factor E4B IAGP ORPHA:1606 HPO NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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 WDR4 WD repeat domain 4 IAGP ORPHA:2065 HPO NCBI chr21:42,843,075...42,891,695
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G WDR73 WD repeat domain 73 IAGP ORPHA:2065 HPO NCBI chr15:84,639,285...84,654,290
Ensembl chr15:84,639,285...84,654,343
JBrowse link
G WNT5A Wnt family member 5A IAGP ORPHA:3107 HPO NCBI chr 3:55,465,715...55,505,261
Ensembl chr 3:55,465,715...55,490,539
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 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 ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:1662 HPO NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Congenital finger flexion contractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAT3 adenosine deaminase tRNA specific 3 IAGP ORPHA:363528 HPO NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
JBrowse link
G CAPN3 calpain 3 IAGP ORPHA:267 HPO NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP ORPHA:536516 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G FBN2 fibrillin 2 IAGP OMIM:121050 HPO NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP ORPHA:166108 HPO NCBI chr 8:139,600,838...139,703,135
Ensembl chr 8:139,600,838...139,704,109
JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP ORPHA:466768 HPO NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:108145 ORPHA:1154 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PRG4 proteoglycan 4 IAGP OMIM:208250 HPO NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567
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 TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Congenital finger contractures ClinVar PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
JBrowse link
Contracture of the distal interphalangeal joint of the fingers 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
Contracture of the proximal interphalangeal joint of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL10 ribosomal protein L10 IAGP OMIM:300998 HPO NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
Contracture of the proximal interphalangeal joint of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 IAGP ORPHA:464738 HPO NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:93307 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP OMIM:301044 HPO NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
Contracture of the proximal interphalangeal joint of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL3 ASXL transcriptional regulator 3 IAGP OMIM:615485 HPO NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
JBrowse link
Contracture of the proximal interphalangeal joint of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186000 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO NCBI chr 5:38,474,668...38,606,290
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP OMIM:280000 HPO NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
JBrowse link
Contractures of the interphalangeal joint of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECE1 endothelin converting enzyme 1 IAGP OMIM:613870 HPO NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
JBrowse link
Dupuytren contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5A kinesin family member 5A IAGP ORPHA:100991 HPO NCBI chr12:57,550,039...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
Flexion contracture of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP ORPHA:2020 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ANO5 anoctamin 5 IAGP ORPHA:206549 HPO NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ORPHA:320370 HPO NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ORPHA:485 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:618175 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:254528 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ORPHA:464311 HPO NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G FLVCR1 FLVCR heme transporter 1 IAGP OMIM:609033 HPO NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ORPHA:2020 HPO NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP ORPHA:2020 HPO NCBI chr12:55,684,568...55,716,037
Ensembl chr12:55,684,568...55,716,043
JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP ORPHA:2020 HPO NCBI chr 2:173,075,435...173,268,015
Ensembl chr 2:173,075,435...173,268,015
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:254528 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MYH3 myosin heavy chain 3 IAGP OMIM:193700 HPO NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYL2 myosin light chain 2 IAGP ORPHA:2020 HPO NCBI chr12:110,910,845...110,920,579
Ensembl chr12:110,910,819...110,921,443
JBrowse link
G NEFL neurofilament light chain IAGP ORPHA:101085 HPO NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP OMIM:256040 HPO NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:254528 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G SELENON selenoprotein N IAGP ORPHA:2020 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SVIL supervillin IAGP OMIM:619040 HPO NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
JBrowse link
G TPM2 tropomyosin 2 IAGP ORPHA:2020 HPO 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 ORPHA:2020 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,304...154,194,648
JBrowse link
Flexion contracture of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP OMIM:607932 HPO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP OMIM:307000 HPO NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
Interphalangeal joint contracture of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLK1 delta like non-canonical Notch ligand 1 IAGP ORPHA:96334 HPO NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G MEG3 maternally expressed 3 IAGP ORPHA:96334 HPO NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP OMIM:259600 HPO NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP ORPHA:96334 HPO NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP ORPHA:1145 HPO NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
Joint contracture of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 IAGP OMIM:618914 HPO NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873
JBrowse link
Joint contracture of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP ORPHA:352490 HPO NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
JBrowse link
G CTCF CCCTC-binding factor IAGP ORPHA:363611 HPO NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP OMIM:618914 HPO NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G PITX1 paired like homeodomain 1 IAGP OMIM:186550 HPO NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
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 SLC29A3 solute carrier family 29 member 3 IAGP OMIM:602782 HPO NCBI chr10:71,319,259...71,363,387
Ensembl chr10:71,319,259...71,381,423
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP OMIM:300799 HPO NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Abnormality of upper limb joint 497
            Joint contracture of the hand 240
              Bethlem sign 0
              Dupuytren contracture 1
              Flexion contracture of finger + 212
Path 2
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of the musculoskeletal system 3903
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal tendon morphology 779
              Flexion contracture 751
                Limb joint contracture 377
                  Contractures of the joints of the upper limbs 295
                    Joint contracture of the hand 240
                      Bethlem sign 0
                      Dupuytren contracture 1
                      Flexion contracture of finger + 212
paths to the root