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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:Limb joint contracture
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Accession:HP:0003121 term browser browse the term
Definition:A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.
Synonyms:exact_synonym: Limb contractures
 alt_id: HP:0005631;   HP:0005839
 xref: UMLS:C1969879



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Limb joint contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP OMIM:255310 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ARX aristaless related homeobox IAGP OMIM:300004 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP OMIM:618186 HPO NCBI chr17:42,679,767...42,699,993
Ensembl chr17:42,682,531...42,699,993
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP ORPHA:251393 HPO NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G F8 coagulation factor VIII IAGP ORPHA:169802 HPO NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ORPHA:251393 HPO NCBI chr17:75,721,339...75,757,819
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G MYH7 myosin heavy chain 7 IAGP OMIM:255310 HPO NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
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 RYR1 ryanodine receptor 1 IAGP OMIM:255310 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SELENON selenoprotein N IAGP OMIM:255310 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP OMIM:613811 HPO NCBI chr 4:25,120,014...25,160,546
Ensembl chr 4:25,120,014...25,160,550
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:255310 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 OMIM:255310 HPO NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,304...154,194,648
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
Achilles tendon contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD12 abhydrolase domain containing 12, lysophospholipase IAGP OMIM:612674 HPO NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP OMIM:616852 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
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 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP OMIM:607225 HPO NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Achilles tendon contracture ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP OMIM:615290 HPO NCBI chr 9:92,711,363...92,764,841
Ensembl chr 9:92,711,363...92,764,833
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 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 CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ORPHA:370980 HPO NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G EMD emerin IAGP OMIM:310300 ORPHA:98863 HPO NCBI chr  X:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ORPHA:98863 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G FKRP fukutin related protein IAGP OMIM:606612 OMIM:607155 ORPHA:370980 HPO NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP ORPHA:370980 HPO NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G GJB1 gap junction protein beta 1 IAGP OMIM:302800
ClinVar Annotator: match by term: Tight achilles tendon
HPO
ClinVar
PMID:16096811 PMID:21291455 PMID:22243284 PMID:25388846 PMID:25741868 More... NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
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 HRAS HRas proto-oncogene, GTPase IAGP OMIM:218040 HPO NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KY kyphoscoliosis peptidase IAGP OMIM:617114 HPO NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
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 LMNA lamin A/C IAGP OMIM:181350 ORPHA:98853 ORPHA:98855
DNA:missense mutations, nonsense mutation:cds:multiple
HPO
RGD
PMID:10080180 RGD:12791020 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
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 MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ORPHA:2596 HPO NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G MYOT myotilin IAGP OMIM:609200 HPO NCBI chr 5:137,867,282...137,887,851
Ensembl chr 5:137,867,858...137,887,851
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 NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP OMIM:611091 HPO NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP OMIM:210000 HPO NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PLEC plectin IAGP ORPHA:254361 HPO NCBI chr 8:143,915,153...143,976,800
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ORPHA:370980 HPO NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,789...131,523,806
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 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 SGCA sarcoglycan alpha IAGP ORPHA:62 HPO NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928
JBrowse link
G SGCG sarcoglycan gamma IAGP ORPHA:353 HPO NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ORPHA:98853 HPO NCBI chr 6:152,121,687...152,637,395
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ORPHA:98853 HPO NCBI chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ORPHA:98853 HPO NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TTN titin IAGP OMIM:603689 HPO NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP OMIM:301041 HPO NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713
JBrowse link
Adductor longus contractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP OMIM:210000 HPO NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
Ankle flexion contracture 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 ALAD aminolevulinate dehydratase IAGP ORPHA:100924 HPO NCBI chr 9:113,386,312...113,401,301
Ensembl chr 9:113,386,312...113,401,290
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 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 C19orf12 chromosome 19 open reading frame 12 IAGP OMIM:615043 ORPHA:320370 HPO NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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 CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Contractures of the ankles ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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 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 chr21:46,098,112...46,132,848
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...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G DAG1 dystroglycan 1 IAGP OMIM:613818 ORPHA:280333 HPO NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
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 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP OMIM:608799 HPO NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ORPHA:1143 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:209951 HPO NCBI chr 8:37,736,627...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP OMIM:611228 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP OMIM:259450 HPO NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G FLNA filamin A IAGP OMIM:305620 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
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 HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP ClinVar Annotator: match by term: Contractures of the ankles ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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...55,716,404
JBrowse link
G KLHL9 kelch like family member 9 IAGP ORPHA:399081 HPO NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,329,665...21,335,404
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP OMIM:617468 HPO NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
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 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 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 NEB nebulin IAGP ORPHA:399103 HPO NCBI chr 2:151,485,334...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:821 HPO NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP ORPHA:320396 HPO NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP ORPHA:319514 HPO NCBI chr 2:55,634,061...55,693,853
Ensembl chr 2:55,634,061...55,693,863
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP ORPHA:284417 HPO NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP ClinVar Annotator: match by term: Contractures of the ankles ClinVar PMID:25741868 PMID:27055666 PMID:31680349 NCBI chr11:125,893,485...125,903,219
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G RPL10 ribosomal protein L10 IAGP ORPHA:435938 HPO NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
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 RYR1 ryanodine receptor 1 IAGP OMIM:117000 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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 SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ORPHA:821 HPO NCBI chr 3:47,016,431...47,164,113
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ORPHA:99949 HPO NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP OMIM:616668 HPO NCBI chr15:44,562,696...44,663,678
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP OMIM:617519 HPO NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
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 TOR1AIP1 torsin 1A interacting protein 1 IAGP OMIM:617072 HPO NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077
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
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
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 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...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 3:47,016,428...47,164,113
JBrowse link
Bilateral wrist flexion contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 IAGP ORPHA:97297 HPO NCBI chr20:32,358,062...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:209951 HPO NCBI chr 8:37,736,627...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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 chr21:46,098,112...46,132,848
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...237,414,164
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...133,987,100
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:217085 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:53,176,283...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:154,477,775...154,479,281
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 1:23,083,642...23,177,808
Ensembl chr 1:23,084,030...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:71,118,543...71,144,103
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 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...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 chr10:77,975,149...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 2:135,052,289...135,176,667
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 6:83,853,360...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
Camptodactyly of toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 DSP desmoplakin IAGP ORPHA:158687 HPO NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
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 FLNA filamin A IAGP OMIM:300244 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
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 JUP junction plakoglobin IAGP ORPHA:158687 HPO NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931
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 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 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 PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:114300 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
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
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
Congenital foot contractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP ORPHA:565624 HPO NCBI chr 5:74,721,206...74,767,147
Ensembl chr 5:74,721,206...74,767,147
JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP OMIM:314580 ORPHA:3454 HPO NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713
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 2nd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP OMIM:300166 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
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 3rd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP OMIM:300166 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
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 4th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP ORPHA:457279 HPO NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
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 involving the joints of the feet term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP ORPHA:444072 HPO NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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 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 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...167,139,141
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 DDHD2 DDHD domain containing 2 IAGP ORPHA:320380 HPO NCBI chr 8:38,231,585...38,273,922
Ensembl chr 8:38,225,218...38,275,558
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ORPHA:90321 HPO NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP ORPHA:90321 HPO NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP ORPHA:90321 HPO NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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 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 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 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 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
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
Contractures of the joints of the lower limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ORPHA:99885 HPO NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ORPHA:300605 HPO NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Contractures, lower limbs ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G FUS FUS RNA binding protein IAGP ORPHA:300605 HPO NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605
JBrowse link
G GCK glucokinase IAGP ORPHA:99885 HPO NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G INS insulin IAGP ORPHA:99885 HPO NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ORPHA:99885 HPO NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP ORPHA:99885 HPO NCBI chr13:27,919,982...27,926,313
Ensembl chr13:27,920,000...27,926,313
JBrowse link
G RPL10 ribosomal protein L10 IAGP ORPHA:459070 HPO NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ORPHA:300605 HPO NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP OMIM:613710 HPO NCBI chr17:75,272,980...75,289,958
Ensembl chr17:75,272,981...75,289,510
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ORPHA:300605 HPO NCBI chr15:44,562,696...44,663,678
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:99885 HPO NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G WDR26 WD repeat domain 26 IAGP ORPHA:513456 HPO NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
JBrowse link
Contractures of the joints of the upper limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ORPHA:300605 HPO NCBI chr 2:201,700,267...201,781,153
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G FUS FUS RNA binding protein IAGP ORPHA:300605 HPO NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,191,605
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP ORPHA:300605 HPO NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ORPHA:300605 HPO NCBI chr15:44,562,696...44,663,678
Ensembl chr15:44,554,818...44,663,688
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
Elbow flexion contracture 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 ORPHA:97244 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ORPHA:447757 HPO NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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 ATR ATR serine/threonine kinase IAGP OMIM:210600 HPO NCBI chr 3:142,449,235...142,578,793
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ORPHA:93359 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 CAPN3 calpain 3 IAGP ORPHA:267
ClinVar Annotator: match by term: Fixed flexion at the elbow joint
HPO
ClinVar
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
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 COL12A1 collagen type XII alpha 1 chain IAGP ORPHA:536516 ORPHA:610 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:158810 ORPHA:610 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:158810 ORPHA:610 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:158810 ORPHA:610 ORPHA:75840 HPO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP OMIM:608836 HPO NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP OMIM:272430 HPO NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 OMIM:618175 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP OMIM:615065 HPO NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
JBrowse link
G EMD emerin IAGP OMIM:310300 ORPHA:98863 HPO NCBI chr  X:154,379,236...154,381,523
Ensembl chr  X:154,379,273...154,381,574
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 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ORPHA:1143 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:280384 HPO NCBI chr 8:37,736,627...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G EXOC6B exocyst complex component 6B IAGP ORPHA:93359 HPO NCBI chr 2:72,175,984...72,826,033
Ensembl chr 2:72,175,984...72,826,041
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP ORPHA:508533 HPO NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,755,599
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:608328 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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 FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP OMIM:618156 HPO NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ORPHA:98863 HPO NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP OMIM:259450 HPO NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G FLNA filamin A IAGP OMIM:305620 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GJB2 gap junction protein beta 2 IAGP OMIM:148210 HPO NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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 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 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP OMIM:619194 HPO NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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...55,716,404
JBrowse link
G KIF22 kinesin family member 22 IAGP ORPHA:93360 HPO NCBI chr16:29,790,734...29,805,543
Ensembl chr16:29,790,727...29,805,385
JBrowse link
G KY kyphoscoliosis peptidase IAGP OMIM:617114 HPO NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP OMIM:618138 HPO NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP OMIM:608840 HPO NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP OMIM:617468 HPO NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 ORPHA:3206 HPO NCBI chr 5:38,474,668...38,606,290
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LMNA lamin A/C IAGP OMIM:181350 OMIM:616516 ORPHA:98853 ORPHA:98855
DNA:missense mutations, nonsense mutation:cds:multiple
HPO
RGD
PMID:10080180 RGD:12791020 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
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 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 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 MYH3 myosin heavy chain 3 IAGP OMIM:178110 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 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 NALCN sodium leak channel, non-selective IAGP OMIM:616266 HPO NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP OMIM:122470 HPO NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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 PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP OMIM:618440 HPO NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
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 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 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP OMIM:609220 HPO NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP OMIM:612394 HPO NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP OMIM:604416 HPO NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475
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 PYCR1 pyrroline-5-carboxylate reductase 1 IAGP OMIM:614438 HPO NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:210710 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Fixed flexion at the elbow joint ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP OMIM:600920 HPO NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
JBrowse link
G SELENON selenoprotein N IAGP ORPHA:2020 ORPHA:97244 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
G SIK3 SIK family kinase 3 IAGP OMIM:618162 HPO NCBI chr11:116,843,402...117,098,453
Ensembl chr11:116,843,402...117,098,437
JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP OMIM:619303 HPO NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:56304 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 SLC39A8 solute carrier family 39 member 8 IAGP ORPHA:468699 HPO NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP OMIM:617301 HPO NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP OMIM:117650 HPO NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G SPRTN SprT-like N-terminal domain IAGP OMIM:616200 HPO NCBI chr 1:231,337,980...231,355,023
Ensembl chr 1:231,337,104...231,355,023
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP OMIM:612713 HPO NCBI chr 4:55,346,228...55,373,100
Ensembl chr 4:55,346,213...55,373,100
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 SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ORPHA:98853 HPO NCBI chr 6:152,121,687...152,637,395
Ensembl chr 6:152,121,687...152,637,801
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ORPHA:98853 HPO NCBI chr14:63,761,904...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TBX15 T-box transcription factor 15 IAGP ORPHA:93333 HPO NCBI chr 1:118,883,046...118,989,510
Ensembl chr 1:118,883,046...118,989,556
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP OMIM:113620 HPO NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ORPHA:98853 HPO NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TOR1A torsin family 1 member A IAGP OMIM:618947 HPO NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:108120 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
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:600175 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP ORPHA:1145 HPO NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP ORPHA:371364 HPO NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300
JBrowse link
G WNT7A Wnt family member 7A IAGP OMIM:276820 HPO NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
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 ORPHA:88628 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...55,716,404
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 the 2nd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
Flexion contracture of the 4th toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ORPHA:2712 HPO NCBI chr  X:40,051,246...40,177,390
Ensembl chr  X:40,049,815...40,177,329
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
Flexion contracture of toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP OMIM:610758 HPO NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:209951 HPO NCBI chr 8:37,736,627...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:608328 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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 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 NOD2 nucleotide binding oligomerization domain containing 2 IAGP OMIM:186580 HPO NCBI chr16:50,693,587...50,733,077
Ensembl chr16:50,693,588...50,734,041
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP ORPHA:320396 HPO NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP ORPHA:280633 HPO NCBI chr18:62,041,164...62,187,118
Ensembl chr18:61,905,255...62,187,118
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 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 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 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
Hamstring contractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ORPHA:139396 HPO NCBI chr  X:153,724,851...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP ORPHA:97244 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 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 OPA1 OPA1 mitochondrial dynamin like GTPase IAGP OMIM:210000 HPO NCBI chr 3:193,593,149...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G SELENON selenoprotein N IAGP ORPHA:97244 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
JBrowse link
Hip contracture 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 ORPHA:97244 HPO NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
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 BICD2 BICD cargo adaptor 2 IAGP OMIM:615290 HPO NCBI chr 9:92,711,363...92,764,841
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BIN1 bridging integrator 1 IAGP ORPHA:169186 HPO NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:156550 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ORPHA:1143 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:209951 HPO NCBI chr 8:37,736,627...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G F8 coagulation factor VIII IAGP ORPHA:169805 HPO NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
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 FKBP10 FKBP prolyl isomerase 10 IAGP OMIM:259450 HPO NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP OMIM:619042 HPO NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
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 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ORPHA:576 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP OMIM:619194 HPO NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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...55,716,404
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP OMIM:606170 ORPHA:85201 HPO NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP OMIM:617468 HPO NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
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 MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP OMIM:617137 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
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 MYH3 myosin heavy chain 3 IAGP OMIM:178110 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 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 NALCN sodium leak channel, non-selective IAGP OMIM:616266 HPO NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ORPHA:821 HPO NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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 PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP ORPHA:319514 HPO NCBI chr 2:55,634,061...55,693,853
Ensembl chr 2:55,634,061...55,693,863
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:156400 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:210710 OMIM:616651 ORPHA:353298 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ORPHA:169186 HPO NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Hip flexion contractures 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 SELENON selenoprotein N IAGP ORPHA:2020 ORPHA:97244 HPO NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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 3:47,016,428...47,164,113
JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP OMIM:618363 HPO NCBI chr 4:146,253,981...146,522,351
Ensembl chr 4:146,253,975...146,522,372
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:222600 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP OMIM:617301 HPO NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467
JBrowse link
G SPEG striated muscle enriched protein kinase IAGP OMIM:615959 ORPHA:169186 HPO NCBI chr 2:219,434,215...219,493,629
Ensembl chr 2:219,434,843...219,493,629
JBrowse link
G TELO2 telomere maintenance 2 IAGP ORPHA:488642 HPO NCBI chr16:1,493,345...1,510,459
Ensembl chr16:1,493,344...1,510,457
JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP OMIM:605355 ORPHA:98902 HPO NCBI chr19:55,132,698...55,149,332
Ensembl chr19:55,132,698...55,149,206
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:108120 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
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:600175 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G TTN titin IAGP ORPHA:169186 HPO NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP OMIM:616801 HPO NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP OMIM:259050 ORPHA:3042 HPO NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,288
JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP OMIM:301041 HPO NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713
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
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...184,249,525
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...167,139,141
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:71,118,543...71,144,103
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...48,903,402
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
Knee flexion contracture 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 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP ORPHA:353327 HPO NCBI chr 1:94,974,405...95,072,974
Ensembl chr 1:94,974,405...95,072,951
JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP ORPHA:353327 HPO NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP OMIM:616681 HPO NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP OMIM:617402 HPO NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
JBrowse link
G BAG3 BAG cochaperone 3 IAGP OMIM:612954 HPO NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP OMIM:615290 HPO NCBI chr 9:92,711,363...92,764,841
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP OMIM:615043 ORPHA:320370 HPO NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP OMIM:616286 HPO NCBI chr17:42,679,767...42,699,993
Ensembl chr17:42,682,531...42,699,993
JBrowse link
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 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 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 ORPHA:75840 HPO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP OMIM:608836 HPO NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DHX16 DEAH-box helicase 16 IAGP OMIM:618733 HPO NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ORPHA:353327 HPO NCBI chr11:119,096,505...119,101,884
Ensembl chr11:119,096,025...119,108,331
JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP OMIM:608799 HPO NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ORPHA:1143 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP ORPHA:401785 HPO NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ORPHA:280384 HPO NCBI chr 8:37,736,627...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 ORPHA:3103 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:184900 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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 FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP OMIM:618156 HPO NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304
JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP OMIM:259450 HPO NCBI chr17:41,812,938...41,823,215
Ensembl chr17:41,812,680...41,823,213
JBrowse link
G FLNA filamin A IAGP OMIM:305620
DNA:deletion:cds:c.4904_4912del (human)
HPO
RGD
PMID:15654694 RGD:11565126 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP ORPHA:353327 HPO NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
JBrowse link
G GJB2 gap junction protein beta 2 IAGP OMIM:148210 HPO NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP ORPHA:93322 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ORPHA:353327 HPO NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP ORPHA:576 HPO NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP OMIM:619194 HPO NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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...55,716,404
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP OMIM:606170 ORPHA:85201
DNA:mutations:cds:multiple
HPO
RGD
PMID:22265017 RGD:9588485 NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KY kyphoscoliosis peptidase IAGP ORPHA:496689 HPO NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP OMIM:617468 HPO NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 ORPHA:3206 HPO NCBI chr 5:38,474,668...38,606,290
Ensembl chr 5:38,474,668...38,608,354
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 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 MYH3 myosin heavy chain 3 IAGP OMIM:178110 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 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 MYO9A myosin IXA IAGP OMIM:618198 HPO NCBI chr15:71,822,291...72,118,577
Ensembl chr15:71,822,291...72,118,577
JBrowse link
G NALCN sodium leak channel, non-selective IAGP OMIM:616266 HPO NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP ORPHA:320396 HPO NCBI chr10:103,088,017...103,193,301
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:114300 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP OMIM:616809 HPO NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP OMIM:603387 HPO NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP OMIM:609220 HPO NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP ORPHA:284417 HPO NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP OMIM:604416 HPO NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475
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 PTH1R parathyroid hormone 1 receptor IAGP OMIM:156400 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:210710 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G RPL10 ribosomal protein L10 IAGP ORPHA:435938 HPO NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168
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 RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Flexion contractures at both knees ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727
JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP OMIM:600920 HPO NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Flexion contractures at both knees 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 SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ORPHA:3208 HPO NCBI chr 5:218,309...264,816
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP ORPHA:3208 HPO NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ORPHA:3208 HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ORPHA:3208 HPO NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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 SIK3 SIK family kinase 3 IAGP OMIM:618162 HPO NCBI chr11:116,843,402...117,098,453
Ensembl chr11:116,843,402...117,098,437
JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP OMIM:617239 HPO NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP OMIM:619303 HPO NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP ORPHA:468699 HPO NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP OMIM:612713 HPO NCBI chr 4:55,346,228...55,373,100
Ensembl chr 4:55,346,213...55,373,100
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 TELO2 telomere maintenance 2 IAGP ORPHA:488642 HPO NCBI chr16:1,493,345...1,510,459
Ensembl chr16:1,493,344...1,510,457
JBrowse link
G TPM2 tropomyosin 2 IAGP OMIM:108120 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
G TRIM2 tripartite motif containing 2 IAGP OMIM:615490 HPO NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:600175 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP ORPHA:1145 HPO NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128
JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP ORPHA:371364 HPO NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP OMIM:259050 HPO NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,288
JBrowse link
Shoulder flexion contracture 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:536516 HPO NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G KY kyphoscoliosis peptidase IAGP OMIM:617114 HPO NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
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 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 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) IAGP OMIM:210710 HPO NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP OMIM:605355 ORPHA:98902 HPO NCBI chr19:55,132,698...55,149,332
Ensembl chr19:55,132,698...55,149,206
JBrowse link
Wrist flexion contracture 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 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 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:610 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 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 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 DHX16 DEAH-box helicase 16 IAGP OMIM:618733 HPO NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006
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 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ORPHA:1143 HPO NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP OMIM:268300 ORPHA:3103 HPO NCBI chr 8:27,771,949...27,812,430
Ensembl chr 8:27,771,949...27,812,640
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 FLNA filamin A IAGP OMIM:305620 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP OMIM:255800 ORPHA:800 HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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 MECP2 methyl-CpG binding protein 2 IAGP OMIM:300055 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
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 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 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 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 PRG4 proteoglycan 4 IAGP OMIM:208250 HPO