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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:Abnormal tendon morphology
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Accession:HP:0100261 term browser browse the term
Definition:An abnormality of the structure or form of the tendons, also often called sinews.
Comment:A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force.
Synonyms:exact_synonym: Abnormal shape of tendon;   Abnormality of the sinew
 xref: UMLS:C4021026


show annotations for term's descendants           Sort by:
Abnormal tendon morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:391665 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO ORPHA:391665 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G APOB apolipoprotein B IAGP HPO ORPHA:391665 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228 		JBrowse link
G LDLR low density lipoprotein receptor IAGP HPO ORPHA:391665 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP HPO ORPHA:391665 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,604...25,591,200 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO ORPHA:391665 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852 		JBrowse link
Abnormality of the Achilles tendon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6IP1 ARL6 interacting reticulophagy regulator 1 IAGP HPO ORPHA:401780 NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,609...18,801,572 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO ORPHA:363454 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:34515 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GAN gigaxonin IAGP HPO ORPHA:643 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,884 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP HPO ORPHA:1435 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PRKCG protein kinase C gamma IAGP HPO ORPHA:98763 NCBI chr19:53,881,094...53,907,652
Ensembl chr19:53,879,190...53,907,652 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO ORPHA:431329 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
Achilles tendon calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho IAGP HPO MIM:617994 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Achilles tendon contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO MIM:619719 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ABHD12 abhydrolase domain containing 12, lysophospholipase IAGP HPO MIM:612674 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 HPO MIM:616852 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:607225 NCBI chr 2:201,700,267...201,780,933
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 chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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 HPO MIM:255600 ORPHA:610 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 HPO ORPHA:610 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 HPO ORPHA:370980 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DMD dystrophin IAGP HPO MIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:160150 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G EMD emerin IAGP HPO MIM:310300 ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300695 MIM:300696 ORPHA:98863 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 HPO MIM:606612 MIM:607155 ORPHA:370980 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:370980 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: Achilles tendon contracture ClinVar
HPO		 PMID:16096811 PMID:21291455 PMID:22243284 PMID:25388846 PMID:25741868 More... MIM:302800 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 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 HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO MIM:617114 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 HPO MIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations, nonsense mutation:cds:multiple HPO
RGD		 PMID:10080180 MIM:151660 MIM:181350 MIM:613205 ORPHA:98853 ORPHA:98855, RGD:12791020 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO MIM:620323 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO MIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:2596 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO MIM:160150 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYOT myotilin IAGP HPO MIM:609200 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 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 HPO MIM:611091 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 HPO MIM:210000 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370980 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO MIM:616263 ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO MIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO ORPHA:62 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCG sarcoglycan gamma IAGP HPO ORPHA:353 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:620068 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO MIM:615418 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:620528 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TTN titin IAGP HPO MIM:603689 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 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 HPO MIM:210000 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
Ankle contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:158810 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 HPO MIM:620725 MIM:620727 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 HPO MIM:620728 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO MIM:620460 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G SLC4A10 solute carrier family 4 member 10 IAGP HPO MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO MIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:620386 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		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 HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ALAD aminolevulinate dehydratase IAGP HPO ORPHA:100924 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO MIM:618120 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G C18orf32 chromosome 18 open reading frame 32 IAGP HPO MIM:619985 NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:615043 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP ClinVar Annotator: match by term: Ankle flexion contracture ClinVar PMID:25741868 PMID:27141300 PMID:28492532 PMID:31680349 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 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 Annotator: match by term: Ankle contracture 		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 COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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 HPO ORPHA:610 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 HPO ORPHA:610 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 HPO MIM:613818 ORPHA:280333 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:618175 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 HPO MIM:608799 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 HPO ORPHA:464311 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 HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:611228 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO MIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 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 HPO ORPHA:2020 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: Ankle flexion contracture ClinVar PMID:25741868 PMID:27055666 PMID:28492532 PMID:31444731 PMID:31680349 More... 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 HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KLHL9 kelch like family member 9 IAGP HPO ORPHA:399081 NCBI chr 9:21,329,665...21,335,404
Ensembl chr 9:21,320,024...21,335,404 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 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 HPO MIM:617760 ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:399103 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP HPO MIM:620232 NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO ORPHA:320396 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO MIM:615883 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,109 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 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: Ankle flexion contracture ClinVar PMID:25741868 PMID:27055666 PMID:28492532 PMID:31444731 PMID:31680349 More... NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:435938 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO MIM:117000 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO MIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO MIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO MIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SVIL supervillin IAGP HPO MIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog IAGP ClinVar Annotator: match by term: Ankle flexion contracture ClinVar PMID:25741868 PMID:35321494 NCBI chr 3:11,721,896...11,846,885
Ensembl chr 3:11,790,442...11,846,919 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO MIM:617072 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 HPO ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 IAGP HPO MIM:617802 NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752 		JBrowse link
Arthrogryposis multiplex congenita 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 HPO ORPHA:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G AC026369.1 novel transcript, antisense to IQSEC3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr12:137,411...149,169
Ensembl chr12:137,411...149,169 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 MIM:161800 ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 PMID:36945405 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 		ClinVar
HPO		 PMID:25741868 PMID:26004201 PMID:26752647 MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119 		JBrowse link
G AGTPBP1 ATP/GTP binding carboxypeptidase 1 IAGP HPO ORPHA:2254 NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO MIM:601110 ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123 PMID:35338657 MIM:616867 NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO MIM:615834 ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr15:33,851,781...34,075,325
Ensembl chr15:33,858,782...34,075,155 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar
HPO		 PMID:25741868 PMID:30054298 MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:25741868 PMID:31680123 MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP HPO MIM:618285 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G CDK5 cyclin dependent kinase 5 IAGP HPO MIM:616342 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897 		JBrowse link
G CEP55 centrosomal protein 55 IAGP HPO MIM:236500 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO MIM:254210 ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO MIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:608930 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO MIM:608931 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO MIM:601776 ORPHA:2953 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:25741868 PMID:31680123 MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:158810 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DQX1 DEAQ-box RNA dependent ATPase 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:74,518,131...74,526,231
Ensembl chr 2:74,518,131...74,526,281 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar Annotator: match by term: Arthrogryposis, congenital 		ClinVar PMID:25741868 PMID:31694722 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:243180 MIM:607598 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 ORPHA:1466 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 HPO ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO MIM:616570 ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 ORPHA:1466 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 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:25741868 PMID:28317099 PMID:31230720 MIM:208100 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G EXOC7 exocyst complex component 7 IAGP HPO MIM:619072 NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576 		JBrowse link
G EXOSC3 exosome component 3 IAGP HPO ORPHA:2254 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO ORPHA:2254 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO ORPHA:2254 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G F9 coagulation factor IX IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:31846234 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FBLN1 fibulin 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGF13 fibroblast growth factor 13 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:31846234 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO ORPHA:2771 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:608013 ORPHA:77260 ORPHA:85212 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita HPO
ClinVar		 PMID:25741868 PMID:28492532 PMID:31680123 PMID:37628374 MIM:232500 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GCN1 GCN1 activator of EIF2AK4 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr12:120,127,202...120,194,715
Ensembl chr12:120,127,202...120,194,715 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO MIM:608931 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GFRA4 GDNF family receptor alpha 4 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr20:3,659,248...3,663,399
Ensembl chr20:3,659,248...3,663,399 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:25741868 PMID:36945405 NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO MIM:253310 MIM:611890 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 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 HPO MIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO MIM:615330 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G INS insulin IAGP HPO ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G IQSEC3 IQ motif and Sec7 domain ArfGEF 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr12:66,767...178,455
Ensembl chr12:66,767...178,455 		JBrowse link
G IQSEC3-AS1 IQSEC3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr12:164,620...182,408 JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO MIM:226730 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:85201 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO MIM:619501 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO MIM:616258 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G KIF5C kinesin family member 5C IAGP HPO MIM:615282 NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759 		JBrowse link
G KLHL40 kelch like family member 40 IAGP HPO ORPHA:171430 NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO MIM:615731 ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO MIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:25741868 PMID:31680123 MIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171430 ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LOC125177481 Sharpr-MPRA regulatory region 245 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr17:42,683,771...42,684,065 JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:605275 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:615547 ORPHA:994 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:113,390,515...113,685,923
Ensembl chr 1:113,390,515...113,685,923 		JBrowse link
G MCF2 MCF.2 cell line derived transforming sequence IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:31846234 NCBI chr  X:139,581,770...139,708,167
Ensembl chr  X:139,581,770...139,708,216 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP HPO ORPHA:320375 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO MIM:614335 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 		ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:178110 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO MIM:158300 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar
HPO		 PMID:31260566 ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:25741868 PMID:27214504 PMID:31680123 ORPHA:562528 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NEB nebulin IAGP HPO MIM:256030 MIM:619334 ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO MIM:614262 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO MIM:618393 ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:616531 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 		ClinVar
HPO		 PMID:8423615 PMID:11152147 PMID:20813920 PMID:24155313 PMID:24726473 More... MIM:114300 ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO MIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma IAGP HPO MIM:611369 NCBI chr19:3,630,183...3,700,468
Ensembl chr19:3,630,183...3,700,468 		JBrowse link
G PLEC plectin IAGP HPO MIM:226730 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO ORPHA:2771 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO MIM:618265 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PRG4 proteoglycan 4 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar
HPO		 PMID:14504330 PMID:16945936 PMID:22678886 PMID:25741868 PMID:28492532 More... MIM:616326 ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RFT1 RFT1 homolog IAGP HPO ORPHA:244310 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO MIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:2567381 PMID:19454545 PMID:20839240 PMID:21911697 PMID:22473935 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G RYR3-DT RYR3 divergent transcript IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,303,657...33,310,659
Ensembl chr15:33,293,492...33,310,696 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO MIM:618766 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SENP7 SUMO specific peptidase 7 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr 3:101,324,205...101,513,212
Ensembl chr 3:101,324,205...101,513,241 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital ClinVar PMID:25741868 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SETBP1 SET binding protein 1 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SHPK sedoheptulokinase IAGP HPO ORPHA:440713 NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO ORPHA:2254 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC35A3 solute carrier family 35 member A3 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 		ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:615553 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO MIM:617143 ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO MIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:609136 ORPHA:163746 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPAG16 sperm associated antigen 16 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:213,284,464...214,410,501
Ensembl chr 2:213,284,389...214,410,501 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO MIM:618484 ORPHA:319332 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO MIM:617193 ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 		ClinVar
HPO		 PMID:25741868 MIM:601680 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 ClinVar Annotator: match by term: Arthrogryposis, congenital
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 		ClinVar PMID:25741868 PMID:28492532 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Arthrogryposis, congenital
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 		ClinVar
HPO		 PMID:11738357 PMID:17339586 PMID:23678273 PMID:23757202 PMID:24692096 More... MIM:108120 ORPHA:171436 ORPHA:171439 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171433 ORPHA:171439 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO MIM:617598 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO MIM:616866 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 MIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:166063 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301830 ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UNC50 unc-50 inner nuclear membrane RNA binding protein IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:98,608,589...98,618,515
Ensembl chr 2:98,608,579...98,618,515 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP HPO MIM:613404 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO MIM:208085 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO ORPHA:2254 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G ZBTB42 zinc finger and BTB domain containing 42 IAGP HPO MIM:616248 NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP HPO MIM:615095 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203 		JBrowse link
G ZNF875 zinc finger protein 875 IAGP ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 PMID:31680123 NCBI chr19:37,312,837...37,364,455
Ensembl chr19:37,312,837...37,369,365 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO ORPHA:2836 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
Arthrogryposis-like hand anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Arthrogryposis-like hand anomaly 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 MED13L mediator complex subunit 13L IAGP HPO ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO MIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		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 HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP HPO MIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G ZNF407 zinc finger protein 407 IAGP HPO MIM:619557 NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671 		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 HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:148820 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
Camptodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO MIM:617602 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO MIM:608104 ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO MIM:136760 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 HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:309510 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO MIM:618011 NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO MIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO MIM:604273 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO MIM:614175 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:309800 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BGN biglycan IAGP HPO MIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BHLHA9 basic helix-loop-helix family member a9 IAGP HPO MIM:607539 NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP HPO MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO MIM:617333 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO MIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO MIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP HPO MIM:619123 NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDH3 cadherin 3 IAGP HPO MIM:225280 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CDK13 cyclin dependent kinase 13 IAGP HPO MIM:617360 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CNTN1 contactin 1 IAGP HPO MIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:228520 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO MIM:615502 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO MIM:601390 ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DRG1 developmentally regulated GTP binding protein 1 IAGP HPO MIM:620641 NCBI chr22:31,399,604...31,434,452
Ensembl chr22:31,399,604...31,528,740 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO MIM:615539 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 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 HPO MIM:616894 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G DYM dymeclin IAGP HPO MIM:223800 NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO MIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EED embryonic ectoderm development IAGP HPO MIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807 		JBrowse link
G EPB41L1 erythrocyte membrane protein band 4.1 like 1 IAGP HPO MIM:614257 NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G EXOSC5 exosome component 5 IAGP HPO MIM:619576 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO MIM:616006 ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:154700 MIM:184900 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:207410 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:610474 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP HPO ORPHA:500095 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FLNA filamin A IAGP DNA:deletion:cds:c.4904_4912del (human) HPO
RGD		 PMID:15654694 ORPHA:88630, RGD:11565126 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO MIM:609033 ORPHA:88628 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLDN gliomedin IAGP HPO MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO MIM:610015 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO MIM:231070 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:301026 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP HPO MIM:617537 NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:610713 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619751 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO MIM:613385 ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KLHL7 kelch like family member 7 IAGP HPO MIM:617055 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:2199 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2199 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899 		JBrowse link
G KRT9 keratin 9 IAGP HPO ORPHA:2199 NCBI chr17:41,565,836...41,572,059
Ensembl chr17:41,565,836...41,572,059 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 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 HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP HPO MIM:619694 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:248370 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO MIM:601088 ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:615547 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO MIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED13L mediator complex subunit 13L IAGP HPO ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO MIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:620019 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MSL3 MSL complex subunit 3 IAGP HPO MIM:301032 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO MIM:614335 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:178110 MIM:193700 MIM:618436 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYO9A myosin IXA IAGP HPO MIM:618198 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:309800 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 HPO MIM:616266 ORPHA:562528 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO MIM:614262 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NKAP NFKB activating protein IAGP HPO MIM:301039 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G NUP188 nucleoporin 188 IAGP HPO MIM:618804 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO MIM:618393 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G NXN nucleoredoxin IAGP HPO MIM:618529 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO MIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO MIM:613800 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO MIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:248700 MIM:617146 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Camptodactyly ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 MIM:207410 ORPHA:95699 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 HPO MIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO MIM:619420 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO MIM:618761 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:113000 MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:435938 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO MIM:612313 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO MIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO MIM:182212 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:139210 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G SNX14 sorting nexin 14 IAGP HPO MIM:616354 ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
G SPART spartin IAGP HPO MIM:275900 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP HPO MIM:618786 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO MIM:614815 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO MIM:616145 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO MIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		JBrowse link
G TNNC2 troponin C2, fast skeletal type IAGP HPO MIM:620161 NCBI chr20:45,823,214...45,833,306
Ensembl chr20:45,823,214...45,833,745 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO MIM:618435 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:603543 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 HPO MIM:108120 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:200110 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO MIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WIPI2 WD repeat domain, phosphoinositide interacting 2 IAGP HPO MIM:618453 NCBI chr 7:5,190,233...5,233,855
Ensembl chr 7:5,190,196...5,233,840 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO MIM:609637 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Camptodactyly of 2nd-5th fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
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...166,182,806 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO MIM:206920 ORPHA:1106 NCBI chr14:69,879,416...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 HPO ORPHA:2604 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 HPO ORPHA:2136 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 HPO MIM:231050 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 HPO ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 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 HPO ORPHA:2176 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 HPO ORPHA:251056 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 HPO ORPHA:568 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 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 HPO ORPHA:1425 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO MIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO MIM:208230 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 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 HPO ORPHA:2990 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 HPO MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO ORPHA:1545 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:2021 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO ORPHA:2021 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:158810 ORPHA:610 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 HPO ORPHA:610 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 HPO ORPHA:610 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 HPO ORPHA:261330 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 HPO ORPHA:1545 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029 		JBrowse link
G CUL4B cullin 4B IAGP HPO ORPHA:85293 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 HPO ORPHA:246 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 HPO ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 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 HPO ORPHA:3107 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 HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO ORPHA:1520 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 HPO ORPHA:1270 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 ORPHA:1466 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 HPO MIM:610756 ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO ORPHA:3447 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 ORPHA:115 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 HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:166250 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:85164 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:272 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300244 MIM:305620 ORPHA:1826 ORPHA:90652 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 HPO ORPHA:3107 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 HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:3250 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 HPO ORPHA:2710 ORPHA:93404 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 HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:373 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 HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO MIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 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 HPO MIM:186300 ORPHA:93406 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 HPO ORPHA:1606 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 HPO ORPHA:217085 ORPHA:217093 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 HPO MIM:607015 ORPHA:93473 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP HPO MIM:604320 NCBI chr11:68,903,891...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 HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IPO8 importin 8 IAGP HPO ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:3047 NCBI chr10:74,824,936...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 HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO ORPHA:85279 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO ORPHA:2466 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 HPO ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:226650 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:2311 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 HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:93405 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 HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:994 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 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 HPO ORPHA:2273 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 HPO ORPHA:776 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 HPO MIM:614399 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO ORPHA:65759 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
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 finger 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 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-TA mitochondrially encoded tRNA-Ala (GCN) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,587...5,655
Ensembl chr MT:5,587...5,655 		JBrowse link
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G MT-TD mitochondrially encoded tRNA-Asp (GAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,518...7,585
Ensembl chr MT:7,518...7,585 		JBrowse link
G MT-TG mitochondrially encoded tRNA-Gly (GGN) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TM mitochondrially encoded tRNA-Met (AUA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,402...4,469
Ensembl chr MT:4,402...4,469 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TR mitochondrially encoded tRNA-Arg (CGN) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,405...10,469
Ensembl chr MT:10,405...10,469 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) IAGP ClinVar Annotator: match by term: Camptodactyly of finger ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO ORPHA:1146 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:1146 ORPHA:2053 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO ORPHA:994 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 HPO ORPHA:568 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 HPO ORPHA:1146 ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:186580 ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOG noggin IAGP HPO ORPHA:3250 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:1617 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:3447 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:2065 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO MIM:309000 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 HPO ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 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 HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:148820 ORPHA:1529 ORPHA:896 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:114300 ORPHA:2461 ORPHA:376 NCBI chr18:10,670,247...11,149,569
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 Annotator: match by term: Camptodactyly of finger 		ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 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 HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO ORPHA:65759 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO MIM:619420 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:994 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 HPO ORPHA:1606 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 HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO ORPHA:137834 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:93405 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 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 HPO ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 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 HPO MIM:615553 NCBI chr 1:99,969,996...100,035,634
Ensembl chr 1:99,969,351...100,035,634 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO MIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:60030 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:284984 ORPHA:60030 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMARCAD1 SNF2 related chromatin remodeling ATPase with DExD box 1 IAGP HPO ORPHA:1658 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 HPO MIM:616920 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 HPO ORPHA:1606 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 HPO ORPHA:3447 NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO MIM:619323 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 HPO ORPHA:1617 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 HPO ORPHA:3138 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 HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TDO2 tryptophan 2,3-dioxygenase IAGP HPO MIM:600627 NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:60030 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:60030 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:60030 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:60030 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO ORPHA:1194 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 HPO MIM:601680 ORPHA:1146 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP HPO ORPHA:1146 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO MIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:1146 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 HPO ORPHA:2065 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 HPO ORPHA:77258 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 HPO ORPHA:2635 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:600638 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 HPO ORPHA:920 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 HPO ORPHA:1606 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 HPO ORPHA:776 NCBI chr  X:119,805,311...119,852,963
Ensembl chr  X:119,834,022...119,852,998 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO ORPHA:1425 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO ORPHA:776 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 HPO ORPHA:1662 NCBI chr 1:40,258,236...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 HPO MIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:158687 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:610474 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300244 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 HPO MIM:175700 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G JUP junction plakoglobin IAGP HPO ORPHA:158687 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 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 HPO ORPHA:127 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 HPO MIM:114300 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO ORPHA:2848 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
Claw hand deformity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO MIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:605285 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO MIM:606595 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813 		JBrowse link
G INF2 inverted formin 2 IAGP HPO MIM:614455 NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP HPO MIM:601455 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G PDXK pyridoxal kinase IAGP HPO MIM:618511 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO MIM:605726 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:620528 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
Congenital contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:619036 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP HPO MIM:618285 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Congenital contracture ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:615368 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO MIM:615042 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO MIM:208100 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:236670 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:236670 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Congenital contractures ClinVar PMID:25741868 PMID:28726266 PMID:32812332 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO MIM:616165 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH2 myosin heavy chain 2 IAGP HPO MIM:605637 NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:616266 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NEB nebulin IAGP HPO MIM:256030 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G PAX7 paired box 7 IAGP HPO MIM:618578 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Congenital contracture
ClinVar Annotator: match by term: Congenital contractures 		ClinVar
HPO		 PMID:28492532 MIM:248700 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:236670 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO MIM:236670 MIM:613150 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Congenital contractures ClinVar PMID:19191333 PMID:25741868 PMID:28492532 PMID:32403337 PMID:33333461 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP HPO MIM:620310 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Congenital joint contractures ClinVar PMID:17561957 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Congenital contractures ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO MIM:225753 MIM:277470 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO MIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G ZBTB42 zinc finger and BTB domain containing 42 IAGP HPO MIM:616248 NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712 		JBrowse link
Congenital finger flexion contractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 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 HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 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 HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 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 HPO MIM:108145 ORPHA:1154 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO MIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO MIM:615582 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 contraction deformities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICD2 BICD cargo adaptor 2 IAGP HPO ORPHA:363454 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		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 HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:314580 ORPHA:3454 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 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		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 IDUA alpha-L-iduronidase IAGP HPO MIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO MIM:605130 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO MIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		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 COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO MIM:609813 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 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 HPO MIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		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 COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:130060 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO MIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		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 HPO MIM:300166 NCBI chr  X:40,051,246...40,177,329
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 HPO MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO MIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G KDM5B lysine demethylase 5B IAGP HPO MIM:618109 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO MIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TLK2 tousled like kinase 2 IAGP HPO MIM:618050 NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481 		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 HPO ORPHA:457279 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 ARPC4 actin related protein 2/3 complex subunit 4 IAGP HPO MIM:620141 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 IAGP HPO MIM:619598 NCBI chr14:52,775,193...52,791,607
Ensembl chr14:52,775,193...52,791,668 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:186000 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G KDM5B lysine demethylase 5B IAGP HPO MIM:618109 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
Contractures of the large joints term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC2 chloride intracellular channel 2 IAGP HPO ORPHA:324410 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:616716 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
Decreased cervical spine flexion due to contractures of posterior cervical muscles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin IAGP HPO MIM:310300 ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G PLEC plectin IAGP HPO ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
Digital flexor tenosynovitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD244 CD244 molecule IAGP HPO MIM:180300 NCBI chr 1:160,830,160...160,862,887
Ensembl chr 1:160,830,160...160,862,887 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO MIM:180300 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G IL10 interleukin 10 IAGP HPO MIM:180300 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 IAGP HPO MIM:180300 NCBI chr 6:31,546,851...31,558,829
Ensembl chr 6:31,546,870...31,558,829 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO MIM:180300 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP HPO MIM:180300 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G TTR transthyretin IAGP HPO MIM:115430 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Distal arthrogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO ORPHA:42 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ADCY6 adenylate cyclase 6 IAGP HPO MIM:616287 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO ORPHA:98889 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO MIM:618011 NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO MIM:601776 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:616286 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO MIM:616276 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:611228 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GLDN gliomedin IAGP HPO MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G KLHL7 kelch like family member 7 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213 PMID:25741868 PMID:29074562 PMID:39825153 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LOC112441444 Sharpr-MPRA regulatory region 9884 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr16:30,377,708...30,378,190 JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:605275 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar
HPO		 PMID:25741868 MIM:614335 MIM:614915 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 PMID:28492532 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP HPO MIM:158300 MIM:608837 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYL11 myosin light chain 11 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:32707087 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYO9A myosin IXA IAGP HPO MIM:618198 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO MIM:618975 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:98889 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar
HPO		 PMID:25741868 MIM:108145 MIM:114300 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO MIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:98889 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Distal arthrogryposis ClinVar
HPO		 PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868 MIM:601680 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO MIM:617557 ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		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 HPO ORPHA:100991 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
Elbow contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:158810 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 HPO MIM:620725 MIM:620727 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COX11 cytochrome c oxidase copper chaperone COX11 IAGP HPO MIM:620275 NCBI chr17:54,951,902...54,968,785
Ensembl chr17:54,951,902...54,968,703 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:606612 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FLNA filamin A IAGP HPO MIM:304120 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:616489 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 MIM:613205 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO MIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO MIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:178110 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611523 NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP HPO MIM:620310 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SIK3 SIK family kinase 3 IAGP HPO MIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SNUPN snurportin 1 IAGP HPO MIM:620793 NCBI chr15:75,598,086...75,626,461
Ensembl chr15:75,598,083...75,626,469 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO MIM:612713 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:620386 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
Elbow extension contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		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 HPO ORPHA:2020 ORPHA:97244 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 HPO ORPHA:447757 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO MIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Elbow flexion contracture ClinVar
HPO		 PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:610 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO MIM:272430 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 MIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:206546 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO MIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EMD emerin IAGP HPO MIM:310300 ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:184900 MIM:608328 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO MIM:618156 NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO MIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO MIM:148210 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GLDN gliomedin IAGP HPO MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 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 HPO MIM:619194 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 HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KIF22 kinesin family member 22 IAGP HPO ORPHA:93360 NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO MIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO MIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 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 HPO MIM:601559 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations, nonsense mutation:cds:multiple HPO
RGD		 PMID:10080180 MIM:248370 MIM:616516 ORPHA:98853 ORPHA:98855, RGD:12791020 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:178110 MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO MIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:616266 ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO MIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO MIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO MIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 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 HPO MIM:609220 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO MIM:612394 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 HPO ORPHA:95699 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 HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO MIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO MIM:614438 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 MIM:226960 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO MIM:618022 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Fixed flexion at the elbow joint ClinVar NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO MIM:619303 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO MIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SPRTN SprT-like N-terminal domain IAGP HPO MIM:616200 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023 		JBrowse link
G SVIL supervillin IAGP HPO MIM:619040 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 HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO MIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TMEM222 transmembrane protein 222 IAGP HPO MIM:619470 NCBI chr 1:27,322,163...27,336,400
Ensembl chr 1:27,322,145...27,336,400 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:184252 MIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO MIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Finger joint contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:158810 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO MIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 MIM:212112 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		JBrowse link
Flexion contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:25741868 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain IAGP HPO MIM:201470 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADCY6 adenylate cyclase 6 IAGP HPO MIM:616287 NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO ORPHA:98889 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G AHSG alpha 2-HS glycoprotein IAGP HPO ORPHA:2850 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO MIM:300232 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 IAGP HPO MIM:618006 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834 		JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO MIM:270200 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO MIM:608540 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:300884 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:353327 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:353327 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO MIM:601110 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO MIM:263210 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ANKRD55 ankyrin repeat domain 55 IAGP HPO ORPHA:85408 NCBI chr 5:56,099,680...56,233,330
Ensembl chr 5:56,099,680...56,233,330 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO MIM:228600 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO MIM:614066 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO MIM:613744 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO MIM:614067 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:309510 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO ORPHA:2590 ORPHA:333 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ASCC1 activating signal cointegrator 1 complex subunit 1 IAGP HPO MIM:616867 NCBI chr10:72,096,032...72,217,134
Ensembl chr10:72,096,032...72,217,134 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATAD1 ATPase family AAA domain containing 1 IAGP HPO MIM:618011 NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO MIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 IAGP HPO MIM:601003 NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO MIM:604273 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:271640 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO MIM:130070 ORPHA:75496 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP HPO MIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 ORPHA:363454 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO MIM:255200 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO MIM:617106 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO MIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CAPN3 calpain 3 IAGP HPO MIM:253600 ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO MIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220393 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO MIM:613327 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 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 HPO ORPHA:220393 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CD247 CD247 molecule IAGP HPO ORPHA:85408 NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO MIM:616313 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO MIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:253290 MIM:265000 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 HPO MIM:143095 ORPHA:263463 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP HPO ORPHA:1545 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CLDN11 claudin 11 IAGP HPO MIM:619328 NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO MIM:215150 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO MIM:616470 MIM:616471 ORPHA:536516 ORPHA:610 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:609162 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO MIM:254090 ORPHA:610 ORPHA:75840 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 HPO ORPHA:610 ORPHA:75840 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 HPO ORPHA:610 ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO MIM:226600 ORPHA:79408 ORPHA:89842 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G COQ7 coenzyme Q7, hydroxylase IAGP HPO MIM:616733 NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095 		JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 MIM:618332 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CRLF1 cytokine receptor like factor 1 IAGP HPO ORPHA:1545 NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611105 ORPHA:137898 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DCX doublecortin IAGP HPO ORPHA:2148 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP HPO MIM:618404 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565 		JBrowse link
G DMD dystrophin IAGP HPO MIM:310200 ORPHA:98896 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP HPO MIM:603511 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:160150 MIM:615368 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO MIM:608093 ORPHA:353327 ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DRG1 developmentally regulated GTP binding protein 1 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr22:31,399,604...31,434,452
Ensembl chr22:31,399,604...31,528,740 		JBrowse link
G DST dystonin IAGP HPO MIM:614653 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ECE1 endothelin converting enzyme 1 IAGP HPO MIM:613870 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G EED embryonic ectoderm development IAGP HPO MIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807 		JBrowse link
G ELN elastin IAGP HPO MIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 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 HPO MIM:601675 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:278760 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 ORPHA:90322 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90322 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar
HPO		 ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G EXOC2 exocyst complex component 2 IAGP HPO MIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
G EXOC8 exocyst complex component 8 IAGP HPO MIM:619076 NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852 		JBrowse link
G EXOSC3 exosome component 3 IAGP HPO MIM:614678 NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO MIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:26489027 PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:154700 ORPHA:284979 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO ORPHA:115 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBN3 fibrillin 3 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:26752647 PMID:28492532 NCBI chr19:8,065,402...8,149,592
Ensembl chr19:8,065,402...8,149,592 		JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:207410 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300717 MIM:300718 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FITM2 fat storage inducing transmembrane protein 2 IAGP HPO MIM:618635 NCBI chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202 		JBrowse link
G FKRP fukutin related protein IAGP DNA:missense mutation: :p.A455D(human) RGD PMID:14652796 RGD:1358626 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:253800 MIM:611588 ORPHA:272 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar
HPO		 PMID:25741868 ORPHA:88630 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO MIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP HPO MIM:619124 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77260 ORPHA:85212 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP HPO MIM:232500 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO MIM:607706 ORPHA:101097 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:200700 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO ORPHA:353327 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar
HPO		 PMID:25741868 PMID:28726266 PMID:32812332 MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO MIM:610015 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:353327 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 HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO MIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:423461 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GOLGA2 golgin A2 IAGP HPO MIM:620240 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 IAGP HPO MIM:616281 NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289 		JBrowse link
G GRID2 glutamate ionotropic receptor delta type subunit 2 IAGP HPO MIM:616204 NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157 		JBrowse link
G GUSB glucuronidase beta IAGP HPO MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO ORPHA:98791 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO ORPHA:98791 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:220393 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HOXA11 homeobox A11 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP HPO MIM:619026 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP HPO MIM:612233 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO MIM:309900 ORPHA:217085 ORPHA:217093 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 HPO MIM:607014 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO ORPHA:85408 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO ORPHA:85408 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:158684 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G ITGB6 integrin subunit beta 6 IAGP HPO ORPHA:2850 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO MIM:618856 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 IAGP HPO MIM:614098 ORPHA:435628 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO MIM:618658 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO MIM:619479 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF1A kinesin family member 1A IAGP HPO MIM:614255 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KLC2 kinesin light chain 2 IAGP HPO MIM:609541 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KLHL40 kelch like family member 40 IAGP HPO MIM:615348 ORPHA:171430 NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:79503 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO MIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO MIM:607855 ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:613154 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO MIM:166700 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 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 HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMNA lamin A/C IAGP DNA:frameshift mutation:cds:c.625_626delA HPO
RGD		 PMID:17701980 MIM:248370 ORPHA:157973 ORPHA:90153, RGD:12791273 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO MIM:616165 ORPHA:171430 ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC107126281 NUP98-HOXA11 recombination region IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr 7:27,183,029...27,185,218 JBrowse link
G LOC126860282 BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr 8:2,105,593...2,106,791 JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LPIN2 lipin 2 IAGP HPO MIM:609628 ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:2850 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO ORPHA:98896 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:615547 ORPHA:398069 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP HPO MIM:614202 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:300055 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:309520 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:609260 ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MID1IP1 MID1 interacting protein 1 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr  X:38,801,459...38,806,532
Ensembl chr  X:38,801,440...38,806,537 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO MIM:609180 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO MIM:310400 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO MIM:160150 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MTX2 metaxin 2 IAGP HPO MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:616325 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO MIM:614915 MIM:618524 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYBPC2 myosin binding protein C2 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:26752647 NCBI chr19:50,432,892...50,466,321
Ensembl chr19:50,432,892...50,466,321 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:618469 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH7B myosin heavy chain 7B IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:25741868 PMID:26752647 PMID:28492532 NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO MIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO MIM:616549 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G MYO9A myosin IXA IAGP ClinVar Annotator: match by term: Contractures
ClinVar Annotator: match by term: Flexion contracture 		ClinVar PMID:25741868 PMID:26752647 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYOM2 myomesin 2 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr 8:2,045,046...2,145,456
Ensembl chr 8:2,045,046...2,165,552 		JBrowse link
G MYOM3 myomesin 3 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:25741868 NCBI chr 1:24,056,041...24,112,135
Ensembl chr 1:24,056,035...24,112,135 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP HPO ORPHA:500545 NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:562528 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 IAGP HPO MIM:619091 NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO MIM:618237 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NEB nebulin IAGP HPO MIM:256030 ORPHA:171430 ORPHA:171433 ORPHA:171436 ORPHA:171439 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:607684 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO MIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO ORPHA:1344 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NR2C1 nuclear receptor subfamily 2 group C member 1 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr12:95,020,229...95,073,618
Ensembl chr12:95,020,229...95,073,628 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 IAGP HPO MIM:620001 NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO MIM:613162 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO MIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO MIM:617452 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP HPO MIM:618298 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:98889 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:617146 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 MIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO MIM:617599 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLEC plectin IAGP HPO MIM:612138 MIM:613723 ORPHA:158684 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO MIM:609220 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312920 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO MIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO MIM:615249 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:609308 MIM:613155 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO MIM:613156 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO MIM:617396 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:207410 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP HPO MIM:256730 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260 		JBrowse link
G PRDM2 PR/SET domain 2 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr 1:13,700,188...13,825,079
Ensembl chr 1:13,700,188...13,825,079 		JBrowse link
G PSD3 pleckstrin and Sec7 domain containing 3 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:26752647 NCBI chr 8:18,527,303...19,084,805
Ensembl chr 8:18,527,303...19,084,730 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP HPO MIM:617591 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO MIM:619183 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP HPO MIM:609069 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 IAGP HPO ORPHA:85408 NCBI chr18:12,785,478...12,884,237
Ensembl chr18:12,785,478...12,929,643 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:85408 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO MIM:614438 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO MIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:614225 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO MIM:618388 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO MIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G RNF13 ring finger protein 13 IAGP HPO MIM:618379 ORPHA:544503 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RTTN rotatin IAGP HPO MIM:614833 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:98905 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:25741868 PMID:28492532 PMID:29498452 PMID:31230720 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO MIM:612952 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620369 ORPHA:682 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:1344 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO MIM:252011 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:619224 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO MIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166 		JBrowse link
G SELENON selenoprotein N IAGP HPO MIM:602771 ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO MIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCG sarcoglycan gamma IAGP HPO MIM:253700 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHPK sedoheptulokinase IAGP HPO ORPHA:440713 NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO MIM:248800 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO MIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO MIM:300523 ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO MIM:617105 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO MIM:607196 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO MIM:616505 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:93307 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO MIM:208050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO ORPHA:157965 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO MIM:300243 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP HPO ORPHA:87503 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO MIM:619293 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SPART spartin IAGP HPO MIM:275900 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More... NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP HPO ORPHA:98889 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO MIM:255995 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:85408 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:160565 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO MIM:618484 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYT2 synaptotagmin 2 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO MIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO MIM:615663 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO MIM:242300 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO MIM:617562 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM214 transmembrane protein 214 IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar NCBI chr 2:27,032,965...27,041,694
Ensembl chr 2:27,032,910...27,041,694 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO ORPHA:1194 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783 		JBrowse link
G TOR1A torsin family 1 member A IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar
HPO		 MIM:618947 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171436 ORPHA:171439 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO MIM:609284 ORPHA:171433 ORPHA:171439 ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRAK1 trafficking kinesin protein 1 IAGP HPO MIM:618201 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,624...42,225,890 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO MIM:616866 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO MIM:614594 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:156530 MIM:168400 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301830 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO MIM:615491 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO MIM:618323 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 IAGP HPO MIM:310440 NCBI chr  X:151,396,595...151,409,364
Ensembl chr  X:151,396,515...151,409,364 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:616683 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO MIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS53 VPS53 subunit of GARP complex IAGP HPO MIM:615851 NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717 		JBrowse link
G VPS8 VPS8 subunit of CORVET complex IAGP ClinVar Annotator: match by term: Flexion contracture ClinVar PMID:26752647 NCBI chr 3:184,812,166...185,052,614
Ensembl chr 3:184,812,143...185,052,614 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP HPO MIM:619216 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO MIM:618346 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 ORPHA:3042 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:275210 MIM:608612 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO ORPHA:2836 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP HPO MIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039 		JBrowse link
Flexion contracture of digit term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PERP p53 apoptosis effector related to PMP22 IAGP HPO MIM:619208 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419 		JBrowse link
G SMARCAD1 SNF2 related chromatin remodeling ATPase with DExD box 1 IAGP HPO MIM:129200 NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292 		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 HPO ORPHA:2020 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 HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 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 HPO MIM:618175 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 HPO ORPHA:254528 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 HPO ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO MIM:609033 ORPHA:88628 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:1010 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GLDN gliomedin IAGP HPO MIM:617194 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 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 HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:101085 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:148820 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SVIL supervillin IAGP HPO MIM:619040 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 HPO MIM:618484 ORPHA:319332 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
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 HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
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 HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		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 HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP HPO MIM:619376 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 HPO MIM:610758 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 HPO ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:608328 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 HPO MIM:255800 ORPHA:800 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 HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:186580 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO ORPHA:320396 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO MIM:619323 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 HPO MIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
Foot joint contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAS3 BCAS3 microtubule associated cell migration factor IAGP HPO MIM:619641 NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220402 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 HPO ORPHA:220402 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 HPO ORPHA:220402 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 HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO ORPHA:320380 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90321 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90321 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 HPO ORPHA:220402 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220402 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 HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:220402 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO MIM:614335 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
Forearm supination contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300695 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		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 HPO ORPHA:139396 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:97244 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 HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G DMD dystrophin IAGP HPO MIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300696 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:613205 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO MIM:210000 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:97244 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 HPO ORPHA:2020 ORPHA:97244 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 HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169186 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:156550 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO MIM:620727 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 HPO MIM:620728 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169805 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 HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO MIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO MIM:619042 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 HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO MIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 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 HPO MIM:619194 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 HPO MIM:255800 ORPHA:800 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 HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO MIM:606170 ORPHA:85201 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 MIM:613205 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO MIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:178110 MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO MIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:616266 ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP HPO MIM:620232 NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO MIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO MIM:616809 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 HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:156400 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,750...35,658,019 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 MIM:616651 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:169186 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...166,182,806 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620351 MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 ORPHA:97244 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:222600 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 HPO MIM:617301 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 HPO MIM:615959 ORPHA:169186 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:605355 MIM:620386 ORPHA:98902 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TTN titin IAGP HPO ORPHA:169186 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 HPO ORPHA:1145 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 HPO MIM:616801 ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 ORPHA:3042 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO MIM:301041 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 COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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 HPO MIM:620725 ORPHA:610 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 HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:2199 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2199 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899 		JBrowse link
G KRT9 keratin 9 IAGP HPO ORPHA:2199 NCBI chr17:41,565,836...41,572,059
Ensembl chr17:41,565,836...41,572,059 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 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 HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
Interphalangeal thumb joint contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECE1 endothelin converting enzyme 1 IAGP HPO MIM:613870 NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
Jaw contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTN1 contactin 1 IAGP HPO MIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
Joint contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER3 alkaline ceramidase 3 IAGP HPO MIM:617762 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 IAGP HPO MIM:260600 NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO MIM:608540 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO MIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BGN biglycan IAGP HPO MIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BRAT1 BRCA1 associated ATM activator 1 IAGP HPO MIM:614498 NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO MIM:618266 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G COG3 component of oligomeric golgi complex 3 IAGP HPO MIM:620546 NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:620726 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DDC dopa decarboxylase IAGP HPO ORPHA:35708 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO MIM:614457 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO MIM:611225 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G EXOSC8 exosome component 8 IAGP HPO MIM:616081 NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881 		JBrowse link
G FAM111B FAM111 trypsin like peptidase B IAGP HPO MIM:615704 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		JBrowse link
G FCSK fucose kinase IAGP HPO MIM:618324 NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Contracture ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNC filamin C IAGP HPO ORPHA:171445 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO MIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO MIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO MIM:615351 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 IAGP HPO MIM:617864 NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090 		JBrowse link
G GSC goosecoid homeobox IAGP HPO MIM:602471 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP HPO MIM:616881 NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943 		JBrowse link
G KLHL7 kelch like family member 7 IAGP HPO MIM:617055 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G LIAS lipoic acid synthetase IAGP HPO MIM:614462 NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:616516 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 IAGP HPO MIM:617664 NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150 		JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP HPO MIM:617393 NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:615419 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO MIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804 		JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147 		JBrowse link
G PCNA proliferating cell nuclear antigen IAGP HPO MIM:615919 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO MIM:617481 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SNUPN snurportin 1 IAGP HPO MIM:620793 NCBI chr15:75,598,086...75,626,461
Ensembl chr15:75,598,083...75,626,469 		JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Contracture ClinVar PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More... NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G SPTSSA serine palmitoyltransferase small subunit A IAGP HPO MIM:620417 NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO MIM:620443 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:160565 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TNPO3 transportin 3 IAGP HPO MIM:608423 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO MIM:617072 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 HPO MIM:609285 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO MIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO MIM:617066 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TTN titin IAGP HPO MIM:611705 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G WDR45B WD repeat domain 45B IAGP HPO MIM:617977 NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553 		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 HPO MIM:618914 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 HPO ORPHA:352490 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 HPO ORPHA:363611 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 HPO MIM:618914 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 HPO MIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO MIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO MIM:619934 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO MIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO MIM:619562 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP HPO MIM:300799 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 ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO ORPHA:363528 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO MIM:601110 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 HPO MIM:136760 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 HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP HPO ORPHA:352490 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:271640 MIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:309800 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220402 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 HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220402 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 HPO MIM:208230 ORPHA:1159 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 HPO ORPHA:220402 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 HPO MIM:225280 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468 		JBrowse link
G CNTN1 contactin 1 IAGP HPO MIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:228520 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DLG5 discs large MAGUK scaffold protein 5 IAGP HPO MIM:620703 NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,791...77,926,755 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO MIM:609033 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP HPO ORPHA:99948 NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:175700 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:220402 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO MIM:610099 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:186300 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 HPO MIM:255800 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 HPO MIM:618523 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 HPO ORPHA:220402 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 HPO ORPHA:220402 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO ORPHA:466768 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO MIM:614335 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:309800 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 HPO MIM:309000 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 HPO MIM:224690 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G PAX3 paired box 3 IAGP HPO MIM:148820 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 HPO MIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:248700 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP HPO MIM:611067 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO ORPHA:90658 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 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 HPO MIM:309500 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 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 HPO MIM:113000 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO MIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO MIM:182212 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO MIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO MIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:603543 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 HPO MIM:108120 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 HPO MIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO MIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO MIM:251300 NCBI chr15:84,639,285...84,654,283
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 HPO ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:353327 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO MIM:616228 ORPHA:353327 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 HPO MIM:616681 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 HPO MIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO MIM:612954 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 HPO MIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:615043 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO MIM:616313 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:616286 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:75840 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 HPO ORPHA:75840 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 HPO ORPHA:75840 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 HPO MIM:608836 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 HPO MIM:271665 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 HPO MIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DMD dystrophin IAGP HPO MIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:353327 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO MIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G EMD emerin IAGP HPO MIM:310300 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP HPO ORPHA:401785 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 HPO ORPHA:209951 ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:184900 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 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 HPO MIM:618156 NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300695 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO MIM:259450 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213 		JBrowse link
G FLNA filamin A IAGP DNA:deletion:cds:c.4904_4912del (human) HPO
RGD		 PMID:15654694 MIM:305620, 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 HPO ORPHA:353327 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 HPO MIM:148210 ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:353327 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 HPO MIM:619503 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 HPO MIM:252600 ORPHA:576 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 HPO ORPHA:2020 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 HPO MIM:619194 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 HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple HPO
RGD		 PMID:22265017 MIM:606170 ORPHA:85201, RGD:9588485 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO ORPHA:496689 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO MIM:617468 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 HPO MIM:601559 ORPHA:3206 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LMBRD2 LMBR1 domain containing 2 IAGP HPO MIM:619694 NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP HPO MIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:178110 MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO MIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYO9A myosin IXA IAGP HPO MIM:618198 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO MIM:616266 ORPHA:371364 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP HPO MIM:620232 NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO ORPHA:320396 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:616531 MIM:619621 MIM:619708 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:114300 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO MIM:616809 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 HPO MIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO MIM:609220 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 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 HPO MIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:156400 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:435938 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
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 HPO MIM:600920 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...166,182,806 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:3208 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP HPO ORPHA:3208 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 HPO ORPHA:3208 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:3208 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 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 HPO MIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO MIM:617239 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 HPO MIM:619303 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 HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO MIM:616330 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO MIM:612713 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G STX5 syntaxin 5 IAGP HPO MIM:620454 NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051 		JBrowse link
G SVIL supervillin IAGP HPO MIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO MIM:619461 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:108120 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIM2 tripartite motif containing 2 IAGP HPO MIM:615490 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 HPO MIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G UNC80 unc-80 homolog, NALCN channel complex subunit IAGP HPO ORPHA:371364 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
Limb joint contracture 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 HPO MIM:205100 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G ARX aristaless related homeobox IAGP HPO MIM:300004 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G CAMLG calcium modulating ligand IAGP HPO MIM:620201 NCBI chr 5:134,738,548...134,752,157
Ensembl chr 5:134,738,495...134,752,157 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:251393 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:280384 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO MIM:619814 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309162 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:251393 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO MIM:617282 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MED11 mediator complex subunit 11 IAGP HPO MIM:620327 NCBI chr17:4,731,428...4,733,607
Ensembl chr17:4,731,428...4,733,608 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO MIM:612079 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO MIM:613811 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SNUPN snurportin 1 IAGP HPO MIM:620793 NCBI chr15:75,598,086...75,626,461
Ensembl chr15:75,598,083...75,626,469 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO MIM:255310 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:275210 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Lower-limb joint contracture 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 HPO ORPHA:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Contractures of the joints of the lower limbs
ClinVar Annotator: match by term: Lower-limb joint contracture 		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 HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G INS insulin IAGP HPO ORPHA:99885 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 HPO ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO ORPHA:459070 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 HPO ORPHA:300605 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 HPO MIM:613710 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
Multiple joint contractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:616227 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:265000 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 HPO ORPHA:536516 ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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 HPO ORPHA:610 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 ClinVar Annotator: match by term: Multiple joint contractures ClinVar
HPO		 PMID:28492532 PMID:31230720 ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO ORPHA:352470 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G EXOSC9 exosome component 9 IAGP HPO MIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370968 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FLNA filamin A IAGP HPO MIM:300244 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP HPO ORPHA:320406 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Multiple joint contractures ClinVar PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680349 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP HPO ORPHA:2570 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G KLC2 kinesin light chain 2 IAGP HPO ORPHA:320406 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO MIM:617114 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 HPO ORPHA:370968 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP ClinVar Annotator: match by term: Multiple joint contractures ClinVar
HPO		 PMID:24076603 PMID:25741868 PMID:26365340 PMID:27195816 PMID:28492532 More... ORPHA:994 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:305450 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYBPC1 myosin binding protein C1 IAGP HPO MIM:614915 NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:324604 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G MYOT myotilin IAGP HPO ORPHA:98911 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO MIM:605013 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NKAP NFKB activating protein IAGP DNA:missense mutations:exon 8-9:multiple (human) RGD PMID:31587868 RGD:155641252 NCBI chr  X:119,920,672...119,943,751
Ensembl chr  X:119,920,672...119,943,751 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO MIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma IAGP HPO MIM:611369 NCBI chr19:3,630,183...3,700,468
Ensembl chr19:3,630,183...3,700,468 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370968 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370968 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908 		JBrowse link
G RFC1 replication factor C subunit 1 IAGP HPO ORPHA:504476 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:424107 ORPHA:597 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:324604 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO ORPHA:447997 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO ORPHA:521406 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:100976 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO ORPHA:486815 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TTN titin IAGP HPO ORPHA:324604 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301830 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Neck joint contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain IAGP HPO MIM:255600 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO ORPHA:209951 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
Plantar flexion contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP1 receptor accessory protein 1 IAGP HPO MIM:620011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
Progressive flexion contractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO MIM:228600 ORPHA:2028 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G SYT1 synaptotagmin 1 IAGP HPO ORPHA:522077 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008 		JBrowse link
Shoulder contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain IAGP HPO MIM:620727 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO MIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		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 HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO MIM:617114 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 HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:620369 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:605355 ORPHA:98902 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
Tendon rupture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO MIM:620080 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G THBS2 thrombospondin 2 IAGP HPO MIM:620865 NCBI chr 6:169,215,785...169,253,846
Ensembl chr 6:169,215,780...169,254,050 		JBrowse link
G TTR transthyretin IAGP HPO ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Tendon thickening term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain IAGP HPO ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:530838 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
Tendon xanthomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO MIM:618666 ORPHA:391665 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO ORPHA:391665 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO MIM:618463 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA2 apolipoprotein A2 IAGP HPO MIM:143890 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631 		JBrowse link
G APOB apolipoprotein B IAGP HPO ORPHA:391665 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP HPO MIM:143890 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,548,615 		JBrowse link
G GHR growth hormone receptor IAGP HPO MIM:143890 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G LDLR low density lipoprotein receptor IAGP HPO MIM:143890 ORPHA:391665 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP HPO MIM:603813 ORPHA:391665 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,604...25,591,200 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO MIM:603776 ORPHA:391665 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852 		JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP HPO MIM:143890 NCBI chr 7:31,687,215...31,708,455
Ensembl chr 7:31,687,215...31,708,455 		JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO MIM:277460 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		JBrowse link
Tendonitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:186580 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
Thickened Achilles tendon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGD homogentisate 1,2-dioxygenase IAGP HPO MIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KRT1 keratin 1 IAGP HPO ORPHA:530838 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407 		JBrowse link
Unilateral wrist flexion contracture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:616531 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
Upper-limb joint contracture 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 HPO ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 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 HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		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 HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP HPO MIM:616503 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:609465 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO MIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		JBrowse link
G CAPN3 calpain 3 IAGP HPO ORPHA:267 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 HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 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 HPO ORPHA:610 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 HPO ORPHA:610 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 HPO MIM:618175 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 HPO MIM:618733 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 HPO ORPHA:254528 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO MIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO MIM:121050 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP HPO MIM:620775 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 ORPHA:1826 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 HPO MIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:300055 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 HPO ORPHA:254528 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO MIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G PRG4 proteoglycan 4 IAGP HPO MIM:208250 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:620386 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO MIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 103214
    Phenotypic abnormality 102809
      Abnormality of the musculoskeletal system 15924
        Abnormality of the skeletal system 12013
          Abnormal skeletal morphology 10526
            Abnormal tendon morphology 1222
              Abnormality of the Achilles tendon + 65
              Digital flexor tenosynovitis 15
              Joint contracture + 1163
              Rotator cuff tear 19
              Tendon rupture + 6
              Tendon thickening 2
              Tendon xanthomatosis 14
              Tendonitis + 1
paths to the root