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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Contracture
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Accession:DOID:9006836 term browser browse the term
Definition:Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
Synonyms:exact_synonym: Contractures
 primary_id: MESH:D003286
 xref: EFO:0003899


show annotations for term's descendants           Sort by:
Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Drg1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:78,103,876...78,119,976
Ensembl chr14:78,103,876...78,119,953 		JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26489027 PMID:28492532 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774 		JBrowse link
G Mybpc2 myosin binding protein C2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 1:94,994,121...95,017,584
Ensembl chr 1:94,994,104...95,017,584 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 PMID:28492532 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084 		JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
G Myom2 myomesin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:74,520,148...74,592,658
Ensembl chr16:74,520,157...74,592,772 		JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274 		JBrowse link
G Nr2c1 nuclear receptor subfamily 2, group C, member 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:28,715,347...28,768,624
Ensembl chr 7:28,715,562...28,767,160 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:16199547 PMID:27653382 PMID:27843126 PMID:28492532 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:155,421,066...155,531,884
Ensembl chr 5:155,422,134...155,531,825 		JBrowse link
G Prg4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28492532 PMID:29498452 PMID:31230720 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) RGD PMID:21155763 RGD:11072411 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444 		JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr11:79,402,236...79,634,234
Ensembl chr11:79,402,239...79,634,133 		JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
OMIM:158810		 CTD
ClinVar
MouseDO		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098 PMID:12840783 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Bethlem Myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,039,720...90,475,196
Ensembl chr 9:90,039,605...90,470,958 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Asb18 ankyrin repeat and SOCS box-containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,531,350...90,595,953
Ensembl chr 9:90,531,596...90,595,848 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A		 ClinVar
OMIM
RGD		 PMID:963533 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 More... RGD:1600934 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
RGD		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A		 ClinVar PMID:3352914 PMID:3564626 PMID:7695699 PMID:8218237 PMID:8817344 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,382,456...94,387,990 JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,509,633...90,512,212
Ensembl chr 9:90,509,633...90,512,212 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,001,849...92,003,562
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,326,549...94,343,392
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Iqca1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,626,735...90,742,563
Ensembl chr 9:90,626,744...90,742,618 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,845,975...91,881,145
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
Bethlem Myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
Bethlem Myopathy 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27348394 PMID:28492532 More... NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:28492532 More... NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960 		JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
congenital limbs-face contractures-hypotonia-developmental delay syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM
ClinVar		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 More... NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
congenital myopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276 		JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951 		JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: CHRNG-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
Hip Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hip contracture ClinVar PMID:17561957 PMID:30311386 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfatc2 nuclear factor of activated T-cells 2 ISO OMIM NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3		 OMIM
CTD
ClinVar		 PMID:17701898 PMID:25741868 NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988 		JBrowse link
Marden-Walker Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome		 OMIM
CTD
ClinVar		 PMID:24726473 PMID:25741868 PMID:28492532 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpg alkaline phosphatase, germ cell ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836 		JBrowse link
G Alpi alkaline phosphatase, intestinal ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877 		JBrowse link
G Alpp alkaline phosphatase, placental ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616 		JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675 		JBrowse link
G Prss56 serine protease 56 ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fst follistatin ISS OMIM:275210 MouseDO NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO DNA:duplication:exon:c.591dupT (human)
ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... RGD:10043097 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
restrictive dermopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Restrictive dermopathy 1 | ClinVar Annotator: match by term: ZMPSTE24-related disorder OMIM
ClinVar		 PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:16297189 More... NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
restrictive dermopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 OMIM
ClinVar		 PMID:2733290 PMID:9500556 PMID:10587585 PMID:10655060 PMID:10739751 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
stiff skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Stiff skin syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Van den Ende-Gupta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348 		JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-cinotti syndrome OMIM
ClinVar		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056 		JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 More... NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 OMIM
ClinVar		 PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:28492532 NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        muscular disease 2219
          Contracture 141
            Aase Smith Syndrome 0
            Alopecia Contractures Dwarfism Mental Retardation 0
            Axial Mesodermal Dysplasia Spectrum 0
            Bethlem myopathy + 62
            Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
            Bowen Syndrome 0
            Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
            Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
            Congenital Ectodermal Dysplasia with Hearing Loss 0
            Davenport Donlan Syndrome 0
            Dupuytren Contracture + 0
            Dystonia with Ringbinden 0
            Erosive Arthropathy 0
            Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
            Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
            Hip Contracture 1
            Iida Kannari Syndrome 0
            JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA 1
            Macleod Fraser syndrome 0
            Marden-Walker Syndrome 1
            Mental Retardation Mietens Weber Type 0
            Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
            Miles-Carpenter syndrome + 2
            Rozin Hertz Goodman Syndrome 0
            Spondylospinal Thoracic Dysostosis 0
            Van den Ende-Gupta syndrome 1
            Volkmann contracture 0
            Warburg-Cinotti Syndrome 1
            Wiedemann-Steiner syndrome 4
            Winchester syndrome 3
            Winter Harding Hyde Syndrome 0
            X-linked Emery-Dreifuss muscular dystrophy 1 4
            congenital contractural arachnodactyly 1
            congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
            congenital myopathy 6 12
            contractures, pterygia, and spondylocarpotarsal fusion syndrome + 10
            hereditary spastic paraplegia 18 1
            histiocytosis-lymphadenopathy plus syndrome 1
            lethal congenital contracture syndrome 3 1
            plantar fascial fibromatosis 0
            restrictive dermopathy + 4
            stiff skin syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone inflammation disease 1558
              arthropathy 1537
                Contracture 141
                  Aase Smith Syndrome 0
                  Alopecia Contractures Dwarfism Mental Retardation 0
                  Axial Mesodermal Dysplasia Spectrum 0
                  Bethlem myopathy + 62
                  Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
                  Bowen Syndrome 0
                  Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
                  Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                  Congenital Ectodermal Dysplasia with Hearing Loss 0
                  Davenport Donlan Syndrome 0
                  Dupuytren Contracture + 0
                  Dystonia with Ringbinden 0
                  Erosive Arthropathy 0
                  Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                  Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
                  Hip Contracture 1
                  Iida Kannari Syndrome 0
                  JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA 1
                  Macleod Fraser syndrome 0
                  Marden-Walker Syndrome 1
                  Mental Retardation Mietens Weber Type 0
                  Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
                  Miles-Carpenter syndrome + 2
                  Rozin Hertz Goodman Syndrome 0
                  Spondylospinal Thoracic Dysostosis 0
                  Van den Ende-Gupta syndrome 1
                  Volkmann contracture 0
                  Warburg-Cinotti Syndrome 1
                  Wiedemann-Steiner syndrome 4
                  Winchester syndrome 3
                  Winter Harding Hyde Syndrome 0
                  X-linked Emery-Dreifuss muscular dystrophy 1 4
                  congenital contractural arachnodactyly 1
                  congenital limbs-face contractures-hypotonia-developmental delay syndrome 1
                  congenital myopathy 6 12
                  contractures, pterygia, and spondylocarpotarsal fusion syndrome + 10
                  hereditary spastic paraplegia 18 1
                  histiocytosis-lymphadenopathy plus syndrome 1
                  lethal congenital contracture syndrome 3 1
                  plantar fascial fibromatosis 0
                  restrictive dermopathy + 4
                  stiff skin syndrome 1
paths to the root