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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 NCBI chr 2:77,357,161...77,375,349
Ensembl chr 2:77,357,218...77,375,180 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333 		JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 2:8,858,765...8,872,042 JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G DRG1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:48,126,807...48,153,103
Ensembl chr14:48,126,863...48,157,906 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:51,283,763...51,403,513
Ensembl chr16:51,285,493...51,330,169 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26489027 PMID:28492532 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715 		JBrowse link
G FBN3 fibrillin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chr 2:71,102,033...71,174,475
Ensembl chr 2:71,102,054...71,174,357 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375 		JBrowse link
G FLII FLII actin remodeling protein ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr12:60,475,722...60,487,376
Ensembl chr12:60,475,733...60,487,408 		JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041 		JBrowse link
G HOXA11 homeobox A11 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr18:45,388,523...45,392,190
Ensembl chr18:45,388,375...45,391,953 		JBrowse link
G MID1IP1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:34,763,360...34,766,160
Ensembl chr  X:34,763,355...34,766,076 		JBrowse link
G MYBPC2 myosin binding protein C2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 6:55,281,991...55,310,184
Ensembl chr 6:55,281,803...55,310,295 		JBrowse link
G MYH7B myosin heavy chain 7B ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chr17:38,362,158...38,385,680
Ensembl chr17:38,362,452...38,386,469 		JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 NCBI chr 1:169,370,028...169,596,771
Ensembl chr 1:169,374,311...169,596,412 		JBrowse link
G MYOM2 myomesin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr15:33,529,559...33,606,928
Ensembl chr15:33,510,929...33,606,922 		JBrowse link
G MYOM3 myomesin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:81,803,877...81,859,506
Ensembl chr 6:81,803,877...81,860,046 		JBrowse link
G NR2C1 nuclear receptor subfamily 2 group C member 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:88,231,180...88,278,803
Ensembl chr 5:88,231,274...88,277,997 		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 chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456 		JBrowse link
G PRDM2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:73,135,872...73,240,271
Ensembl chr 6:73,118,177...73,239,423 		JBrowse link
G PRG4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr 9:127,463,875...127,481,770 JBrowse link
G PSD3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr17:12,645,743...13,267,176
Ensembl chr17:12,758,536...13,264,174 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 PMID:29498452 PMID:31230720 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491 		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 chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,686...151,022,148 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:48,729,839...48,812,799
Ensembl chr 6:48,729,419...48,812,796 		JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:24,638,645...24,727,198
Ensembl chr10:24,638,704...24,669,846 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G TMEM214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 3:112,069,932...112,080,715
Ensembl chr 3:112,069,933...112,080,682 		JBrowse link
G TOR1A torsin family 1 member A ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:269,975,919...269,985,478
Ensembl chr 1:269,974,935...269,985,523 		JBrowse link
G VPS8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr13:122,693,681...122,953,625
Ensembl chr13:122,693,760...122,950,420 		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 ClinVar Annotator: match by term: Bethlem myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		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...
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 chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		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
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		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 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,370,457...136,382,559
Ensembl chr15:136,370,530...136,382,553 		JBrowse link
G AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:135,442,440...135,999,162
Ensembl chr15:135,441,906...135,993,311 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,720,648...139,730,737
Ensembl chr15:139,720,612...139,730,736 		JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,485,294...139,531,861 JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,951,191...139,956,575 JBrowse link
G AQP12 aquaporin 12 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,600,775...139,606,712 JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,931,419...137,952,050
Ensembl chr15:137,931,774...137,952,046 		JBrowse link
G ASB18 ankyrin repeat and SOCS box containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,049,744...136,116,084
Ensembl chr15:136,049,740...136,116,017 		JBrowse link
G ATG4B autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,223,903...140,245,590
Ensembl chr15:140,223,904...140,246,321 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,171,134...140,184,126
Ensembl chr15:140,171,143...140,184,121 		JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,557,643...139,568,764
Ensembl chr15:139,557,469...139,568,767 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		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 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 RGD
ClinVar		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934
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 PMID:3352914 PMID:7695699 PMID:8218237 PMID:8817344 PMID:9536084 More... NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,828,222...136,838,058
Ensembl chr15:136,828,217...136,838,053 		JBrowse link
G COPS9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,260,471...139,264,252
Ensembl chr15:139,260,478...139,264,211 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,282,059...140,301,894
Ensembl chr15:140,282,068...140,301,891 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,308,612...140,322,624
Ensembl chr15:140,308,433...140,322,618 		JBrowse link
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,248,071...140,255,803
Ensembl chr15:140,248,079...140,255,805 		JBrowse link
G DUSP28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,536,828...139,539,448
Ensembl chr15:139,537,326...139,539,438 		JBrowse link
G ERFE erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,728,507...137,738,687
Ensembl chr15:137,728,478...137,738,676 		JBrowse link
G ESPNL espin like ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,674,867...137,706,968
Ensembl chr15:137,675,710...137,706,662 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,060,304...140,144,059
Ensembl chr15:140,060,372...140,144,037 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
G GBX2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,029,393...136,032,568
Ensembl chr15:136,029,070...136,032,316 		JBrowse link
G GPC1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,457,866...139,483,704
Ensembl chr15:139,457,669...139,484,670 		JBrowse link
G GPR35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,571,093...139,591,638
Ensembl chr15:139,583,769...139,591,632 		JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,957,703...140,025,336
Ensembl chr15:139,957,715...140,022,302 		JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,785,808...137,787,689
Ensembl chr15:137,785,810...137,787,694 		JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,740,291...137,765,758
Ensembl chr15:137,740,292...137,765,784 		JBrowse link
G ING5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,264,708...140,279,020
Ensembl chr15:140,264,766...140,279,010 		JBrowse link
G IQCA1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:136,153,182...136,322,725
Ensembl chr15:136,152,982...136,321,605 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,709,315...137,721,806
Ensembl chr15:137,709,322...137,721,800 		JBrowse link
G LOC100521825 olfactory receptor 6B2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,040,721...139,041,685 JBrowse link
G LOC100623720 collagen alpha-1(VI) chain susceptibility ISO ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: COL6A1-related condition
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)		 OMIM
ClinVar
RGD		 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 More... RGD:1600934 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
G LOC100625810 olfactory receptor 6B3-like ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,049,403...139,050,341 JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,283,262...137,439,383
Ensembl chr15:137,283,276...137,439,385 		JBrowse link
G MAB21L4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,734,539...139,745,131 JBrowse link
G MLPH melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,173,962...137,219,724
Ensembl chr15:137,174,009...137,219,713 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:138,999,174...139,031,892
Ensembl chr15:138,986,421...139,031,897 		JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,324,087...140,332,226
Ensembl chr15:140,325,135...140,328,276 		JBrowse link
G OTOS otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,268,930...139,272,155
Ensembl chr15:139,268,929...139,277,541 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,887,439...139,917,887
Ensembl chr15:139,890,178...139,917,069 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,881,217...139,887,505
Ensembl chr15:139,881,222...139,887,032 		JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478 		JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,793,419...137,837,854
Ensembl chr15:137,793,422...137,837,070 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,918,006...139,937,168
Ensembl chr15:139,917,257...139,941,251 		JBrowse link
G PRLH prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,230,209...137,232,178
Ensembl chr15:137,230,247...137,230,954 		JBrowse link
G RAB17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,232,781...137,255,884
Ensembl chr15:137,235,936...137,261,057 		JBrowse link
G RAMP1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,490,440...137,535,555
Ensembl chr15:137,490,356...137,535,553 		JBrowse link
G RBM44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,444,905...137,482,073
Ensembl chr15:137,444,855...137,481,025 		JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,542,193...139,551,257
Ensembl chr15:139,542,602...139,551,250 		JBrowse link
G SCLY selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,637,076...137,674,726
Ensembl chr15:137,637,128...137,674,735 		JBrowse link
G SEPTIN2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,023,836...140,058,291
Ensembl chr15:140,024,049...140,058,289 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:139,821,021...139,881,099
Ensembl chr15:139,821,062...139,881,095 		JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,144,334...140,154,361
Ensembl chr15:140,144,336...140,154,366 		JBrowse link
G THAP4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:140,190,198...140,223,454
Ensembl chr15:140,185,682...140,223,477 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289 		JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr15:137,567,250...137,620,586 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:15689448 PMID:16199547 More...
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 chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709 		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 | ClinVar Annotator: match by term: COL12A1-related condition OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:25741905 PMID:27348394 More... NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118 		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 | ClinVar Annotator: match by term: PLOD3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:25741916 More... NCBI chr 3:8,911,787...8,919,525
Ensembl chr 3:8,911,791...8,919,516 		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-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 OMIM
ClinVar		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881 		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:25741916 More... NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727 		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 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974 		JBrowse link
G GAS7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,752,436...54,974,535
Ensembl chr12:54,752,507...54,973,515 		JBrowse link
G GLP2R glucagon like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,680,047...54,747,338
Ensembl chr12:54,680,057...54,738,102 		JBrowse link
G MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340 		JBrowse link
G MYH13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,051,990...55,103,415
Ensembl chr12:55,046,888...55,103,400 		JBrowse link
G MYH2 myosin, heavy chain 2, skeletal muscle, adult ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia OMIM
ClinVar		 PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr12:55,252,974...55,278,820 JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		JBrowse link
G MYH4 myosin, heavy chain 4, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,190,545...55,216,294
Ensembl chr12:55,190,433...55,212,813 		JBrowse link
G MYH8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,135,651...55,166,983
Ensembl chr12:55,134,844...55,167,748 		JBrowse link
G RCVRN recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:54,740,642...54,752,291
Ensembl chr12:54,740,644...54,750,716 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr12:55,406,730...55,424,120
Ensembl chr12:55,405,483...55,424,118 		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 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634 		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: Pterygium universale OMIM
ClinVar		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544 		JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Pterygium universale ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:63,122,856...63,151,009 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18470895 PMID:25741868 More... NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		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 chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208 		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 chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829 		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 chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544 		JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:16826520 PMID:25741868 PMID:28492532 PMID:31354645 NCBI chr 6:63,122,856...63,151,009 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 chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		JBrowse link
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B ISO ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement OMIM
ClinVar		 PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 More... NCBI chr 2:12,268,692...12,279,386
Ensembl chr 2:12,268,695...12,279,559 		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 OMIM
ClinVar		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		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 chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		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 OMIM
ClinVar		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,223,115...74,274,646 		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 chr17:52,743,570...52,907,373
Ensembl chr17:52,743,568...52,906,821 		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 ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 OMIM
ClinVar		 PMID:17701898 PMID:25741868 NCBI chr 2:74,977,266...75,046,898
Ensembl chr 2:74,977,274...75,046,895 		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 ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome OMIM
ClinVar		 PMID:24726473 PMID:25741868 PMID:28492532 NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456 		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: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability OMIM
ClinVar		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		JBrowse link
Multiple Pterygium Syndrome, Lethal Type 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: Lethal multiple pterygium syndrome OMIM
ClinVar		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208 		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 chr15:133,040,310...133,047,839
Ensembl chr15:133,040,340...133,048,829 		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 chr15:133,051,668...133,059,935
Ensembl chr15:133,052,031...133,058,544 		JBrowse link
G LOC110261337 tigger transposable element-derived protein 1-like ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:63,122,856...63,151,009 JBrowse link
restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FST follistatin ISO OMIM:275210 MouseDO NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421 		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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO OMIM:275210 MouseDO NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,773,806...268,788,731 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 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:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951 		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 OMIM NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951 		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:2526018 PMID:2733290 PMID:9500556 PMID:10587585 PMID:10655060 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		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 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 OMIM
ClinVar		 PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr14:50,813,161...50,824,434
Ensembl chr14:50,812,984...50,824,521 		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 chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296 		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:51,231,526...51,749,627
Ensembl chr  X:51,502,732...51,749,625 		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:51,157,102...51,193,993
Ensembl chr  X:51,157,105...51,193,980 		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 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		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 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:46,143,738...46,202,187
Ensembl chr  X:46,144,920...46,218,543 		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 chr 6:29,999,504...30,056,858
Ensembl chr 6:29,998,488...30,056,862 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome OMIM
ClinVar		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		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:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G LMNA lamin A/C ISO 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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		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 chr 3:485,980...532,974
Ensembl chr 3:486,021...530,869 		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:25741868 PMID:28492532 NCBI chr 1:13,715,644...14,201,711 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        muscular disease 2091
          Contracture 140
            Aase Smith Syndrome 0
            Alopecia Contractures Dwarfism Mental Retardation 0
            Axial Mesodermal Dysplasia Spectrum 0
            Bethlem myopathy + 63
            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 1
            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 + 5
            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 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        connective tissue disease 5225
          bone disease 3783
            bone inflammation disease 1273
              arthropathy 1255
                Contracture 140
                  Aase Smith Syndrome 0
                  Alopecia Contractures Dwarfism Mental Retardation 0
                  Axial Mesodermal Dysplasia Spectrum 0
                  Bethlem myopathy + 63
                  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 1
                  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 + 5
                  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