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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 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G ADAMTSL2 ADAMTS like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr11:62,908,679...62,921,878
Ensembl chr11:62,908,679...62,921,807 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:26097527 RGD:11041578 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G DRG1 developmentally regulated GTP binding protein 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr22:31,399,604...31,434,452
Ensembl chr22:31,399,604...31,530,634 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26489027 PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FBN3 fibrillin 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chr19:8,065,402...8,149,592
Ensembl chr19:8,065,402...8,149,592 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G HOXA11 homeobox A11 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G LOC107126281 NUP98-HOXA11 recombination region IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:27,183,029...27,185,218 JBrowse link
G LOC126860282 BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 8:2,105,593...2,106,791 JBrowse link
G MID1IP1 MID1 interacting protein 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:38,801,459...38,806,532
Ensembl chr  X:38,801,440...38,806,537 		JBrowse link
G MYBPC2 myosin binding protein C2 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr19:50,432,892...50,466,321
Ensembl chr19:50,432,892...50,466,321 		JBrowse link
G MYH7B myosin heavy chain 7B IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 PMID:28492532 NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437 		JBrowse link
G MYO9A myosin IXA IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:26752647 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G MYOM2 myomesin 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 8:2,045,046...2,145,456
Ensembl chr 8:2,045,046...2,165,552 		JBrowse link
G MYOM3 myomesin 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:24,056,041...24,112,135
Ensembl chr 1:24,056,035...24,112,135 		JBrowse link
G NR2C1 nuclear receptor subfamily 2 group C member 1 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr12:95,020,229...95,073,618
Ensembl chr12:95,020,229...95,073,628 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:16199547 PMID:27653382 PMID:27843126 PMID:28492532 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PRDM2 PR/SET domain 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:13,700,188...13,825,079
Ensembl chr 1:13,700,188...13,825,079 		JBrowse link
G PRG4 proteoglycan 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G PSD3 pleckstrin and Sec7 domain containing 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 8:18,527,303...19,084,805
Ensembl chr 8:18,527,303...19,084,730 		JBrowse link
G RYR3 ryanodine receptor 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 PMID:29498452 PMID:31230720 NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP 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 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SYT2 synaptotagmin 2 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TMEM214 transmembrane protein 214 IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 2:27,032,965...27,041,694
Ensembl chr 2:27,032,910...27,041,694 		JBrowse link
G TOR1A torsin family 1 member A IAGP ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G VPS8 VPS8 subunit of CORVET complex IAGP ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 3:184,812,166...185,052,614
Ensembl chr 3:184,812,143...185,052,614 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP
ISS
EXP		 ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
OMIM:158810
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
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 chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G LOC126806573 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:238233151-238234350 IAGP ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:237,324,508...237,325,707 JBrowse link
Bethlem Myopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC105760.1 novel transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,048,599...237,056,167
Ensembl chr 2:237,048,599...237,056,167 		JBrowse link
G ACKR3 atypical chemokine receptor 3 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,537,122...236,582,354
Ensembl chr 2:236,567,787...236,582,354 		JBrowse link
G AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:235,494,043...236,131,793
Ensembl chr 2:235,494,043...236,131,793 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,468,632...240,561,064
Ensembl chr 2:240,479,422...240,569,209 		JBrowse link
G ANO7 anoctamin 7 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,188,677...241,240,308
Ensembl chr 2:241,188,509...241,225,976 		JBrowse link
G AQP12A aquaporin 12A IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,691,866...240,698,483
Ensembl chr 2:240,691,866...240,698,483 		JBrowse link
G AQP12B aquaporin 12B IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,676,418...240,683,810
Ensembl chr 2:240,676,418...240,682,906 		JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,426,927...238,452,250
Ensembl chr 2:238,426,742...238,452,250 		JBrowse link
G ASB18 ankyrin repeat and SOCS box containing 18 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,193,459...236,264,406
Ensembl chr 2:236,193,459...236,264,409 		JBrowse link
G ATG4B autophagy related 4B cysteine peptidase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,637,693...241,673,857
Ensembl chr 2:241,637,213...241,673,857 		JBrowse link
G BOK BCL2 family apoptosis regulator BOK IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,551,393...241,574,131
Ensembl chr 2:241,551,424...241,574,131 		JBrowse link
G CAPN10 calpain 10 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility IAGP Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: COL6A1-related condition		 ClinVar
OMIM
RGD		 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 More... RGD:1600934 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility IAGP 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		 ClinVar
RGD		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A2-DT COL6A2 divergent transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:21280092 PMID:23326386 PMID:28492532 NCBI chr21:46,091,896...46,097,645 JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP 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 PMID:3352914 PMID:7695699 PMID:8218237 PMID:8817344 PMID:9536084 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COPS8 COP9 signalosome subunit 8 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,085,889...237,100,474
Ensembl chr 2:237,085,882...237,100,474 		JBrowse link
G COPS8-DT COPS8 divergent transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,910,771...237,085,821
Ensembl chr 2:236,910,797...237,085,838
Ensembl chr 2:236,910,797...237,085,838 		JBrowse link
G COPS9 COP9 signalosome subunit 9 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,126,548...240,136,347
Ensembl chr 2:240,126,563...240,136,807 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944 		JBrowse link
G DUSP28 dual specificity phosphatase 28 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,560,054...240,565,256
Ensembl chr 2:240,560,054...240,565,256 		JBrowse link
G ERFE erythroferrone IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,158,970...238,168,890
Ensembl chr 2:238,158,970...238,168,900 		JBrowse link
G ESPNL espin like IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,100,340...238,133,287
Ensembl chr 2:238,100,340...238,133,287 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,356,285...241,494,841
Ensembl chr 2:241,356,285...241,494,841 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,776,822...241,804,287
Ensembl chr 2:241,776,822...241,804,287 		JBrowse link
G GBX2 gastrulation brain homeobox 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,161,340...236,168,386
Ensembl chr 2:236,165,236...236,168,386 		JBrowse link
G GPC1 glypican 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,435,663...240,468,076
Ensembl chr 2:240,435,663...240,468,076 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HDLBP high density lipoprotein binding protein IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061 		JBrowse link
G HES6 hes family bHLH transcription factor 6 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,238,267...238,240,038
Ensembl chr 2:238,238,267...238,240,662 		JBrowse link
G ILKAP ILK associated serine/threonine phosphatase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,170,402...238,203,695
Ensembl chr 2:238,170,402...238,203,708 		JBrowse link
G ING5 inhibitor of growth family member 5 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,687,020...241,729,478
Ensembl chr 2:241,687,085...241,729,478 		JBrowse link
G IQCA1 IQ motif containing with AAA domain 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:236,306,685...236,507,476
Ensembl chr 2:236,324,147...236,507,535 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KLHL30 kelch like family member 30 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,138,668...238,152,947
Ensembl chr 2:238,138,668...238,152,947 		JBrowse link
G LOC110121230 VISTA enhancer hs1951 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,313,177...237,316,630 JBrowse link
G LOC112840913 Sharpr-MPRA regulatory region 9900 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,968,106...236,968,400 JBrowse link
G LOC121853033 Sharpr-MPRA regulatory region 12001 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:21280092 PMID:23326386 PMID:28492532 NCBI chr21:46,097,935...46,098,229 JBrowse link
G LOC122889010 Sharpr-MPRA regulatory region 6837 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,918,586...236,918,880 JBrowse link
G LOC122889011 Sharpr-MPRA regulatory region 1020 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 2:237,359,226...237,359,520 JBrowse link
G LOC126806571 MED14-independent group 3 enhancer GRCh37_chr2:237488204-237489403 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,579,561...236,580,760 JBrowse link
G LOC126806572 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:238092630-238093829 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,183,987...237,185,186 JBrowse link
G LOC126806573 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:238233151-238234350 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26004199 More... NCBI chr 2:237,324,508...237,325,707 JBrowse link
G LOC129935916 ATAC-STARR-seq lymphoblastoid active region 17363 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532
G LOC129935917 ATAC-STARR-seq lymphoblastoid active region 17364 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532
G LOC130066866 ATAC-STARR-seq lymphoblastoid active region 18597 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:21280092 PMID:23326386 PMID:28492532 NCBI chr21:46,057,309...46,057,368 JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,627,587...237,781,643
Ensembl chr 2:237,627,587...237,813,682 		JBrowse link
G MAB21L4 mab-21 like 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,886,048...240,896,839
Ensembl chr 2:240,886,048...240,896,889 		JBrowse link
G MIR149 microRNA 149 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,456,001...240,456,089
Ensembl chr 2:240,456,001...240,456,089 		JBrowse link
G MLPH melanophilin IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322 		JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,042,586...241,102,287
Ensembl chr 2:241,072,169...241,102,332 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743 		JBrowse link
G NEU4 neuraminidase 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,809,193...241,817,413
Ensembl chr 2:241,809,065...241,817,413 		JBrowse link
G OR6B2 olfactory receptor family 6 subfamily B member 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,029,491...240,030,429
Ensembl chr 2:240,029,491...240,030,429 		JBrowse link
G OR6B3 olfactory receptor family 6 subfamily B member 3 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,044,571...240,053,521
Ensembl chr 2:240,044,571...240,053,521 		JBrowse link
G OTOS otospiralin IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,139,026...240,140,658
Ensembl chr 2:240,139,026...240,144,562 		JBrowse link
G PASK PAS domain containing serine/threonine kinase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,106,099...241,150,347
Ensembl chr 2:241,106,099...241,150,264 		JBrowse link
G PDCD1 programmed cell death 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PER2 period circadian regulator 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,149,573...241,183,652
Ensembl chr 2:241,149,576...241,183,652 		JBrowse link
G PRLH prolactin releasing hormone IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,566,574...237,567,175
Ensembl chr 2:237,566,574...237,567,175 		JBrowse link
G PRR21 proline rich 21 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,041,813...240,042,982 JBrowse link
G RAB17 RAB17, member RAS oncogene family IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,574,326...237,590,734
Ensembl chr 2:237,574,322...237,601,614 		JBrowse link
G RAMP1 receptor activity modifying protein 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,858,880...237,912,106
Ensembl chr 2:237,858,893...237,912,106 		JBrowse link
G RBM44 RNA binding motif protein 44 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,798,779...237,842,805
Ensembl chr 2:237,798,389...237,842,808 		JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,568,484...240,581,372
Ensembl chr 2:240,565,804...240,581,372 		JBrowse link
G SCLY selenocysteine lyase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,061,001...238,099,413
Ensembl chr 2:238,060,924...238,099,413 		JBrowse link
G SEPTIN2 septin 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,315,355...241,354,027
Ensembl chr 2:241,315,100...241,354,027 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:240,997,650...241,095,568
Ensembl chr 2:240,998,618...241,095,568 		JBrowse link
G STK25 serine/threonine kinase 25 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,492,670...241,509,572
Ensembl chr 2:241,492,670...241,509,730 		JBrowse link
G THAP4 THAP domain containing 4 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:241,584,405...241,637,576
Ensembl chr 2:241,584,405...241,637,158 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 2:237,967,014...238,042,782
Ensembl chr 2:237,966,827...238,042,782 		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 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:15689448 PMID:16199547 More... NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		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 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		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 IAGP ClinVar Annotator: match by term: Bethlem myopathy 2
ClinVar Annotator: match by term: Bethlem myopathy 2 | ClinVar Annotator: match by term: COL12A1-related condition		 ClinVar
OMIM		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:25741905 PMID:27348394 More... NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G LOC126859712 MED14-independent group 3 enhancer GRCh37_chr6:75828643-75829842 IAGP ClinVar Annotator: match by term: Bethlem myopathy 2
ClinVar Annotator: match by term: COL12A1-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:75,118,927...75,120,126 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 IAGP
EXP		 ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness
ClinVar Annotator: match by term: PLOD3-related condition
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: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:18834968 PMID:25741868 PMID:25741916 More... NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		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 IAGP
EXP		 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: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Congenital contractural arachnodactyly
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G LOC126807501 BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 IAGP ClinVar Annotator: match by term: Congenital contractural arachnodactyly
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: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Congenital contractural arachnodactyly		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24833718 More... NCBI chr 5:128,345,039...128,346,238 JBrowse link
G LOC126807502 BRD4-independent group 4 enhancer GRCh37_chr5:127772173-127773372 IAGP ClinVar Annotator: match by term: Congenital contractural arachnodactyly ClinVar PMID:28492532 NCBI chr 5:128,436,480...128,437,679 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 IAGP
EXP		 ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25741916 More... NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NALCN-AS1 NALCN antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar PMID:25741868 PMID:28492532 NCBI chr13:100,708,325...101,059,286
Ensembl chr13:100,708,325...101,059,286 		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 IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia		 ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G GAS7 growth arrest specific 7 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,910,606...10,198,606
Ensembl chr17:9,910,606...10,198,606 		JBrowse link
G GLP2R glucagon like peptide 2 receptor IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,825,924...9,892,099
Ensembl chr17:9,822,206...9,892,099 		JBrowse link
G LOC126862500 BRD4-independent group 4 enhancer GRCh37_chr17:10427829-10429028 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20418530 PMID:23388406 More... NCBI chr17:10,524,512...10,525,711 JBrowse link
G LOC126862501 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:10446256-10447455 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20418530 PMID:23388406 More... NCBI chr17:10,542,939...10,544,138 JBrowse link
G MYH1 myosin heavy chain 1 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,492,307...10,518,542
Ensembl chr17:10,492,307...10,518,542 		JBrowse link
G MYH13 myosin heavy chain 13 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,300,865...10,373,006
Ensembl chr17:10,300,865...10,373,130 		JBrowse link
G MYH2 myosin heavy chain 2 IAGP
EXP		 ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
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 chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYH4 myosin heavy chain 4 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,443,263...10,469,559
Ensembl chr17:10,443,290...10,469,559 		JBrowse link
G MYH8 myosin heavy chain 8 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,390,322...10,421,950
Ensembl chr17:10,390,322...10,421,950 		JBrowse link
G MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia		 ClinVar PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,383,144...10,623,886 		JBrowse link
G RCVRN recoverin IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:9,896,320...9,905,271
Ensembl chr17:9,896,320...9,905,271 		JBrowse link
G SCO1 synthesis of cytochrome C oxidase 1 IAGP ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia		 ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		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 IAGP
EXP		 ClinVar Annotator: match by term: Pterygium universale
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: Pterygium universale ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		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 IAGP
EXP		 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 chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		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 IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:15704180 PMID:16199547 PMID:16826520 PMID:16826531 PMID:22167768 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B
ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741870 More... NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome ClinVar PMID:16826520 PMID:25741868 PMID:28492532 PMID:31354645 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		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 IAGP 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 chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 18
ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		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 IAGP ClinVar Annotator: match by term: Hip contracture ClinVar PMID:17561957 PMID:30311386 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004025 ATAC-STARR-seq lymphoblastoid silent region 2461 IAGP ClinVar Annotator: match by term: H syndrome ClinVar PMID:16199547 PMID:19336477 PMID:20595384 PMID:22653152 PMID:23406517 More... NCBI chr10:71,319,056...71,319,505 JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP
EXP		 ClinVar Annotator: match by term: H syndrome
ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
ClinVar Annotator: match by term: Faisalabad histiocytosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		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 IAGP OMIM NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		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 IAGP
EXP		 ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17701898 PMID:25741868 NCBI chr19:3,630,183...3,700,468
Ensembl chr19:3,630,183...3,700,468 		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 IAGP
EXP		 ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24726473 PMID:25741868 PMID:28492532 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		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 IAGP
EXP		 ClinVar Annotator: match by term: Wieacker-Wolff 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:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		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 IAGP
EXP		 ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 More... NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP
EXP		 ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 More... NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP
EXP		 ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 More... NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G LOC122861243 Sharpr-MPRA regulatory region 14969 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532 NCBI chr 2:174,761,881...174,762,175 JBrowse link
G LOC129935149 ATAC-STARR-seq lymphoblastoid active region 16786 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532
G LOC129935150 ATAC-STARR-seq lymphoblastoid silent region 12130 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532
G LOC129935864 ATAC-STARR-seq lymphoblastoid active region 17323 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:28492532
G TIGD1 tigger transposable element derived 1 IAGP ClinVar Annotator: match by term: Lethal multiple pterygium syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:232,543,883...232,550,557
Ensembl chr 2:232,543,883...232,550,557 		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 5:53,480,629...53,487,134
Ensembl chr 5:53,480,626...53,487,134 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy		 ClinVar PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129930252 ATAC-STARR-seq lymphoblastoid active region 835 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar
G LOC129930253 ATAC-STARR-seq lymphoblastoid active region 836 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:3840649 PMID:16297189 PMID:20034068 PMID:20101687 PMID:20635340 More...
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Lethal tight skin contracture syndrome ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...
G SLC27A4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP
EXP		 DNA:duplication:exon:c.591dupT (human)
ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | 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 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		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 IAGP OMIM NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		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 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL
ClinVar Annotator: match by term: Restrictive dermopathy 2
ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2		 ClinVar
OMIM		 PMID:2526018 PMID:2733290 PMID:9500556 PMID:10587585 PMID:10655060 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL
ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2		 ClinVar PMID:18585512 PMID:19638735 PMID:24033266 PMID:25741868 PMID:26084686 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...
stiff skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP
EXP		 ClinVar Annotator: match by term: Stiff skin syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar PMID:17253931 PMID:17663468 PMID:24033266 PMID:24311428 PMID:24941995 More... NCBI chr15:48,520,532...48,520,826 JBrowse link
G LOC126862124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar PMID:9399842 PMID:10486319 PMID:11175294 PMID:11524736 PMID:11748851 More... NCBI chr15:48,472,369...48,473,568 JBrowse link
G LOC130057019 ATAC-STARR-seq lymphoblastoid silent region 6417 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar PMID:16835936 PMID:19839986 PMID:24033266 PMID:25741868 PMID:26272055 More... NCBI chr15:48,644,684...48,644,733 JBrowse link
G LOC130057020 ATAC-STARR-seq lymphoblastoid silent region 6418 IAGP ClinVar Annotator: match by term: Stiff skin syndrome ClinVar NCBI chr15:48,644,834...48,644,963 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 IAGP
EXP		 ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		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 IAGP ClinVar Annotator: match by term: Warburg-cinotti syndrome ClinVar
OMIM		 PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130068372 ATAC-STARR-seq lymphoblastoid silent region 20879 IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,034,854...65,035,003 JBrowse link
G LOC130068373 ATAC-STARR-seq lymphoblastoid silent region 20880 IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,035,064...65,035,293 JBrowse link
G LOC130068374 ATAC-STARR-seq lymphoblastoid active region 29712 IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,035,394...65,035,453 JBrowse link
G ZC3H12B zinc finger CCCH-type containing 12B IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,034,826...65,507,887
Ensembl chr  X:65,034,788...65,507,887 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		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 IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G KMT2A lysine methyltransferase 2A IAGP
EXP		 ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G TTC36-AS1 TTC36 and KMT2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:118,511,918...118,531,094
Ensembl chr11:118,510,273...118,531,094 		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 IAGP ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr16:55,509,072...55,586,666
Ensembl chr16:55,509,072...55,586,666 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP
EXP		 ClinVar Annotator: match by term: Winchester syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		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 IAGP 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
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 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 Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures		 ClinVar
OMIM		 PMID:8589715 PMID:8595406 PMID:9536090 PMID:9536098 PMID:10220866 More... NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G LMNA lamin A/C IAGP 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 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...
G SUN1 Sad1 and UNC84 domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:815,557...874,934
Ensembl chr 7:816,615...896,435 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11641
        muscular disease 2806
          Contracture 183
            Aase Smith Syndrome 0
            Alopecia Contractures Dwarfism Mental Retardation 0
            Axial Mesodermal Dysplasia Spectrum 0
            Bethlem myopathy + 81
            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 + 5
            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 5
            Winchester syndrome 3
            Winter Harding Hyde Syndrome 0
            X-linked Emery-Dreifuss muscular dystrophy 1 6
            congenital contractural arachnodactyly 3
            congenital limbs-face contractures-hypotonia-developmental delay syndrome 2
            congenital myopathy 6 15
            contractures, pterygia, and spondylocarpotarsal fusion syndrome + 9
            hereditary spastic paraplegia 18 1
            histiocytosis-lymphadenopathy plus syndrome 2
            lethal congenital contracture syndrome 3 1
            plantar fascial fibromatosis 0
            restrictive dermopathy + 8
            stiff skin syndrome 5
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11641
        connective tissue disease 7446
          bone disease 5601
            bone inflammation disease 1559
              arthropathy 1533
                Contracture 183
                  Aase Smith Syndrome 0
                  Alopecia Contractures Dwarfism Mental Retardation 0
                  Axial Mesodermal Dysplasia Spectrum 0
                  Bethlem myopathy + 81
                  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 + 5
                  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 5
                  Winchester syndrome 3
                  Winter Harding Hyde Syndrome 0
                  X-linked Emery-Dreifuss muscular dystrophy 1 6
                  congenital contractural arachnodactyly 3
                  congenital limbs-face contractures-hypotonia-developmental delay syndrome 2
                  congenital myopathy 6 15
                  contractures, pterygia, and spondylocarpotarsal fusion syndrome + 9
                  hereditary spastic paraplegia 18 1
                  histiocytosis-lymphadenopathy plus syndrome 2
                  lethal congenital contracture syndrome 3 1
                  plantar fascial fibromatosis 0
                  restrictive dermopathy + 8
                  stiff skin syndrome 5
paths to the root