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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:Emery-Dreifuss muscular dystrophy
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Accession:DOID:11726 term browser browse the term
Definition:A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (DO)
Synonyms:exact_synonym: EDMD;   Emery Dreifuss syndrome;   Emery-Dreifuss type muscular dystrophy;   benign scapuloperoneal muscular dystrophy with cardiomyopathy;   benign scapuloperoneal muscular dystrophy with early contractures;   humeroperoneal neuromuscular disease
 narrow_synonym: X-linked Emery-Dreifuss muscular dystrophy;   autosomal dominant Emery Dreifuss muscular dystrophy;   autosomal recessive Emery Dreifuss muscular dystrophy
 primary_id: MESH:D020389
 xref: EFO:0000463;   GARD:6329;   MONDO:0016830;   NCI:C84685;   OMIM:PS310300;   ORDO:261
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700088E04Rik RIKEN cDNA 1700088E04 gene ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,018,855...79,025,451
Ensembl chr15:79,013,549...79,025,453 		JBrowse link
G Abcd1 ATP-binding cassette, sub-family D member 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		JBrowse link
G Ankrd54 ankyrin repeat domain 54 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,937,294...78,947,129
Ensembl chr15:78,937,294...78,947,093 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,937,958...72,954,945
Ensembl chr  X:72,935,048...72,965,476 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,935,371...72,938,034
Ensembl chr  X:72,935,708...72,939,108 		JBrowse link
G Baiap2l2 BAI1-associated protein 2-like 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,142,395...79,169,756
Ensembl chr15:79,142,395...79,169,737 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex, subunit 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,460,234...74,499,307
Ensembl chr  X:74,460,234...74,497,607 		JBrowse link
G C1qtnf6 C1q and tumor necrosis factor related protein 6 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,407,546...78,416,370
Ensembl chr15:78,407,546...78,415,616 		JBrowse link
G Card10 caspase recruitment domain family, member 10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,659,323...78,687,261
Ensembl chr15:78,659,338...78,687,242 		JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,543,437...79,551,861
Ensembl chr15:79,543,400...79,551,861 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555 		JBrowse link
G Cdc42ep1 CDC42 effector protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,726,847...78,735,102
Ensembl chr15:78,726,824...78,735,097 		JBrowse link
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,262,600...78,280,112
Ensembl chr15:78,262,600...78,280,112 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,448,452...74,460,190
Ensembl chr  X:74,448,452...74,460,190 		JBrowse link
G Csf2rb2 colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,166,707...78,189,921
Ensembl chr15:78,166,707...78,189,921 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,302,054...79,339,779
Ensembl chr15:79,302,056...79,339,767 		JBrowse link
G Ctag2l2 CTAG2 like 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,784,533...73,785,794
Ensembl chr  X:73,784,533...73,785,794 		JBrowse link
G Cyth4 cytohesin 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,481,247...78,506,219
Ensembl chr15:78,481,247...78,506,219 		JBrowse link
G Ddx17 DEAD box helicase 17 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,411,897...79,430,976
Ensembl chr15:79,411,937...79,430,942 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G Dmc1 DNA meiotic recombinase 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,445,698...79,489,362
Ensembl chr15:79,445,698...79,489,310 		JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,316,823...73,325,939
Ensembl chr  X:73,316,823...73,325,943 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,682,995...72,687,120
Ensembl chr  X:72,683,025...72,687,120 		JBrowse link
G Eif3l eukaryotic translation initiation factor 3, subunit L ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,959,423...78,978,600
Ensembl chr15:78,959,379...78,978,605 		JBrowse link
G Elfn2 leucine rich repeat and fibronectin type III, extracellular 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,551,531...78,603,056
Ensembl chr15:78,551,531...78,602,971 		JBrowse link
G Emd emerin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy		 CTD
ClinVar
RGD		 PMID:1178008 PMID:1998333 PMID:7294729 PMID:7894480 PMID:8589715 More... RGD:1598907 NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F8a factor 8-associated gene A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,271,912...72,274,401
Ensembl chr  X:72,271,897...72,274,401 		JBrowse link
G Fam227a family with sequence similarity 227, member A ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,493,777...79,543,157
Ensembl chr15:79,496,518...79,543,157 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,427,816...73,436,856
Ensembl chr  X:73,428,325...73,436,878 		JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,356,589...73,363,761
Ensembl chr  X:73,356,639...73,363,755 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16080119 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gab3 growth factor receptor bound protein 2-associated protein 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,032,151...74,128,511
Ensembl chr  X:74,010,449...74,129,064 		JBrowse link
G Galr3 galanin receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,926,085...78,927,758
Ensembl chr15:78,926,085...78,927,758 		JBrowse link
G Gcat glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase) ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,915,074...78,926,731
Ensembl chr15:78,915,074...78,922,553
Ensembl chr15:78,915,074...78,922,553 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468 		JBrowse link
G Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,761,069...78,778,785
Ensembl chr15:78,761,390...78,778,785 		JBrowse link
G Gtpbp1 GTP binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:9536098 PMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 More... NCBI chr15:79,574,202...79,605,680
Ensembl chr15:79,575,046...79,605,680 		JBrowse link
G H1f0 H1.0 linker histone ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,912,412...78,914,704
Ensembl chr15:78,912,650...78,914,704 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:119,222,279...119,222,923
Ensembl chr  X:119,222,445...119,222,792 		JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,480,921...72,502,635
Ensembl chr  X:72,480,921...72,502,650 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G Idh3g isocitrate dehydrogenase 3 (NAD+), gamma ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,822,569...72,830,471
Ensembl chr  X:72,822,569...72,830,503 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,043,660...78,058,281
Ensembl chr15:78,043,663...78,058,307 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Il2rb interleukin 2 receptor, beta chain ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		JBrowse link
G Josd1 Josephin domain containing 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,558,451...79,572,073
Ensembl chr15:79,558,452...79,572,120 		JBrowse link
G Kcnj4 potassium inwardly-rectifying channel, subfamily J, member 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,364,427...79,396,712
Ensembl chr15:79,367,915...79,389,442 		JBrowse link
G Kctd17 potassium channel tetramerisation domain containing 17 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,312,578...78,323,503
Ensembl chr15:78,312,764...78,323,503 		JBrowse link
G Kdelr3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,400,609...79,411,940
Ensembl chr15:79,400,612...79,411,940 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G Lgals1 lectin, galactose binding, soluble 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665 		JBrowse link
G Lgals2 lectin, galactose-binding, soluble 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,735,060...78,739,729
Ensembl chr15:78,735,060...78,739,729 		JBrowse link
G Lmna lamin A ISO
IAGP		 ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302		 ClinVar
CTD
MouseDO
RGD		 PMID:262236 PMID:1839274 PMID:1849984 PMID:2007407 PMID:2280636 More... RGD:1580516 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Maff v-maf musculoaponeurotic fibrosarcoma oncogene family, protein F (avian) ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,230,813...79,243,278
Ensembl chr15:79,230,821...79,243,276 		JBrowse link
G Magea5 MAGE family member A5 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,836,057...153,846,147
Ensembl chr  X:153,836,057...153,846,141 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,640,082...78,657,678
Ensembl chr15:78,640,082...78,657,675 		JBrowse link
G Micall1 microtubule associated monooxygenase, calponin and LIM domain containing -like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,992,750...79,021,100
Ensembl chr15:78,993,098...79,021,100 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,290,918...78,298,213
Ensembl chr15:78,290,616...78,298,213 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,454,048...74,460,190
Ensembl chr  X:74,454,050...74,460,194 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,128,324...78,146,782
Ensembl chr15:78,129,001...78,146,780 		JBrowse link
G Nol12 nucleolar protein 12 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,819,151...78,826,111
Ensembl chr15:78,819,133...78,827,838 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		JBrowse link
G Pdxp pyridoxal (pyridoxine, vitamin B6) phosphatase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,796,342...78,803,717
Ensembl chr15:78,798,119...78,803,717 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575 		JBrowse link
G Pick1 protein interacting with C kinase 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,113,373...79,133,666
Ensembl chr15:79,113,373...79,133,684 		JBrowse link
G Pla2g6 phospholipase A2, group VI ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,372,644...73,388,295
Ensembl chr  X:73,372,672...73,388,295 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,800,564...72,816,116
Ensembl chr  X:72,800,696...72,816,120 		JBrowse link
G Pnck pregnancy upregulated non-ubiquitously expressed CaM kinase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,699,598...72,703,723
Ensembl chr  X:72,699,600...72,703,723 		JBrowse link
G Pnma3 paraneoplastic antigen MA3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,108,393...72,111,797
Ensembl chr  X:72,108,393...72,111,797 		JBrowse link
G Pnma5 paraneoplastic antigen family 5 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,077,587...72,083,315
Ensembl chr  X:72,077,587...72,080,709 		JBrowse link
G Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,438,793...72,442,418
Ensembl chr  X:72,440,045...72,442,342 		JBrowse link
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,025,525...79,035,974
Ensembl chr15:79,025,209...79,035,974 		JBrowse link
G Pvalb parvalbumin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,075,312...78,090,600
Ensembl chr15:78,075,314...78,090,600 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,443,369...78,456,983
Ensembl chr15:78,443,367...78,456,983 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,314,463...73,316,741
Ensembl chr  X:73,314,418...73,316,741 		JBrowse link
G Sh3bp1 SH3-domain binding protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,783,994...78,796,247
Ensembl chr15:78,783,968...78,796,251 		JBrowse link
G Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,412,823...73,416,955
Ensembl chr  X:73,412,823...73,416,955 		JBrowse link
G Slc16a8 solute carrier family 16 (monocarboxylic acid transporters), member 8 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,135,216...79,139,619
Ensembl chr15:79,135,214...79,138,961 		JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,716,739...72,726,108
Ensembl chr  X:72,716,756...72,726,108 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440 		JBrowse link
G Srpk3 serine/arginine-rich protein specific kinase 3 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531 		JBrowse link
G Ssr4 signal sequence receptor, delta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,830,778...72,834,432
Ensembl chr  X:72,830,634...72,834,436 		JBrowse link
G Sstr3 somatostatin receptor 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,421,214...78,433,565
Ensembl chr15:78,421,208...78,428,885 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity IMP
ISO
IEP		 ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
protein:altered localization:liver, Golgi (mouse)		 ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... RGD:10044242, RGD:10044242 NCBI chr 5:139,186,313...139,235,594
Ensembl chr 5:139,186,392...139,235,595 		JBrowse link
G Sun2 Sad1 and UNC84 domain containing 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:16783378 PMID:17576681 PMID:18570303 More... NCBI chr15:79,608,269...79,626,757
Ensembl chr15:79,608,271...79,626,737 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 IMP
ISO
IAGP		 DNA:deletion:cds:
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302		 ClinVar
CTD
MouseDO
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:19008300 RGD:13209003 NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
G Syne2 spectrin repeat containing, nuclear envelope 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy		 CTD
ClinVar		 PMID:26467025 PMID:28492532 NCBI chr12:75,865,092...76,157,702
Ensembl chr12:75,864,908...76,157,700 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		JBrowse link
G Tmem184b transmembrane protein 184b ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,244,884...79,287,503
Ensembl chr15:79,244,884...79,287,769 		JBrowse link
G Tmem43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G Tmprss6 transmembrane serine protease 6 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,323,867...78,352,848
Ensembl chr15:78,323,867...78,352,834 		JBrowse link
G Tomm22 translocase of outer mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:79,555,069...79,557,063
Ensembl chr15:79,555,062...79,557,601 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,477,311...72,478,949
Ensembl chr  X:72,477,311...72,478,950 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069 		JBrowse link
G Tst thiosulfate sulfurtransferase, mitochondrial ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chr15:78,283,756...78,290,065
Ensembl chr15:78,283,756...78,290,107 		JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,409,324...73,412,154
Ensembl chr  X:73,409,324...73,416,824 		JBrowse link
G Vbp1 von Hippel-Lindau binding protein 1 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,030,860...72,075,149
Ensembl chr  X:72,030,945...72,075,149 		JBrowse link
G Zfp92 zinc finger protein 92 ISO ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,454,555...72,473,980
Ensembl chr  X:72,454,702...72,471,991 		JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 IAGP OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 MouseDO NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A ISO
IMP		 DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)		 ClinVar
OMIM
RGD		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2338570 PMID:2526018 More... RGD:12791020, RGD:2306094, RGD:12791273, RGD:11062274 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 (alpha) ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne2 spectrin repeat containing, nuclear envelope 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17761684 PMID:18414213 More... NCBI chr12:75,865,092...76,157,702
Ensembl chr12:75,864,908...76,157,700 		JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant OMIM
ClinVar		 PMID:18230648 PMID:18313022 PMID:18414213 PMID:20435227 PMID:21214875 More... NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant ClinVar NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant | ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS | ClinVar Annotator: match by term: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
DNA:missense mutation: :p.R1845W (23014C>T) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... RGD:12792959 NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM
ClinVar		 PMID:2007407 PMID:2733290 PMID:4684700 PMID:9500556 PMID:10580070 More... NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
scapuloperoneal myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 IAGP OMIM:181430 | OMIM:300695 MouseDO NCBI chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy ClinVar NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: SCAPULOPERONEAL MUSCULAR DYSTROPHY | ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE | ClinVar Annotator: match by term: Scapuloperoneal muscular dystrophy | ClinVar Annotator: match by term: Scapuloperoneal myopathy | ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		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:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G Lmna lamin A 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 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		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 5:139,186,313...139,235,594
Ensembl chr 5:139,186,392...139,235,595 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 6 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: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy OMIM
ClinVar		 PMID:2663542 PMID:7722535 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
X-Linked Scapuloperoneal Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18179888 PMID:18179901 PMID:19181672 PMID:19716112 PMID:21629301 More... NCBI chr  X:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      musculoskeletal system disease 7968
        muscular disease 2173
          muscle tissue disease 1318
            myopathy 1033
              muscular dystrophy 602
                Emery-Dreifuss muscular dystrophy 126
                  Autosomal Emery-Dreifuss Muscular Dystrophy + 2
                  X-linked Emery-Dreifuss muscular dystrophy 1 4
                  X-linked Emery-Dreifuss muscular dystrophy 6 3
                  autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
                  autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
                  autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
                  scapuloperoneal myopathy + 3
Path 2
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      nervous system disease 13530
        peripheral nervous system disease 4129
          neuropathy 3927
            neuromuscular disease 3084
              muscular disease 2173
                muscle tissue disease 1318
                  myopathy 1033
                    muscular dystrophy 602
                      Emery-Dreifuss muscular dystrophy 126
                        Autosomal Emery-Dreifuss Muscular Dystrophy + 2
                        X-linked Emery-Dreifuss muscular dystrophy 1 4
                        X-linked Emery-Dreifuss muscular dystrophy 6 3
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
                        autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
                        autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
                        scapuloperoneal myopathy + 3
paths to the root