Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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.

GViewer not supported for the selected species.

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 Abcd1 ATP binding cassette subfamily 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 chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990 		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 chrNW_004936492:3,280,318...3,291,197
Ensembl chrNW_004936492:3,280,367...3,291,336 		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 chrNW_004936809:791,275...807,448
Ensembl chrNW_004936809:791,274...807,450 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 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 chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G Atp6ap1 ATPase H+ transporting 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 chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283 		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 chrNW_004936809:789,337...790,986
Ensembl chrNW_004936809:788,286...790,954 		JBrowse link
G Baiap2l2 BAR/IMD domain containing adaptor 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 chrNW_004936492:3,061,745...3,090,151
Ensembl chrNW_004936492:3,061,789...3,089,799 		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 chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		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 chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		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 chrNW_004936927:341,114...380,817
Ensembl chrNW_004936927:341,253...376,700 		JBrowse link
G C1qtnf6 C1q and TNF related 6 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,759,056...3,765,345
Ensembl chrNW_004936492:3,757,939...3,765,381 		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 chrNW_004936492:3,520,129...3,545,178
Ensembl chrNW_004936492:3,522,533...3,545,279 		JBrowse link
G Cby1 chibby 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 chrNW_004936492:2,677,502...2,681,845
Ensembl chrNW_004936492:2,677,502...2,681,511 		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 chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		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 chrNW_004936492:3,489,185...3,493,231 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 chrNW_004936492:3,887,052...3,904,337 JBrowse link
G Clic2 chloride intracellular channel 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 chrNW_004936927:514,989...543,691
Ensembl chrNW_004936927:514,899...543,693 		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 chrNW_004936927:317,417...341,016
Ensembl chrNW_004936927:320,833...341,021 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,929,589...3,974,070 JBrowse link
G CUNH22orf23 chromosome unknown C22orf23 homolog ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,196,828...3,202,593 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 chrNW_004936492:3,678,299...3,703,787
Ensembl chrNW_004936492:3,679,716...3,697,771 		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 chrNW_004936492:2,806,630...2,826,071
Ensembl chrNW_004936492:2,806,516...2,827,181 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 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 chrNW_004936927:134,770...144,057 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 chrNW_004936492:2,754,694...2,788,249
Ensembl chrNW_004936492:2,753,289...2,788,102 		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 chrNW_004936809:1,151,312...1,159,017
Ensembl chrNW_004936809:1,151,202...1,159,029 		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 chrNW_004936809:535,434...538,219
Ensembl chrNW_004936809:535,434...539,319 		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 chrNW_004936492:3,244,497...3,275,342 JBrowse link
G Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,624,400...3,641,118
Ensembl chrNW_004936492:3,634,974...3,637,436 		JBrowse link
G Emd emerin ISO 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 ClinVar PMID:1178008 PMID:1998333 PMID:7294729 PMID:7894480 PMID:8589715 More... NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		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 chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G F8a1 coagulation factor VIII associated 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 chrNW_004936927:234,162...236,881 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 chrNW_004936492:2,690,575...2,731,287 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 chrNW_004936809:1,248,865...1,258,894
Ensembl chrNW_004936809:1,249,823...1,258,860 		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 chrNW_004936809:1,195,479...1,202,126 JBrowse link
G Flna filamin A 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 chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		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 chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase 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 chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Gab3 GRB2 associated binding 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 chrNW_004936927:68,506...93,899
Ensembl chrNW_004936927:70,923...124,164 		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 chrNW_004936492:3,301,409...3,303,512 JBrowse link
G Gcat glycine C-acetyltransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,307,015...3,313,441
Ensembl chrNW_004936492:3,304,031...3,313,475 		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 chrNW_004936809:1,188,793...1,194,816
Ensembl chrNW_004936809:1,188,628...1,194,863 		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 chrNW_004936492:3,445,271...3,464,960
Ensembl chrNW_004936492:3,445,094...3,464,809 		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 chrNW_004936492:2,627,881...2,648,295
Ensembl chrNW_004936492:2,629,352...2,651,042 		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 chrNW_004936809:321,906...350,105
Ensembl chrNW_004936809:321,497...350,110 		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 chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit 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 chrNW_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214 		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 chrNW_004936492:4,077,957...4,089,898
Ensembl chrNW_004936492:4,077,615...4,090,197 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit 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 chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,795,940...3,805,822
Ensembl chrNW_004936492:3,795,940...3,805,774 		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 chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		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 chrNW_004936492:2,656,222...2,669,538
Ensembl chrNW_004936492:2,656,235...2,669,540 		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 chrNW_004936492:2,865,803...2,867,657
Ensembl chrNW_004936492:2,865,879...2,867,201 		JBrowse link
G Kctd17 potassium channel tetramerization 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 chrNW_004936492:3,850,172...3,859,786
Ensembl chrNW_004936492:3,850,848...3,859,768 		JBrowse link
G Kdelr3 KDEL 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 chrNW_004936492:2,826,746...2,833,548
Ensembl chrNW_004936492:2,825,646...2,832,637 		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 chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		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 chrNW_004936809:1,229,933...1,232,448 JBrowse link
G Lgals1 galectin 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,407,704...3,411,197
Ensembl chrNW_004936492:3,407,049...3,411,222 		JBrowse link
G Lgals2 galectin 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,463,195...3,500,431
Ensembl chrNW_004936492:3,483,572...3,488,730 		JBrowse link
G Lmna lamin A/C ISO 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 ClinVar PMID:262236 PMID:1839274 PMID:1849984 PMID:2007407 PMID:2280636 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101967165 histone H2A-Bbd type 2/3 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 chrNW_004936927:232,353...232,857 JBrowse link
G LOC101970440 histone H1.0 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,314,991...3,315,974
Ensembl chrNW_004936492:3,315,048...3,315,632 		JBrowse link
G Maff MAF bZIP transcription factor F ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:2,983,322...2,988,900
Ensembl chrNW_004936492:2,986,813...2,987,836 		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 chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		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 chrNW_004936492:3,547,345...3,561,940
Ensembl chrNW_004936492:3,547,282...3,562,022 		JBrowse link
G Micall1 MICAL like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,200,754...3,227,983
Ensembl chrNW_004936492:3,204,969...3,226,559 		JBrowse link
G Mpp1 MAGUK p55 scaffold 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 chrNW_004936927:147,448...170,435
Ensembl chrNW_004936927:147,282...170,575 		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 chrNW_004936492:3,873,295...3,876,895
Ensembl chrNW_004936492:3,873,176...3,876,706 		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 chrNW_004936927:334,017...341,016
Ensembl chrNW_004936927:334,894...341,072 		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 chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		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 chrNW_004936492:4,001,711...4,015,253
Ensembl chrNW_004936492:4,001,898...4,010,456 		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 chrNW_004936492:3,397,676...3,404,116
Ensembl chrNW_004936492:3,397,121...3,404,212 		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 chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912 		JBrowse link
G Pdxp pyridoxal phosphatase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,420,590...3,426,764
Ensembl chrNW_004936492:3,421,516...3,426,715 		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 chrNW_004936809:681,412...707,932
Ensembl chrNW_004936809:679,938...707,938 		JBrowse link
G Pick1 protein interacting with PRKCA 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,098,196...3,115,921
Ensembl chrNW_004936492:3,097,629...3,116,526 		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 chrNW_004936492:3,011,752...3,060,962
Ensembl chrNW_004936492:3,011,772...3,060,986 		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 chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728 		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 chrNW_004936809:645,569...659,850
Ensembl chrNW_004936809:644,049...659,859 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous 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 chrNW_004936809:553,438...557,385
Ensembl chrNW_004936809:553,431...557,427 		JBrowse link
G Pnma3 PNMA 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 chrNW_004936714:90,133...93,805
Ensembl chrNW_004936714:92,269...93,660 		JBrowse link
G Pnma5 PNMA family member 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 chrNW_004936714:155,618...156,955
Ensembl chrNW_004936714:155,618...157,563 		JBrowse link
G Pnma6a PNMA family member 6A 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 chrNW_004936714:76,508...79,485
Ensembl chrNW_004936714:77,885...79,336 		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 chrNW_004936809:266,367...269,248 JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,186,930...3,196,738
Ensembl chrNW_004936492:3,186,760...3,196,796 		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 chrNW_004936492:4,048,459...4,064,024
Ensembl chrNW_004936492:4,048,470...4,064,019 		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 chrNW_004936927:492,114...498,030
Ensembl chrNW_004936927:492,099...498,294 		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 chrNW_004936492:3,726,375...3,737,961
Ensembl chrNW_004936492:3,726,313...3,736,905 		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 chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G Rpl10 ribosomal protein L10 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 chrNW_004936809:1,146,994...1,149,573
Ensembl chrNW_004936809:1,146,809...1,149,618 		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 chrNW_004936492:3,430,099...3,440,432
Ensembl chrNW_004936492:3,429,949...3,440,334 		JBrowse link
G Slc10a3 solute carrier family 10 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 chrNW_004936809:1,241,980...1,245,986
Ensembl chrNW_004936809:1,241,986...1,246,266 		JBrowse link
G Slc16a8 solute carrier family 16 member 8 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,090,624...3,096,462
Ensembl chrNW_004936492:3,092,113...3,096,269 		JBrowse link
G Slc6a8 solute carrier family 6 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 chrNW_004936809:571,234...578,298 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 chrNW_004936927:171,867...186,718 JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,173,770...3,183,423
Ensembl chrNW_004936492:3,173,741...3,185,024 		JBrowse link
G Srpk3 SRSF protein 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 chrNW_004936809:661,264...666,198
Ensembl chrNW_004936809:661,264...666,188 		JBrowse link
G Ssr4 signal sequence receptor subunit 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 chrNW_004936809:675,178...679,245
Ensembl chrNW_004936809:675,049...679,707 		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 chrNW_004936492:3,745,455...3,752,330
Ensembl chrNW_004936492:3,748,135...3,751,089 		JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO 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 RGD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22541428 PMID:25741868 More... RGD:10044242 NCBI chrNW_004936754:1,067,900...1,111,568
Ensembl chrNW_004936754:1,067,854...1,110,305 		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 chrNW_004936492:2,609,444...2,629,050
Ensembl chrNW_004936492:2,609,406...2,626,564 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:26467025 PMID:28492532 NCBI chrNW_004936495:7,658,250...7,949,417 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 chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097 		JBrowse link
G Tex28 testis expressed 28 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 chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120 		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 chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994 		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 chrNW_004936492:2,962,873...2,984,202
Ensembl chrNW_004936492:2,963,054...2,984,202 		JBrowse link
G Tmem43 transmembrane protein 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		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... NCBI chrNW_004936958:64,713...113,627 JBrowse link
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 chrNW_004936492:3,819,347...3,848,372
Ensembl chrNW_004936492:3,819,309...3,848,075 		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 chrNW_004936492:2,670,734...2,672,463
Ensembl chrNW_004936492:2,671,076...2,672,446 		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 chrNW_004936809:317,655...319,293
Ensembl chrNW_004936809:318,548...319,258 		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 chrNW_004936492:3,337,791...3,390,420 JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy ClinVar PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 NCBI chrNW_004936492:3,880,545...3,886,881
Ensembl chrNW_004936492:3,880,500...3,886,950 		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 chrNW_004936809:1,238,459...1,241,319
Ensembl chrNW_004936809:1,238,462...1,241,318 		JBrowse link
G Vbp1 VHL 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 chrNW_004936927:433,598...468,191
Ensembl chrNW_004936927:433,551...469,331 		JBrowse link
G Zfp92 ZFP92 zinc finger 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 chrNW_004936809:294,114...309,368
Ensembl chrNW_004936809:301,482...356,094 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 MouseDO NCBI chrNW_004936474:22,035,059...22,077,846
Ensembl chrNW_004936474:22,034,801...22,077,986 		JBrowse link
G Znf185 zinc finger protein 185 with LIM domain 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 chrNW_004936714:167,552...218,785
Ensembl chrNW_004936714:152,319...218,921 		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/C ISO 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		 OMIM
ClinVar		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2338570 PMID:2526018 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		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 chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		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 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 chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 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 chrNW_004936489:4,903,176...5,177,987 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 protein 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 chrNW_004936495:7,658,250...7,949,417 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:21391237 More... NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		JBrowse link
autosomal dominant hyaline body myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972165 myosin-7 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
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT		 OMIM
ClinVar		 PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		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/C ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM
ClinVar		 PMID:2007407 PMID:2526018 PMID:2733290 PMID:4684700 PMID:9500556 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		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 ISO OMIM:181430 | OMIM:300695 MouseDO NCBI chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G LOC101972165 myosin-7 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 chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		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 chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:262236 PMID:2733290 PMID:9536098 PMID:11102973 PMID:11503164 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		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 chrNW_004936754:1,067,900...1,111,568
Ensembl chrNW_004936754:1,067,854...1,110,305 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936489:4,903,176...5,177,987 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 chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		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 chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy ClinVar PMID:25741868 NCBI chrNW_004936509:7,733,426...7,999,503 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 OMIM
ClinVar		 PMID:18179888 PMID:18179901 PMID:19181672 PMID:19716112 PMID:21629301 More... NCBI chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        muscular disease 2043
          muscle tissue disease 1226
            myopathy 950
              muscular dystrophy 574
                Emery-Dreifuss muscular dystrophy 122
                  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 + 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              muscular disease 2043
                muscle tissue disease 1226
                  myopathy 950
                    muscular dystrophy 574
                      Emery-Dreifuss muscular dystrophy 122
                        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 + 2
paths to the root