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:congenital structural myopathy
go back to main search page
Accession:DOID:422 term browser browse the term
Definition:A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. (DO)
Synonyms:exact_synonym: MTM1;   Myotubular Myopathies;   centronuclear myopathy, autosomal dominant;   congenital fiber type disproportion myopathy;   congenital non progressive myopathies;   congenital non-progressive myopathy;   congenital structural myopathies;   myotubular myopathy;   myotubular myopathy 1
 primary_id: MESH:D020914
 alt_id: OMIA:001374
 xref: NCI:C84648
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
congenital structural myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:10508519 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 More... NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO RGD PMID:14516314 RGD:1578366 NCBI chr28:5,569,120...5,578,393
Ensembl chr28:5,569,501...5,601,956 		JBrowse link
G BIN1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17676042 NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:39,857,182...39,861,437
Ensembl chr 6:39,857,304...39,875,418 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy		 ClinVar PMID:2734399 PMID:16199547 PMID:16227997 PMID:17008356 PMID:17825552 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP Centronuclear myopathy, HACD1-related OMIA PMID:977449 PMID:2458692 PMID:3421890 PMID:3662204 PMID:3750734 More... NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090 		JBrowse link
G LDB3 LIM domain binding 3 ISO RGD PMID:11696561 RGD:1581815 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G MTM1 myotubularin 1 IAGP
ISO		 Myotubular myopathy 1
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1		 OMIA
ClinVar		 PMID:9285787 PMID:9305655 PMID:9450905 PMID:10063835 PMID:10790201 More... NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:17008356 PMID:25741868 PMID:28492532 NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr15:23,039,090...23,041,092
Ensembl chr15:23,039,416...23,041,019 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:25741868 PMID:28855170 PMID:32453731 PMID:32600061 PMID:33731536 NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr26:7,584,276...7,599,667
Ensembl chr26:7,584,880...7,599,401 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr15:22,272,291...22,413,441
Ensembl chr15:22,274,259...22,414,359 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy		 ClinVar PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:12192640 PMID:15122708 PMID:15668457 PMID:16365872 PMID:17204937 More... NCBI chr 2:74,134,448...74,149,585 JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
G STIM1 stromal interaction molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy ClinVar PMID:1221488 PMID:10619715 PMID:12163190 PMID:12467750 PMID:17376686 More... NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Myotubular myopathy ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:26701604 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
Actin-Accumulation Myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB10 ATP binding cassette subfamily B member 10 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:9,711,509...9,746,785
Ensembl chr 4:9,711,100...9,745,106 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:1351946 PMID:4952447 PMID:9185179 PMID:9401010 PMID:9536098 More... NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530 		JBrowse link
G AGT angiotensinogen ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,409,039...8,424,776
Ensembl chr 4:8,409,484...8,424,644 		JBrowse link
G C4H1orf131 chromosome 4 C1orf131 homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,189,749...8,204,428
Ensembl chr 4:8,189,741...8,204,433 		JBrowse link
G C4H1orf198 chromosome 4 C1orf198 homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,531,219...8,564,929
Ensembl chr 4:8,531,001...8,564,910 		JBrowse link
G CAPN9 calpain 9 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,613,222...8,653,534
Ensembl chr 4:8,612,682...8,653,467 		JBrowse link
G COG2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532
G DISC1 DISC1 scaffold protein ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:7,524,336...7,825,143
Ensembl chr 4:7,524,397...7,822,558 		JBrowse link
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,053,486...8,110,791
Ensembl chr 4:8,053,837...8,109,325 		JBrowse link
G EXOC8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,133,526...8,138,185
Ensembl chr 4:8,133,670...8,135,853 		JBrowse link
G FAM89A family with sequence similarity 89 member A ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,378,406...8,398,472 JBrowse link
G GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:9,055,753...9,243,741
Ensembl chr 4:8,977,509...9,281,048 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,155,186...8,190,403
Ensembl chr 4:8,155,191...8,190,229 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 NCBI chr30:29,455,261...29,458,757
Ensembl chr30:29,455,566...29,456,945 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532
G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033 		JBrowse link
G PGBD5 piggyBac transposable element derived 5 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,989,542...9,025,836
Ensembl chr 4:8,989,430...9,046,954 		JBrowse link
G RIF1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:52,661,278...52,711,969
Ensembl chr19:52,661,155...52,709,279 		JBrowse link
G SPRTN SprT-like N-terminal domain ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,120,151...8,133,402
Ensembl chr 4:8,120,351...8,133,191 		JBrowse link
G TAF5L TATA-box binding protein associated factor 5 like ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:9,646,516...9,674,318
Ensembl chr 4:9,646,510...9,673,148 		JBrowse link
G TRIM67 tripartite motif containing 67 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,211,013...8,259,907
Ensembl chr 4:8,213,308...8,259,342 		JBrowse link
G TSNAX translin associated factor X ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:7,937,622...7,968,014
Ensembl chr 4:7,937,820...7,967,889 		JBrowse link
G TTC13 tetratricopeptide repeat domain 13 ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:8,424,835...8,503,133
Ensembl chr 4:8,424,882...8,502,600 		JBrowse link
G URB2 URB2 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Actin accumulation myopathy ClinVar PMID:28492532 NCBI chr 4:9,617,824...9,645,763
Ensembl chr 4:9,616,020...9,645,835 		JBrowse link
autosomal dominant centronuclear myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:2734399 PMID:16199547 PMID:16227997 PMID:17008356 PMID:17825552 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF ClinVar PMID:17008356 PMID:19590496 PMID:25741868 PMID:28492532 NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr15:23,039,090...23,041,092
Ensembl chr15:23,039,416...23,041,019 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:31260566 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr15:22,272,291...22,413,441
Ensembl chr15:22,274,259...22,414,359 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:28492532 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 IAGP
ISO		 Centronuclear myopathy 2, BIN1-related
ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE		 OMIA
ClinVar		 PMID:3680647 PMID:16674719 PMID:17017655 PMID:18271825 PMID:19135395 More... NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
centronuclear myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:25741868 PMID:32668698 NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:2734399 PMID:16227997 PMID:17008356 PMID:17825552 PMID:17932957 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G KLHL31 kelch like family member 31 ISO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 MouseDO NCBI chr12:21,153,843...21,201,345
Ensembl chr12:21,156,440...21,160,527 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:9285787 PMID:9305655 PMID:9829274 PMID:10063835 PMID:11793470 More... NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368 		JBrowse link
G PLN phospholamban ISO MouseDO NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:9536098 PMID:16199547 PMID:17226826 PMID:17576681 PMID:18253926 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Centronuclear myopathy ClinVar PMID:22335739 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
centronuclear myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar		 PMID:2734399 PMID:16227997 PMID:17008356 PMID:17825552 PMID:18414213 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO OMIM NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G MYF6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 | ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:11053684 PMID:25741868 PMID:28492532 NCBI chr15:23,039,090...23,041,092
Ensembl chr15:23,039,416...23,041,019 		JBrowse link
centronuclear myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676042 PMID:18414213 More... NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303 		JBrowse link
G CYP27C1 cytochrome P450 family 27 subfamily C member 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,374,295...23,400,054 JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,310,911...23,344,083
Ensembl chr19:23,310,986...23,337,683 		JBrowse link
G GPR17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:22,958,778...22,968,489
Ensembl chr19:22,963,363...22,964,382 		JBrowse link
G IWS1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,081,625...23,122,618
Ensembl chr19:23,082,096...23,122,618 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765 		JBrowse link
G MAP3K2 mitogen-activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,210,106...23,303,426
Ensembl chr19:23,210,714...23,294,586 		JBrowse link
G MYO7B myosin VIIB ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:22,979,078...23,064,815
Ensembl chr19:22,979,074...23,050,834 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22818856 More... NCBI chr 6:39,857,182...39,861,437
Ensembl chr 6:39,857,304...39,875,418 		JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15037581 More... NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 More... NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		JBrowse link
G SPEG striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition OMIM
ClinVar		 PMID:19118250 PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr37:25,947,605...26,005,601
Ensembl chr37:25,947,773...26,005,601 		JBrowse link
centronuclear myopathy 6 with fiber-type disproportion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion OMIM
ClinVar		 PMID:16760198 PMID:25741868 PMID:27816943 PMID:28492532 NCBI chr36:17,353,829...17,515,247
Ensembl chr36:17,341,300...17,514,869 		JBrowse link
centronuclear myopathy X-linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD99L2 CD99 molecule like 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:119,000,342...119,041,859
Ensembl chr  X:119,002,029...119,090,682 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 More... NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G GPR50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:119,266,369...119,271,586
Ensembl chr  X:119,266,480...119,271,586 		JBrowse link
G HMGB3 high mobility group box 3 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:119,152,166...119,159,803
Ensembl chr  X:119,155,786...119,159,814 		JBrowse link
G MAMLD1 mastermind like domain containing 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:118,654,403...118,776,603
Ensembl chr  X:118,655,026...118,775,758 		JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:2352255 PMID:7611280 PMID:8640223 PMID:9199578 PMID:9285787 More... NCBI chr  X:118,820,644...118,917,166
Ensembl chr  X:118,820,494...118,916,368 		JBrowse link
G MTMR1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:118,936,865...118,999,630
Ensembl chr  X:118,937,470...118,999,920 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Severe X-linked myotubular myopathy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:119,429,680...119,502,007
Ensembl chr  X:119,429,931...119,435,756 		JBrowse link
congenital myopathy 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 PMID:30770808 NCBI chr34:14,129,978...14,192,016
Ensembl chr34:14,130,017...14,191,370 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar
OMIM		 PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr  X:121,594,992...121,599,333
Ensembl chr  X:121,594,864...121,599,277 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
congenital myopathy 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:9536098 PMID:10508519 PMID:10528865 PMID:12921789 PMID:15226407 More... NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1423936 PMID:1430197 More... NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 PMID:28855170 PMID:32453731 PMID:32600061 PMID:33731536 NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders ClinVar PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age ClinVar PMID:25326635 PMID:25741868 NCBI chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767 		JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders
ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders		 ClinVar PMID:7224095 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 More... NCBI chr 2:74,134,448...74,149,585 JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion ClinVar PMID:25741868 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion OMIM
ClinVar		 PMID:1221488 PMID:10619715 PMID:12163190 PMID:12467750 PMID:17376686 More... NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296 		JBrowse link
distal myopathy Tateyama type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Distal myopathy, Tateyama type ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr20:9,449,393...9,481,959
Ensembl chr20:9,451,541...9,478,986 		JBrowse link
fatal infantile hypertonic myofibrillar myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED OMIM
ClinVar		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:16483541 PMID:16793013 More... NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
myofibrillar myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:21361913 PMID:21898660 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant ClinVar PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:10905661 PMID:14711882 PMID:14724127 PMID:15477095 PMID:16217025 More... NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant ClinVar PMID:25741868 PMID:26467025 PMID:27642634 PMID:28422763 PMID:28492532 NCBI chr16:19,792,957...19,849,299
Ensembl chr16:19,768,639...19,848,139 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:50,398,866...50,487,303
Ensembl chr20:50,398,864...50,487,241 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:15929027 PMID:22961544 PMID:25741868 PMID:26472074 PMID:26969713 More... NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G KY kyphoscoliosis peptidase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr23:31,325,429...31,371,062
Ensembl chr23:31,325,397...31,370,357 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:4855680 PMID:9536098 PMID:15668942 PMID:17337483 PMID:17576681 More... NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy ClinVar PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:17784878 More... NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:26,234,503...26,257,328
Ensembl chr27:26,234,777...26,257,528 		JBrowse link
myofibrillar myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841 		JBrowse link
G ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,777,665...25,783,892
Ensembl chr37:25,777,713...25,783,887 		JBrowse link
G ATG9A autophagy related 9A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,768,287...25,777,529
Ensembl chr37:25,768,275...25,890,811 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,010,856...25,024,682
Ensembl chr37:25,021,316...25,024,688 		JBrowse link
G CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,528,934...25,535,795
Ensembl chr37:25,529,151...25,530,263 		JBrowse link
G CFAP65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,569,302...25,601,943
Ensembl chr37:25,569,303...25,623,885 		JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642 		JBrowse link
G CNPPD1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,729,196...25,734,724
Ensembl chr37:25,729,180...25,737,627 		JBrowse link
G CRYBA2 crystallin beta A2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,556,308...25,567,952
Ensembl chr37:25,556,303...25,564,284 		JBrowse link
G CTDSP1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,051,839...25,057,506
Ensembl chr37:25,050,267...25,056,113 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,366,475...25,401,978
Ensembl chr37:25,366,472...25,401,509 		JBrowse link
G DES desmin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 OMIM
ClinVar		 PMID:5828910 PMID:7672786 PMID:8114783 PMID:9382102 PMID:9536098 More... NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,826,496...25,834,011
Ensembl chr37:25,827,713...25,833,144 		JBrowse link
G DNPEP aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,898,015...25,917,997
Ensembl chr37:25,863,445...25,918,224 		JBrowse link
G FEV FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,548,578...25,552,092 JBrowse link
G GLB1L galactosidase beta 1 like ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,783,837...25,793,968
Ensembl chr37:25,783,816...25,792,589 		JBrowse link
G IHH Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,616,942...25,622,989 JBrowse link
G LDB3 LIM domain binding 3 ISO OMIM:601419 MouseDO NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
G MIR26B microRNA mir-26b ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,054,488...25,054,543 JBrowse link
G MIR375 microRNA mir-375 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,568,052...25,568,121
Ensembl chr37:25,568,052...25,568,127 		JBrowse link
G NHEJ1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,637,214...25,719,241
Ensembl chr37:25,637,601...25,715,372 		JBrowse link
G PLCD4 phospholipase C delta 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,221,329...25,244,492
Ensembl chr37:25,226,244...25,244,914 		JBrowse link
G PNKD PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:24,948,763...25,008,542
Ensembl chr37:24,948,932...25,005,144 		JBrowse link
G PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,405,794...25,414,745
Ensembl chr37:25,406,190...25,414,961 		JBrowse link
G PTPRN protein tyrosine phosphatase receptor type N ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,835,590...25,854,050
Ensembl chr37:25,836,118...25,869,931 		JBrowse link
G RETREG2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,734,960...25,740,950
Ensembl chr37:25,734,960...25,739,808 		JBrowse link
G RNF25 ring finger protein 25 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,266,945...25,273,269
Ensembl chr37:25,266,947...25,273,131 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar PMID:25741868 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282 		JBrowse link
G SLC23A3 solute carrier family 23 member 3 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,720,935...25,727,589
Ensembl chr37:25,720,809...25,732,831 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs ClinVar NCBI chr 7:69,359,286...69,505,067
Ensembl chr 7:69,358,447...69,621,067 		JBrowse link
G STK16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,793,993...25,797,632
Ensembl chr37:25,794,382...25,797,587 		JBrowse link
G STK36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,273,237...25,297,794
Ensembl chr37:25,273,110...25,340,512 		JBrowse link
G TMBIM1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:24,952,145...24,983,477
Ensembl chr37:24,952,902...24,958,137 		JBrowse link
G TTLL4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,303,818...25,341,315
Ensembl chr37:25,273,110...25,340,512 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
G TUBA4A tubulin alpha 4a ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,799,075...25,803,257
Ensembl chr37:25,796,107...25,802,892 		JBrowse link
G USP37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,090,702...25,186,503
Ensembl chr37:25,090,702...25,186,503 		JBrowse link
G VIL1 villin 1 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,065,887...25,090,238
Ensembl chr37:25,065,180...25,090,705 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,452,875...25,457,437
Ensembl chr37:25,453,905...25,456,654 		JBrowse link
G ZFAND2B zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,757,454...25,760,366
Ensembl chr37:25,757,669...25,760,132 		JBrowse link
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy ClinVar PMID:28492532 NCBI chr37:25,244,783...25,262,585
Ensembl chr37:25,245,643...25,260,296 		JBrowse link
myofibrillar myopathy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SVIL supervillin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 10 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32779703 NCBI chr 2:16,004,160...16,234,434
Ensembl chr 2:16,004,951...16,174,218 		JBrowse link
myofibrillar myopathy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UNC45B unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH ECCENTRIC CORES | ClinVar Annotator: match by term: Myofibrillar myopathy 11 OMIM
ClinVar		 PMID:25741868 PMID:31852522 PMID:33217308 NCBI chr 9:38,189,917...38,218,337
Ensembl chr 9:38,189,917...38,218,025 		JBrowse link
Myofibrillar Myopathy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy OMIM
ClinVar		 PMID:8673105 PMID:09535554 PMID:9536098 PMID:9673982 PMID:11102452 More... NCBI chr26:8,624,147...8,632,166
Ensembl chr26:8,464,176...8,632,232 		JBrowse link
myofibrillar myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Myofibrillar myopathy 2 OMIM
ClinVar		 PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 More... NCBI chr 5:21,181,836...21,185,164
Ensembl chr 5:21,179,936...21,360,132 		JBrowse link
myofibrillar myopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYOT myotilin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339 		JBrowse link
myofibrillar myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 4 OMIM
ClinVar		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509 		JBrowse link
myofibrillar myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1F ATPase H+ transporting V1 subunit F ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr14:7,786,841...7,789,584
Ensembl chr14:7,786,844...7,789,548 		JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: FLNB-Related Disorders ClinVar PMID:16752402 PMID:16801345 PMID:20301736 PMID:22190451 PMID:25741868 More... NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related OMIM
ClinVar		 PMID:2781633 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17412757 More... NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G IRF5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr14:7,724,168...7,734,976
Ensembl chr14:7,724,780...7,742,795 		JBrowse link
G KCP kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr14:7,752,162...7,776,428
Ensembl chr14:7,751,351...7,780,558 		JBrowse link
G TNPO3 transportin 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr14:7,639,276...7,722,453
Ensembl chr14:7,639,558...7,722,351 		JBrowse link
myofibrillar myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related OMIM
ClinVar		 PMID:2159883 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19085932 More... NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:6,602,762...6,646,561 JBrowse link
myofibrillar myopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 ClinVar PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr23:31,249,517...31,303,145
Ensembl chr23:31,249,673...31,303,142 		JBrowse link
G KY kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 OMIM
ClinVar		 PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr23:31,325,429...31,371,062
Ensembl chr23:31,325,397...31,370,357 		JBrowse link
myofibrillar myopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 8 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27745833 PMID:28492532 More... NCBI chr27:26,234,503...26,257,328
Ensembl chr27:26,234,777...26,257,528 		JBrowse link
myofibrillar myopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure		 OMIM
ClinVar		 PMID:1745277 PMID:9536098 PMID:10053013 PMID:10462489 PMID:11310621 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
Myosclerosis, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive OMIM
ClinVar		 PMID:4793163 PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 More... NCBI chr31:39,433,174...39,448,051 JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myosclerosis ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    physical disorder 4894
      congenital structural myopathy 133
        Actin-Accumulation Myopathy 25
        Cap Myopathy + 0
        Myosclerosis, Autosomal Recessive 2
        Myotubular Myopathy with Abnormal Genital Development 0
        Pleoconial Myopathy with Salt Craving 0
        autosomal recessive centronuclear myopathy + 14
        centronuclear myopathy + 33
        centronuclear myopathy 1 3
        centronuclear myopathy 2 10
        centronuclear myopathy 4 1
        centronuclear myopathy X-linked 8
        congenital myopathy 1B 4
        congenital myopathy 4A + 8
        distal myopathy Tateyama type 3
        myofibrillar myopathy + 62
Path 2
Term Annotations click to browse term
  disease 15615
    disease of anatomical entity 15198
      nervous system disease 13267
        peripheral nervous system disease 4053
          neuropathy 3856
            neuromuscular disease 3025
              muscular disease 2135
                muscle tissue disease 1291
                  myopathy 1003
                    congenital myopathy 241
                      congenital structural myopathy 133
                        Actin-Accumulation Myopathy 25
                        Cap Myopathy + 0
                        Myosclerosis, Autosomal Recessive 2
                        Myotubular Myopathy with Abnormal Genital Development 0
                        Pleoconial Myopathy with Salt Craving 0
                        autosomal recessive centronuclear myopathy + 14
                        centronuclear myopathy + 33
                        centronuclear myopathy 1 3
                        centronuclear myopathy 2 10
                        centronuclear myopathy 4 1
                        centronuclear myopathy X-linked 8
                        congenital myopathy 1B 4
                        congenital myopathy 4A + 8
                        distal myopathy Tateyama type 3
                        myofibrillar myopathy + 62
paths to the root