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: autosomal dominant centronuclear myopathy
Accession: DOID:0111217
browse the term
Definition: A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms: exact_synonym: AD-CNM
related_synonym: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF
xref: GARD:12719 ; ICD10CM:G71.228 ; ORDO:169189
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Dnm2
dynamin 2
ISO
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
ClinVar
PMID:2734399 PMID:16199547 PMID:16227997 PMID:17008356 PMID:17825552 PMID:17932957 PMID:18414213 PMID:19130742 PMID:19623537 PMID:19932619 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23374900 PMID:23394783 PMID:24016602 PMID:24033266 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:24728327 PMID:25214167 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26503427 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:27572814 PMID:27698851 PMID:27854218 PMID:28492532 PMID:28676641 PMID:30103202 PMID:32860008 PMID:34008892 PMID:34354735 PMID:34837441 More...
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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Mtm1
myotubularin 1
ISO
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
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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 chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
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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 chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852
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Myod1
myogenic differentiation 1
ISO
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
ClinVar
PMID:31260566
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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Otogl
otogelin-like
ISO
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
ClinVar
PMID:28492532
NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592
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Ppp1r12a
protein phosphatase 1, regulatory subunit 12A
ISO
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
ClinVar
PMID:28492532
NCBI chr 7:43,482,808...43,593,689
Ensembl chr 7:43,482,803...43,593,425
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Ptprq
protein tyrosine phosphatase, receptor type, Q
ISO
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
ClinVar
PMID:28492532
NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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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 PMID:19130742 PMID:20227276 PMID:20529869 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24088041 PMID:24465259 PMID:25262827 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26908122 PMID:27343996 PMID:28492532 PMID:34837441 More...
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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Mtmr14
myotubularin related protein 14
ISO
OMIM
NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
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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 chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852
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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 PMID:25741868 PMID:26467025 PMID:26633542 PMID:28492532 More...
NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
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