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autosomal recessive centronuclear myopathy - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal recessive centronuclear myopathy
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Accession:DOID:0111216 term browser browse the term
Definition:A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: AR-CNM;   centronuclear myopathy, recessive;   myotubular myopathy, autosomal recessive
 xref: GARD:12718;   MESH:C562934;   MONDO:0015705;   OMIA:001660;   ORDO:169186

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autosomal recessive centronuclear myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:24,282,840...24,341,461
Ensembl chr18:24,009,653...24,067,263 		JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:84,314,387...84,371,816
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		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: BIN1-related condition | ClinVar Annotator: match by term: Myopathy, centronuclear, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676042 PMID:18414213 More... NCBI chr18:24,282,840...24,341,461
Ensembl chr18:24,009,653...24,067,263 		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 chr18:24,157,831...24,188,543
Ensembl chr18:23,883,580...23,914,329 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 PMID:28492532 PMID:35660364 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,850,460...23,857,381
Ensembl chr18:23,577,242...23,582,966 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,969,352...24,011,560
Ensembl chr18:23,695,425...23,736,172 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137 		JBrowse link
G Map3k2 mitogen activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:24,081,444...24,153,940
Ensembl chr18:23,807,218...23,871,433 		JBrowse link
G Myo7b myosin VIIb ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809 		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 chr18:24,038,596...24,049,061
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 NCBI chr 9:84,314,387...84,371,816
Ensembl chr 9:76,865,754...76,923,144 		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, polypeptide 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15037581 More... NCBI chr 6:21,093,927...21,103,091
Ensembl chr 6:15,342,344...15,350,917 		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 chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658 		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 | ClinVar Annotator: match by term: SPEG-related congenital myopathy OMIM
ClinVar		 PMID:19118250 PMID:25087613 PMID:25741868 PMID:28492532 PMID:29614691 More... NCBI chr 9:84,314,387...84,371,816
Ensembl chr 9:76,865,754...76,923,144 		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: MAP3K20-related condition | ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion OMIM
ClinVar		 PMID:16760198 PMID:25741868 PMID:27816943 PMID:28492532 PMID:39825153 NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:57,130,551...57,289,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      congenital structural myopathy 144
        autosomal recessive centronuclear myopathy 14
          centronuclear myopathy 2 10
          centronuclear myopathy 5 3
          centronuclear myopathy 6 with fiber-type disproportion 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    congenital myopathy 252
                      congenital structural myopathy 144
                        centronuclear myopathy 42
                          autosomal recessive centronuclear myopathy 14
                            centronuclear myopathy 2 10
                            centronuclear myopathy 5 3
                            centronuclear myopathy 6 with fiber-type disproportion 1
paths to the root