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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:centronuclear myopathy 2
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Accession:DOID:0111220 term browser browse the term
Definition:An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. (DO)
Synonyms:exact_synonym: CNM2;   autosomal recessive centronuclear myopathy 2
 primary_id: OMIM:255200

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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 chrNW_004955459:3,376,149...3,423,157
Ensembl chrNW_004955459:3,399,611...3,422,621 		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 chrNW_004955459:3,210,936...3,238,401
Ensembl chrNW_004955459:3,210,479...3,242,576 		JBrowse link
G Gpr17 G protein-coupled receptor 17 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chrNW_004955459:2,890,266...2,903,053
Ensembl chrNW_004955459:2,890,266...2,903,053 		JBrowse link
G Iws1 interacts with SUPT6H, CTD assembly factor 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chrNW_004955459:3,021,320...3,063,363
Ensembl chrNW_004955459:3,021,764...3,063,128 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chrNW_004955459:2,874,282...2,913,956
Ensembl chrNW_004955459:2,864,580...2,914,263 		JBrowse link
G Map3k2 mitogen-activated protein kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chrNW_004955459:3,135,959...3,196,971
Ensembl chrNW_004955459:3,136,010...3,196,971 		JBrowse link
G Myo7b myosin VIIB ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:28492532 NCBI chrNW_004955459:2,914,409...2,990,591
Ensembl chrNW_004955459:2,914,628...2,976,436 		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 chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 2 ClinVar PMID:25741868 NCBI chrNW_004955453:13,979,080...14,033,718
Ensembl chrNW_004955453:13,976,674...14,033,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14195
    physical disorder 4611
      congenital structural myopathy 129
        centronuclear myopathy 2 9
Path 2
Term Annotations click to browse term
  disease 14195
    disease of anatomical entity 13850
      nervous system disease 12114
        peripheral nervous system disease 3839
          neuropathy 3657
            neuromuscular disease 2855
              muscular disease 2006
                muscle tissue disease 1204
                  myopathy 933
                    congenital myopathy 233
                      congenital structural myopathy 129
                        centronuclear myopathy 32
                          autosomal recessive centronuclear myopathy 13
                            centronuclear myopathy 2 9
paths to the root