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GENE - TERM ANNOTATION REPORT

RGD ID: 1307669
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Myoz2
Name: myozenin 2
Acc ID: DOID:0110322
Term: hypertrophic cardiomyopathy 16
Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17347475 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Myoz2 ISOMYOZ2 (Homo sapiens)7240710OMIM  
Myoz2 ISOMYOZ2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Myoz2 ISOMYOZ2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related conditionPMID:17347475 PMID:17434779 PMID:19472918 PMID:21520333 PMID:21681106 PMID:22987565 PMID:23310962 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28798025 PMID:31110529 PMID:31513939 PMID:31534214
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