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GENE - TERM ANNOTATION REPORT

RGD ID: 628830
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Myo7a
Name: myosin VIIA
Acc ID: DOID:0110829
Term: retinitis pigmentosa-deafness syndrome
Definition: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10090882 "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)
Myo7a ISOMYO7A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndromePMID:24033266 PMID:28492532
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