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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MITF and sensorineural hearing loss in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:12742240 (Homo sapiens)
  • 906 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 10 papers in RGD have been used to annotate MITF
  • Curation Notes: ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
  • Original References(s): PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 PMID:25741868 PMID:28492532 PMID:29407415 PMID:29531335 PMID:30394532 PMID:8659547


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