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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Mmachc and fundus dystrophy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MMACHC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 726 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 4 papers in RGD have been used to annotate Mmachc
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16311595 PMID:19370762 PMID:24210589 PMID:25398587 PMID:25741868 PMID:28492532 PMID:30197982 PMID:32071835 PMID:32481360 PMID:33473346


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