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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GFER and Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with GFER (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  (DOID:9007052)
  • 0 papers in RGD have been used to annotate GFER


    • An association has been curated linking GFER and Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay in Chlorocebus sabaeus.        

  • 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 GFER (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  (DOID:9007052)
  • 0 papers in RGD have been used to annotate GFER
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
  • Original References(s): PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:26944241 PMID:28155230 PMID:28492532 PMID:28812649 PMID:28939701 PMID:34732400 PMID:8627443


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