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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TMEM126A and optic atrophy 7 in Pan paniscus.        

  • 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 TMEM126A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to optic atrophy 7  (DOID:0111437)
  • 0 papers in RGD have been used to annotate TMEM126A


    • An association has been curated linking TMEM126A and optic atrophy 7 in Pan paniscus.        

  • 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 TMEM126A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to optic atrophy 7  (DOID:0111437)
  • 0 papers in RGD have been used to annotate TMEM126A
  • Curation Notes: ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7
  • Original References(s): PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 PMID:30369941


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