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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ATP6V1B2 and autosomal dominant congenital deafness with onychodystrophy in Canis lupus familiaris.        

  • 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 ATP6V1B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant congenital deafness with onychodystrophy  (DOID:0080720)
  • 0 papers in RGD have been used to annotate ATP6V1B2


    • An association has been curated linking ATP6V1B2 and autosomal dominant congenital deafness with onychodystrophy in Canis lupus familiaris.        

  • 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 ATP6V1B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant congenital deafness with onychodystrophy  (DOID:0080720)
  • 0 papers in RGD have been used to annotate ATP6V1B2
  • Curation Notes: ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
  • Original References(s): PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 PMID:31655144


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