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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV136546 and autosomal dominant familial visceral neuropathy 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
  • 6 RGD objects have been annotated to autosomal dominant familial visceral neuropathy  (DOID:0080682)
  • 1 papers in RGD have been used to annotate CV136546
  • Curation Notes: ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
  • Original References(s): PMID:22960657 PMID:24337657 PMID:24676022 PMID:24777424 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:32814715


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