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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rfx6 and Martinez-Frias Syndrome in Rattus norvegicus.        

  • 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 RFX6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Martinez-Frias Syndrome  (DOID:9006077)
  • 5 papers in RGD have been used to annotate Rfx6
  • Curation Notes: ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA
  • Original References(s): PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:27523286 PMID:28492532 PMID:29026101


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