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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ppp1r12a and GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME in Mus musculus.        

  • 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 PPP1R12A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  (DOID:9006721)
  • 8 papers in RGD have been used to annotate Ppp1r12a


    • An association has been curated linking Ppp1r12a and GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME in Mus musculus.        

  • 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 PPP1R12A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  (DOID:9006721)
  • 8 papers in RGD have been used to annotate Ppp1r12a
  • Curation Notes: ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome | ClinVar Annotator: match by term: PPP1R12A-related condition
  • Original References(s): PMID:25741868 PMID:28492532 PMID:31349857 PMID:31883643


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