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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pcdh12 and Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 in Rattus norvegicus.        

  • 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 PCDH12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  (DOID:9002568)
  • 7 papers in RGD have been used to annotate Pcdh12


    • An association has been curated linking Pcdh12 and Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 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 PCDH12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  (DOID:9002568)
  • 7 papers in RGD have been used to annotate Pcdh12
  • Curation Notes: ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1
  • Original References(s): PMID:22822038 PMID:25741868 PMID:27164683 PMID:28492532 PMID:29556033 PMID:30178464 PMID:33527719 PMID:7774041


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