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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PAH and POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS in Sus scrofa.        

  • 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 PAH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS  (DOID:9008864)
  • 0 papers in RGD have been used to annotate PAH
  • Curation Notes: ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
  • Original References(s): PMID:10394930 PMID:11385716 PMID:11524738 PMID:11696894 PMID:12655546 PMID:12655553 PMID:16198137 PMID:16765994 PMID:17924342 PMID:17935162 PMID:18493213 PMID:1971144 PMID:2014036 PMID:21953985 PMID:22763404 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23430918 PMID:23500595 PMID:24350308 PMID:24368688 PMID:24941924 PMID:2564729 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 PMID:8533759 PMID:9101291 PMID:9399896 PMID:9634518 PMID:9781015


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