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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Krit1 and Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
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  • 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 KRIT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  (DOID:9002924)
  • 10 papers in RGD have been used to annotate Krit1
  • Curation Notes: ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
  • Original References(s): PMID:10814716


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