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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Abca12 and autosomal recessive congenital ichthyosis 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 ABCA12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 5 papers in RGD have been used to annotate Abca12
  • Curation Notes: ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:15756637 PMID:17508018 PMID:17576681 PMID:17684380 PMID:19262603 PMID:20672373 PMID:20849526 PMID:22992804 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:30916489 PMID:31168818 PMID:31586585 PMID:32293521 PMID:32707200 PMID:9536098


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