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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cldn1 and ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis in Heterocephalus glaber.        

  • 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 CLDN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis  (DOID:9007711)
  • 0 papers in RGD have been used to annotate Cldn1


    • An association has been curated linking Cldn1 and ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis in Heterocephalus glaber.        

  • 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 CLDN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis  (DOID:9007711)
  • 0 papers in RGD have been used to annotate Cldn1
  • Curation Notes: ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
  • Original References(s): PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 PMID:35920354 PMID:36779798 PMID:37814412


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