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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Mks1 and Leber congenital amaurosis 6 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 MKS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Leber congenital amaurosis 6  (DOID:0110329)
  • 10 papers in RGD have been used to annotate Mks1
  • Curation Notes: ClinVar Annotator: match by term: Leber congenital amaurosis 6
  • Original References(s): PMID:17397051 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31191208 PMID:35587316 PMID:9536098


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