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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SLC12A4 and Norum disease in Pan paniscus.        

  • 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 SLC12A4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Norum disease  (DOID:1391)
  • 0 papers in RGD have been used to annotate SLC12A4
  • Curation Notes: ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease
  • Original References(s): PMID:1571050 PMID:15994445 PMID:1662503 PMID:21875686 PMID:21901787 PMID:22189200 PMID:24636183 PMID:24715031 PMID:25727495 PMID:25741868 PMID:26195816 PMID:28492532 PMID:29030428 PMID:30333156 PMID:32041611 PMID:33816482 PMID:7613477 PMID:9541390 PMID:9741700


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