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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Nsdhl and cerebral creatine deficiency syndrome 1 in Rattus norvegicus.        

  • 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 NSDHL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to cerebral creatine deficiency syndrome 1  (DOID:0050800)
  • 15 papers in RGD have been used to annotate Nsdhl
  • Curation Notes: ClinVar Annotator: match by term: Creatine transporter deficiency
  • Original References(s): PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:9384614


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