Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Bcap31 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 BCAP31 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to cerebral creatine deficiency syndrome 1  (DOID:0050800)
  • 14 papers in RGD have been used to annotate Bcap31
  • Curation Notes: ClinVar Annotator: match by term: Creatine transporter deficiency
  • Original References(s): PMID:10480214 PMID:11748843 PMID:11968085 PMID:15351775 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17088400 PMID:17172942 PMID:18047645 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22578097 PMID:22659343 PMID:23220634 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:26930212 PMID:28492532 PMID:29334594 PMID:9384614


  • Go Back to source page   Continue to Ontology report