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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking B4galnt1 and paraplegia in Chinchilla lanigera.        

  • 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 B4GALNT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 538 RGD objects have been annotated to paraplegia  (DOID:607)
  • 2 papers in RGD have been used to annotate B4galnt1
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia
  • Original References(s): PMID:16199547 PMID:17576681 PMID:23746551 PMID:24103911 PMID:24283893 PMID:25741868 PMID:28492532 PMID:28709807 PMID:29983310 PMID:30521973 PMID:31812852 PMID:32214227 PMID:9536098


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