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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Vldlr and Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with VLDLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1  (DOID:9002943)
  • 39 papers in RGD have been used to annotate Vldlr


  • An association has been curated linking Vldlr and Cerebellar Ataxia, Mental Retardation, and Dysequilibrium 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 VLDLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1  (DOID:9002943)
  • 39 papers in RGD have been used to annotate Vldlr
  • Curation Notes: ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
  • Original References(s): PMID:11913577 PMID:16080122 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:20301729 PMID:22700954 PMID:22973972 PMID:25741868 PMID:28492532


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