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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking KCNMA1 and intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:38597543 (Homo sapiens)
  • 6934 RGD objects have been annotated to intellectual disability  (DOID:1059)
  • 9 papers in RGD have been used to annotate KCNMA1
  • Curation Notes: ClinVar Annotator: match by term: Mental-retardation
  • Original References(s): PMID:25741868 PMID:31152168


  • An association has been curated linking KCNMA1 and intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10047525 (Homo sapiens)
  • 6934 RGD objects have been annotated to intellectual disability  (DOID:1059)
  • 9 papers in RGD have been used to annotate KCNMA1
  • Curation Notes: ClinVar Annotator: match by term: Intellectual disability
  • Original References(s): PMID:19266219 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking KCNMA1 and intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13608015 (Homo sapiens)
  • 6934 RGD objects have been annotated to intellectual disability  (DOID:1059)
  • 9 papers in RGD have been used to annotate KCNMA1
  • Curation Notes: ClinVar Annotator: match by term: Intellectual disability
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking KCNMA1 and intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:40814252 (Homo sapiens)
  • 6934 RGD objects have been annotated to intellectual disability  (DOID:1059)
  • 9 papers in RGD have been used to annotate KCNMA1
  • Curation Notes: ClinVar Annotator: match by term: Intellectual disability
  • Original References(s): PMID:25741868 PMID:31152168


  • An association has been curated linking KCNMA1 and intellectual disability in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11660758 (Homo sapiens)
  • 6934 RGD objects have been annotated to intellectual disability  (DOID:1059)
  • 9 papers in RGD have been used to annotate KCNMA1
  • Curation Notes: ClinVar Annotator: match by term: intellectual disabilities
  • Original References(s): PMID:25741868 PMID:28492532


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