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GENE - TERM ANNOTATION REPORT

74 Annotations Found.

An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151762145 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151784090 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:126915630 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:126924049 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15159113 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:38474053 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:10053239 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15142812 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:13517808 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15108490 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:8659097 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:127308562 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:10049720 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15107409 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15196753 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:13216474 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15141062 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:38499678 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151793895 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:10049978 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:8659098 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:13519955 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:11638034 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151742532 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151796078 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:127297345 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:8570621 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: BCKDK DEFICIENCY
  • Original References(s): PMID:22956686


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:8570622 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: BCKDK DEFICIENCY
  • Original References(s): PMID:22956686


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:8570623 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: BCKDK DEFICIENCY
  • Original References(s): PMID:22956686


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:38498416 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:26902115 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:127253210 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:38457503 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:13838492 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:10049719 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:14701139 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:14707564 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:10052166 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:152055175 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15135680 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:152069239 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:152160806 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:152129638 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:152152654 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:152106656 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • The annotation has been inferred from sequence orthology with Bckdk (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 37 additional annotations were made from Zigler JS, etal., PLoS One. 2016 Jul 29;11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: DNA:missense mutation:cds:G369E (rat)


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156094957 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:21074020 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868 PMID:26467025


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:150453172 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:126748377 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:126743191 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:126761527 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:126747554 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151852933 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151806944 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:151858316 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:153302417 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:152114010 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156436942 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156287010 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156040789 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:10049979 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156141517 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156097949 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:9692718 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:155940169 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156045878 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:15138284 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156342180 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156137384 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156198550 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156399210 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking BCKDK and branched-chain keto acid dehydrogenase kinase deficiency 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:156040781 (Homo sapiens)
  • 40 RGD objects have been annotated to branched-chain keto acid dehydrogenase kinase deficiency  (DOID:0090126)
  • 6 papers in RGD have been used to annotate BCKDK
  • Curation Notes: ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency
  • Original References(s): PMID:28492532


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