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GENE - TERM ANNOTATION REPORT

16 Annotations Found.

An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8562823 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:2010537


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8640933 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:17576681 PMID:18378174 PMID:25741868 PMID:26257134 PMID:28492532 PMID:31980395 PMID:33083013 PMID:9536098


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8562821 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:1990841


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8562822 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:1943690


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8562826 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:14508502


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8598835 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:28492532 PMID:9621512


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8562825 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:14517957 PMID:16468966 PMID:16579849 PMID:16786533 PMID:20639189 PMID:25741868 PMID:28417071 PMID:28492532 PMID:8430702


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8562824 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:19823873 PMID:25741868 PMID:28492532 PMID:28497172 PMID:9621512


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8640925 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:16579849 PMID:16786533 PMID:25741868 PMID:28492532 PMID:32812330 PMID:8430702


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:151713401 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:25741868 PMID:27578510 PMID:28492532 PMID:31980395 PMID:35799415


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:405281865 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:25741915


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8598832 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:14517957 PMID:16786533 PMID:1847055 PMID:24772966 PMID:25741868 PMID:28492532 PMID:31980395 PMID:36361642 PMID:9239422


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8598836|RGD:8598837 (Homo sapiens) & RGD:8598836|RGD:8598837 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:14742428


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:8598833|RGD:8598834 (Homo sapiens) & RGD:8598833|RGD:8598834 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:9621512


    • An association has been curated linking DBT and Maple Syrup Urine Disease, Type 2 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:14697739|RGD:14700526 (Homo sapiens) & RGD:14697739|RGD:14700526 (Homo sapiens)
  • 1 RGD objects have been annotated to Maple Syrup Urine Disease, Type 2  (DOID:9005672)
  • 8 papers in RGD have been used to annotate DBT
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 2
  • Original References(s): PMID:25741868 PMID:31319225


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