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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bckdha and Maple Syrup Urine Disease, Type 1A 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 BCKDHA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Maple Syrup Urine Disease, Type 1A  (DOID:9008834)
  • 19 papers in RGD have been used to annotate Bckdha
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease type 1A
  • Original References(s): PMID:10694918 PMID:10745006 PMID:11069910 PMID:11507102 PMID:11825067 PMID:12888983 PMID:1356170 PMID:14517957 PMID:14567968 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:1867199 PMID:1885764 PMID:1943689 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20301495 PMID:20431954 PMID:2060625 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:2241958 PMID:22593002 PMID:22727569 PMID:23765052 PMID:24374108 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25741868 PMID:25741909 PMID:25741913 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:2703538 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:29306928 PMID:29740775 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32193832 PMID:32812330 PMID:33300147 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350


    • An association has been curated linking Bckdha and Maple Syrup Urine Disease, Type 1A 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 BCKDHA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Maple Syrup Urine Disease, Type 1A  (DOID:9008834)
  • 19 papers in RGD have been used to annotate Bckdha


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