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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Bckdha and maple syrup urine disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chuang JL, etal., Am J Hum Genet 1994 Aug;55(2):297-304.
  • The annotation has been inferred from sequence orthology with BCKDHA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Chuang JL, etal., Am J Hum Genet 1994 Aug;55(2):297-304.
  • 104 RGD objects have been annotated to maple syrup urine disease  (DOID:9269)
  • 19 papers in RGD have been used to annotate Bckdha


    • An association has been curated linking Bckdha and maple syrup urine disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zhang B, etal., Mol Biol Med 1991 Feb;8(1):39-47.
  • The annotation has been inferred from sequence orthology with BCKDHA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zhang B, etal., Mol Biol Med 1991 Feb;8(1):39-47.
  • 104 RGD objects have been annotated to maple syrup urine disease  (DOID:9269)
  • 19 papers in RGD have been used to annotate Bckdha


    • An association has been curated linking Bckdha and maple syrup urine disease 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]
  • 104 RGD objects have been annotated to maple syrup urine disease  (DOID:9269)
  • 19 papers in RGD have been used to annotate Bckdha
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
  • Original References(s): PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:1356170 PMID:14517957 PMID:14567968 PMID:16199547 PMID:16468966 PMID:16786533 PMID:1682165 PMID:17576681 PMID:17922217 PMID:18378174 PMID:1867199 PMID:1885764 PMID:1943689 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:2241958 PMID:22593002 PMID:22727569 PMID:23757202 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:2703538 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:31112740 PMID:31119508 PMID:31980395 PMID:32193832 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350


    • An association has been curated linking Bckdha and maple syrup urine disease 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]
  • 104 RGD objects have been annotated to maple syrup urine disease  (DOID:9269)
  • 19 papers in RGD have been used to annotate Bckdha
  • Curation Notes: ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
  • Original References(s): PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:1356170 PMID:14517957 PMID:14567968 PMID:16199547 PMID:16468966 PMID:16786533 PMID:1682165 PMID:17576681 PMID:17922217 PMID:18378174 PMID:1867199 PMID:1885764 PMID:1943689 PMID:19456321 PMID:19480318 PMID:19715473 PMID:20136525 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:2241958 PMID:22593002 PMID:22727569 PMID:23757202 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25525159 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:2703538 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:32193832 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350


    • An association has been curated linking Bckdha and maple syrup urine disease 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]
  • 104 RGD objects have been annotated to maple syrup urine disease  (DOID:9269)
  • 19 papers in RGD have been used to annotate Bckdha
  • Curation Notes: ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
  • Original References(s): PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:1356170 PMID:14517957 PMID:14567968 PMID:14742428 PMID:16199547 PMID:16468966 PMID:16472748 PMID:16786533 PMID:1682165 PMID:17329260 PMID:17576681 PMID:17922217 PMID:18378174 PMID:1867199 PMID:1885764 PMID:1943689 PMID:19456321 PMID:19480318 PMID:19715473 PMID:19763152 PMID:20136525 PMID:20301495 PMID:20307669 PMID:20431954 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:22406018 PMID:2241958 PMID:22593002 PMID:22727569 PMID:23757202 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25741868 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:2703538 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32005694 PMID:32193832 PMID:32812330 PMID:33300147 PMID:34556729 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350


    • An association has been curated linking Bckdha and maple syrup urine disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with BCKDHA (Homo sapiens) [(EXP) inferred from experiment]
  • 104 RGD objects have been annotated to maple syrup urine disease  (DOID:9269)
  • 19 papers in RGD have been used to annotate Bckdha
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Bckdha and maple syrup urine disease 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]
  • 104 RGD objects have been annotated to maple syrup urine disease  (DOID:9269)
  • 19 papers in RGD have been used to annotate Bckdha
  • Curation Notes: ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant
  • Original References(s): PMID:10694918 PMID:10745006 PMID:11069910 PMID:11448970 PMID:11507102 PMID:11825067 PMID:12888983 PMID:1356170 PMID:14517957 PMID:14567968 PMID:14742428 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:19763152 PMID:20136525 PMID:20301495 PMID:20307669 PMID:20431954 PMID:2060625 PMID:20852892 PMID:21098507 PMID:21228398 PMID:21844576 PMID:22145486 PMID:22406018 PMID:2241958 PMID:22593002 PMID:22727569 PMID:23757202 PMID:23765052 PMID:24033266 PMID:24374108 PMID:24772966 PMID:25087612 PMID:25255367 PMID:25333063 PMID:25741868 PMID:25741913 PMID:26232051 PMID:26257134 PMID:26453840 PMID:26786177 PMID:26830710 PMID:26901124 PMID:26937410 PMID:2703538 PMID:27403441 PMID:28170084 PMID:28417071 PMID:28492532 PMID:28830848 PMID:29306928 PMID:29740775 PMID:30228974 PMID:31112740 PMID:31119508 PMID:31523617 PMID:31980395 PMID:31998365 PMID:32005694 PMID:32193832 PMID:32812330 PMID:33300147 PMID:33996492 PMID:34556729 PMID:34738771 PMID:7883996 PMID:8037208 PMID:8161368 PMID:9536098 PMID:9582350


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