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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking DLD and Congenital Infantile Lactic Acidosis due to LAD Deficiency in Pan paniscus.        

  • 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 DLD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Congenital Infantile Lactic Acidosis due to LAD Deficiency  (DOID:9002135)
  • 0 papers in RGD have been used to annotate DLD


    • An association has been curated linking DLD and Congenital Infantile Lactic Acidosis due to LAD Deficiency in Pan paniscus.        

  • 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 DLD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Congenital Infantile Lactic Acidosis due to LAD Deficiency  (DOID:9002135)
  • 0 papers in RGD have been used to annotate DLD
  • Curation Notes: ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3
  • Original References(s): PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:1347528 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:1640293 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:21996136 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:25741914 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 PMID:31334547 PMID:31683770 PMID:33092611 PMID:33306821 PMID:34426522 PMID:34684524 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985


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