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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Serac1 and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in Mus musculus.        

  • 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 SERAC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 27 RGD objects have been annotated to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  (DOID:0110001)
  • 5 papers in RGD have been used to annotate Serac1


    • An association has been curated linking Serac1 and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 27 RGD objects have been annotated to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  (DOID:0110001)
  • 5 papers in RGD have been used to annotate Serac1
  • Curation Notes: OMIM:614739


    • An association has been curated linking Serac1 and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in Mus musculus.        

  • 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 SERAC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 27 RGD objects have been annotated to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  (DOID:0110001)
  • 5 papers in RGD have been used to annotate Serac1
  • Curation Notes: ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome
  • Original References(s): PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:25741916 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:29686941 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 PMID:9536098


    • An association has been curated linking Serac1 and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in Mus musculus.        

  • 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 SERAC1 (Homo sapiens) [(EXP) inferred from experiment]
  • 27 RGD objects have been annotated to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  (DOID:0110001)
  • 5 papers in RGD have been used to annotate Serac1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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