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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mccc1 and 3-methylcrotonyl-CoA carboxylase 1 deficiency in Chinchilla lanigera.        

  • 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 MCCC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 23 RGD objects have been annotated to 3-methylcrotonyl-CoA carboxylase 1 deficiency  (DOID:0080579)
  • 2 papers in RGD have been used to annotate Mccc1


    • An association has been curated linking Mccc1 and 3-methylcrotonyl-CoA carboxylase 1 deficiency in Chinchilla lanigera.        

  • 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 MCCC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 23 RGD objects have been annotated to 3-methylcrotonyl-CoA carboxylase 1 deficiency  (DOID:0080579)
  • 2 papers in RGD have been used to annotate Mccc1
  • Curation Notes: ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency
  • Original References(s): PMID:10485305 PMID:11170888 PMID:11181649 PMID:11406611 PMID:14680978 PMID:15359379 PMID:15868465 PMID:16010683 PMID:16199547 PMID:16835865 PMID:17576681 PMID:17968484 PMID:19339287 PMID:21071250 PMID:22264772 PMID:22642865 PMID:24033266 PMID:24078573 PMID:25190158 PMID:25356967 PMID:25382614 PMID:25640679 PMID:25741868 PMID:26566957 PMID:27577216 PMID:27601257 PMID:28492532 PMID:29111448 PMID:30626930 PMID:30838026 PMID:30887117 PMID:30904546 PMID:31730530 PMID:31737040 PMID:31901042 PMID:32746448 PMID:35281663 PMID:35664874 PMID:36787440 PMID:36822454 PMID:38374194 PMID:38784038 PMID:9187484 PMID:9536098


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