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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MMACHC and homocystinuria in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10058847 (Homo sapiens)
  • 112 RGD objects have been annotated to homocystinuria  (DOID:9263)
  • 4 papers in RGD have been used to annotate MMACHC
  • Curation Notes: ClinVar Annotator: match by term: Homocystinuria
  • Original References(s): PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 PMID:34356170


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