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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mthfsl and Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 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 ST20-MTHFS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  (DOID:9000512)
  • 3 papers in RGD have been used to annotate Mthfsl
  • Curation Notes: ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
  • Original References(s): PMID:25741868 PMID:30031689


  • An association has been curated linking Mthfsl and Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 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 ST20-MTHFS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  (DOID:9000512)
  • 3 papers in RGD have been used to annotate Mthfsl
  • Curation Notes: ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
  • Original References(s): PMID:30031689


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