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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MPZ and Congenital Hypomyelinating Neuropathy 2 in Sus scrofa.        

  • 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 MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Congenital Hypomyelinating Neuropathy 2  (DOID:9004832)
  • 0 papers in RGD have been used to annotate MPZ


  • An association has been curated linking MPZ and Congenital Hypomyelinating Neuropathy 2 in Sus scrofa.        

  • 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 MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Congenital Hypomyelinating Neuropathy 2  (DOID:9004832)
  • 0 papers in RGD have been used to annotate MPZ
  • Curation Notes: ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2
  • Original References(s): PMID:10319895 PMID:10737979 PMID:11545686 PMID:12953275 PMID:15094849 PMID:15184631 PMID:15241803 PMID:15642860 PMID:20456450 PMID:25614874 PMID:25741868 PMID:26135405 PMID:26392352 PMID:26467025 PMID:28492532 PMID:32376792 PMID:7527371 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9888385


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