Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. 20920666 2010