Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346054
Disease: Verruciform xanthoma of skin
Verruciform xanthoma of skin
0.010 GeneticVariation disease BEFREE Two of 9 VXs (22%) demonstrated a novel somatic missense mutation in exon 6 of the NSDHL gene. 16230564 2005