Disease: Niemann-Pick Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		0.010 GeneticVariation group BEFREE Human sphingomyelinase phosphodiesterase like 3a (SMPDL3a) is a secreted enzyme that shares a conserved catalytic domain with human acid sphingomyelinase (aSMase), the enzyme carrying mutations causative of Niemann-Pick disease. 26783088 2016