Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.010 GeneticVariation group BEFREE A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic. 24643943 2014