SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Disease: Mental disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.020 Biomarker group BEFREE The structure of ASPD and NPD traits does not align neatly with Diagnostic and Statistical Manual of Mental Disorders (DSM-5) Section II conceptualizations, Regardless of the factor analytic approach used. 30368807 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.020 GeneticVariation group BEFREE All affected subjects were homozygous for the same ancestral mutation, W391G in SMPD1, yet displayed the entire spectrum of phenotypic variation observed previously in unrelated affected subjects of diverse ethnicity and disease-causing mutations, ranging from subclinical retinal involvement to severe ataxia, cognitive deficits and psychiatric disorders. 17360762 2007