SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Disease: Fatty Liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 Biomarker disease BEFREE Acid sphingomyelinase deficiency in Western diet-fed mice protects against adipocyte hypertrophy and diet-induced liver steatosis. 28462076 2017
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.020 AlteredExpression disease BEFREE Examples include the pharmacological inhibition of serine palmitoyltransferase or glucosylceramide synthase or the genetic depletion of acid sphingomyelinase, which dramatically reduce hepatic triglyceride levels in mice susceptible to the development of a fatty liver. 21910084 2011