SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Disease: Steatohepatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 Biomarker disease BEFREE Acid sphingomyelinase deficiency in Western diet-fed mice protects against adipocyte hypertrophy and diet-induced liver steatosis. 28462076 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 AlteredExpression disease BEFREE Compared to ASMase(+/+) mice, ASMase(-/-) mice exhibited decreased expression of ER stress markers induced by alcohol, but the level of tunicamycin-mediated upregulation of ER stress markers and steatosis was similar in both types of mice. 23707365 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.030 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