SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009319
Disease: Colitis
Colitis
0.020 Biomarker disease BEFREE The therapeutic effect of NPD-0414-2 and NPD-0414-24 on the ongoing colitis was abrogated in AhR-deficient mice. 31031628 2019
CUI: C0009319
Disease: Colitis
Colitis
0.020 GeneticVariation disease BEFREE In the present study, we determined the impact of acid sphingomyelinase (Asm), which catalyzes the hydrolysis of sphingomyelin to ceramide, on the course of <i>Citrobacter (C.) rodentium</i>-driven colitis.<i>C. rodentium</i> is an enteric pathogen and induces colonic inflammation very similar to the pathology in patients with ulcerative colitis. 31275322 2019