SMPD1, sphingomyelin phosphodiesterase 1, 6609

N. diseases: 247; N. variants: 130
Disease: Mastocytosis, Systemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.020 Biomarker disease BEFREE In routine practice, the World Health Organization classification of systemic mastocytosis (SM) is also the de facto prognostic system; a core value is distinguishing indolent (ISM) from advanced SM (includes aggressive SM [ASM], SM with associated hematological neoplasm [SM-AHN] and mast cell leukemia [MCL]). 27214377 2016
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.020 GeneticVariation disease BEFREE If positive in BM, the KIT D816V mutation was found in PB of all patients with advanced SM (SM-AHNMD, ASM, and MCL) and in 46 % (23/50) of patients with ISM. 24281161 2014