FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
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 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
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.020 Biomarker disease BEFREE Regarding the cell types involved, TROCI-BM cells were found to express CD117/Kit in all cases of SM and MCL. 16505282 2006