FA2H, fatty acid 2-hydroxylase, 79152

N. diseases: 131; N. variants: 14
Disease: KUFOR-RAKEB SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		0.010 GeneticVariation disease BEFREE Rare recessive causes include PLA2G6 mutations (infantile neuroaxonal dystrophy), and mutations of ATP13A2 (Kufor Rakeb syndrome) and FA2H. 22515743 2012