COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Disease: Fatty Acid Hydroxylase-Associated Neurodegeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3668943
Disease: Fatty Acid Hydroxylase-Associated Neurodegeneration
Fatty Acid Hydroxylase-Associated Neurodegeneration 		0.010 Biomarker disease BEFREE The ultrarare NBIA disorders are caused by mutations in CoASY, ATP13A2, and FA2H (causing CoA synthase protein-associated neurodegeneration, Kufor-Rakeb disease, and fatty acid hydroxylase-associated neurodegeneration, respectively). 29325618 2018