COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Disease: Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3496228
Disease: Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 		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