COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Disease: Pontoneocerebellar hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		0.010 GeneticVariation disease BEFREE Using whole-exome sequencing, we identified variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis, in four individuals from two families with PCH, prenatal onset microcephaly, and arthrogryposis. 30089828 2018