COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Disease: Dyschromatosis universalis hereditaria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930995
Disease: Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 		0.010 GeneticVariation disease BEFREE When identifying the causative gene of dyschromatosis universalis hereditaria (DUH), we found three mutations encoding amino acid substitutions in the gene SAM and SH3 domain containing 1 (SASH1), and SASH1 was associated with guanine nucleotide-binding protein subunit-alpha isoforms short (Gαs). 27885802 2017