COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Disease: Osteogenesis imperfecta, Levin type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, Levin type 		0.010 GeneticVariation disease BEFREE De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD. 28087732 2017