GLDC, glycine decarboxylase, 2731

N. diseases: 78; N. variants: 146
Disease: Nonketotic Hyperglycinemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1207147043
rs1207147043 		1.000 0.120 9 6604735 missense variant G/A snv
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017