GLDC, glycine decarboxylase, 2731

N. diseases: 78; N. variants: 146
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023380
Disease: Lethargy
Lethargy
0.110 Biomarker phenotype BEFREE Nonketotic hyperglycinemia (NKH) is an inborn error of glycine degradation causing muscular hypotonia, seizures, apnea, and lethargy; it has a poor prognosis. 8657542 1996
CUI: C0023380
Disease: Lethargy
Lethargy
0.110 Biomarker phenotype HPO