PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Children with inborn errors of PC metabolism have lactic acidosis, hypoglycemia, and mental retardation. 9585002 1998
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO