CPS1, carbamoyl-phosphate synthase 1, 1373

N. diseases: 133; N. variants: 120
Disease: Hypertensive disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 Biomarker group RGD S 35171 exerts protective effects in spontaneously hypertensive stroke-prone rats by preserving mitochondrial function. 19135993 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 GeneticVariation group LHGDN Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. 17188582 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 GeneticVariation group BEFREE A well-characterized polymorphism in the gene encoding CPSI (T1405N) has previously been implicated in neonatal pulmonary hypertension. 17188582 2007