Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		0.730 Biomarker BEFREE Type II hyperprolinemia is an autosomal recessive disorder caused by a deficiency in Δ(1)-pyrroline-5-carboxylate dehydrogenase (P5CDH; also known as ALDH4A1), the aldehyde dehydrogenase that catalyzes the oxidation of glutamate semialdehyde to glutamate. 22516612

2012
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		0.730 Biomarker BEFREE The solved structures suggest an overall view of the P5CDh catalytic mechanism and provide insights into the P5CDh deficiencies in the case of the human type II hyperprolinemia. 16934832

2006
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		0.730 GeneticVariation BEFREE Mutations in ALDH4A1 are associated with type II hyperprolinemia. 10971205

2000