rs137852937, ALDH4A1

N. diseases: 2
Disease: Hyperprolinemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperprolinemia
CUI: C0268528
Disease: Hyperprolinemia
0.010 GeneticVariation BEFREE Here, we report the first structure of human P5CDH (HsP5CDH) and investigate the impact of the hyperprolinemia-associated mutation of Ser352 to Leu on the structure and catalytic properties of the enzyme.The 2. 22516612 2012