rs137852937, ALDH4A1

N. diseases: 2
Disease: Hyperprolinemia type 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperprolinemia type 2
CUI: C2931835
Disease: Hyperprolinemia type 2
0.800 GeneticVariation UNIPROT The three-dimensional structural basis of type II hyperprolinemia. 22516612 2012
Hyperprolinemia type 2
CUI: C2931835
Disease: Hyperprolinemia type 2
0.800 GeneticVariation UNIPROT Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195 1998
Hyperprolinemia type 2
CUI: C2931835
Disease: Hyperprolinemia type 2
0.800 CausalMutation CLINVAR