Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852937
rs137852937
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		0.800 GeneticVariation UNIPROT The three-dimensional structural basis of type II hyperprolinemia. 22516612 2012
dbSNP: rs137852937
rs137852937
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
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
dbSNP: rs137852937
rs137852937
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906314
rs387906314
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		G 0.700 GeneticVariation CLINVAR Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195 1998
dbSNP: rs1557620472
rs1557620472
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906314
rs387906314
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs779536510
rs779536510
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs78532707
rs78532707
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs78532707
rs78532707
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
CUI: C2931835
Disease:
Hyperprolinemia type 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852937
rs137852937
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1
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