Gene: ALDH4A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease CTD_human Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors. 25641190 2015
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 GeneticVariation disease UNIPROT The three-dimensional structural basis of type II hyperprolinemia. 22516612 2012
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease 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 		0.730 Biomarker disease 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 		0.730 GeneticVariation disease BEFREE Mutations in ALDH4A1 are associated with type II hyperprolinemia. 10971205 2000
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 GeneticVariation disease UNIPROT Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195 1998
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195 1998
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease CLINGEN Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195 1998
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 GeneticVariation disease CLINVAR Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195 1998
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 GermlineCausalMutation disease ORPHANET Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195 1998
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease CLINGEN Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. 4369405 1974
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease CLINGEN The interconversion of glutamic acid and proline. II. The preparation and properties of delta 1-pyrroline-5-carboxylic acid. 13835167 1960
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8659
Gene Symbol: ALDH4A1
ALDH4A1 		0.730 CausalMutation disease CLINVAR