rs2904551, PRODH

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Proline dehydrogenase deficiency
CUI: C0268529
Disease: Proline dehydrogenase deficiency
0.810 GeneticVariation BEFREE In particular, the mutation giving rise to the substitution Leu441Pro was identified in patients suffering of schizophrenia and hyperprolinemia type I. 29694413 2018
Proline dehydrogenase deficiency
CUI: C0268529
Disease: Proline dehydrogenase deficiency
0.810 GeneticVariation UNIPROT Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. 17135275 2007
Proline dehydrogenase deficiency
CUI: C0268529
Disease: Proline dehydrogenase deficiency
0.810 GeneticVariation UNIPROT Functional consequences of PRODH missense mutations. 15662599 2005
Proline dehydrogenase deficiency
CUI: C0268529
Disease: Proline dehydrogenase deficiency
0.810 GeneticVariation UNIPROT PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. 12217952 2002
Proline dehydrogenase deficiency
CUI: C0268529
Disease: Proline dehydrogenase deficiency
0.810 SusceptibilityMutation CLINVAR
Proline dehydrogenase deficiency
CUI: C0268529
Disease: Proline dehydrogenase deficiency
0.810 CausalMutation CLINVAR
SCHIZOPHRENIA 4 (disorder)
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
0.700 GeneticVariation UNIPROT Functional consequences of PRODH missense mutations. 15662599 2005
SCHIZOPHRENIA 4 (disorder)
CUI: C1833247
Disease: SCHIZOPHRENIA 4 (disorder)
0.700 GeneticVariation UNIPROT Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. 11891283 2002
Hyperprolinemia
CUI: C0268528
Disease: Hyperprolinemia
0.020 GeneticVariation BEFREE Interestingly, three of the four alleles associated with or found in schizophrenia (V427M, L441P, and R453C) resulted in severe reduction of POX activity and hyperprolinemia. 15662599 2005
Hyperprolinemia
CUI: C0268528
Disease: Hyperprolinemia
0.020 GeneticVariation BEFREE Segregation analysis within the two families harboring respectively the PRODH deletion and the L441P mutation showed that the presence of a second PRODH nucleotide variation resulted in higher levels of prolinemia. 12217952 2002
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.010 GeneticVariation BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.010 GeneticVariation BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.010 GeneticVariation BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE In particular, the mutation giving rise to the substitution Leu441Pro was identified in patients suffering of schizophrenia and hyperprolinemia type I. 29694413 2018
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.010 GeneticVariation BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018