rs2904551, PRODH

N. diseases: 8
Disease: Proline dehydrogenase deficiency ×
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