rs2230469, PIP4K2A

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.020 GeneticVariation BEFREE Coexpression of the schizophrenia-associated mutant (N251S)PIP5K2A significantly decreased I(glu) in oocytes expressing EAAT3 with or without additional expression of wild type PIP5K2A. 19644675 2009
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.020 GeneticVariation BEFREE At least, the insufficiency of (N251S)-PIP5K2A to stimulate neuronal M channels may contribute to the clinical phenotype of schizophrenia. 18545987 2008
Tardive Dyskinesia
CUI: C0686347
Disease: Tardive Dyskinesia
0.010 GeneticVariation BEFREE A significant association was established between the functional mutation N251S-polymorphism of the PIP5K2A gene (rs10828317) and tardive dyskinesia, while the other 2 examined nonfunctional single nucleotide polymorphisms were not related. 25548108 2014
Drug-induced tardive dyskinesia
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
0.010 GeneticVariation BEFREE A significant association was established between the functional mutation N251S-polymorphism of the PIP5K2A gene (rs10828317) and tardive dyskinesia, while the other 2 examined nonfunctional single nucleotide polymorphisms were not related. 25548108 2014