rs10828317, PIP4K2A

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
0.700 GeneticVariation GWASCAT Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. 29632299 2018
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
0.700 GeneticVariation GWASCAT Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. 23996088 2013
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
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
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE The single nucleotide polymorphism rs10828317 is responsible for the N215S polymorphism in exon 7 of PIP4K2A, and rs3824662 localizes to intron 3 of the transcription factor and putative tumor suppressor gene GATA3. 23996088 2013
Hyperdiploid B Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE A recent family-based transmission disequilibrium test in the German and Israeli populations found that four single nucleotide polymorphisms, rs1417374, rs10828317, rs746203 and rs8341 in this gene or nearby intergenic regions are significantly associated with schizophrenia. 17555944 2007