NIPA2, NIPA magnesium transporter 2, 81614

N. diseases: 10; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3693
rs3693
Entrez Id: 23191;81614
Gene Symbol: CYFIP1;NIPA2
CYFIP1;NIPA2
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE We identified nominally significant (alpha < 0.05) GxE interactions of acute life events with CYFIP1-rs3693 on ADHD diagnosis (p = 0.004; fdr = 0.096) but no significant association of any single marker. 31707462 2019
dbSNP: rs371775791
rs371775791
Entrez Id: 81614
Gene Symbol: NIPA2
NIPA2
CUI: C0014553
Disease:
Absence Epilepsy
0.010 GeneticVariation BEFREE The protein NIPA2 (non-imprinted in Prader-Willi/Angelman syndrome region protein 2) is a highly selective magnesium transporter encoded by the gene NIPA2 in which we have found three mutations (p.I178F, p.N244S and p.N334_E335insD) within a population of patients with childhood absence epilepsy (CAE). 25347071 2014
dbSNP: rs371775791
rs371775791
Entrez Id: 81614
Gene Symbol: NIPA2
NIPA2
CUI: C4281785
Disease:
Childhood Absence Epilepsy
0.010 GeneticVariation BEFREE The protein NIPA2 (non-imprinted in Prader-Willi/Angelman syndrome region protein 2) is a highly selective magnesium transporter encoded by the gene NIPA2 in which we have found three mutations (p.I178F, p.N244S and p.N334_E335insD) within a population of patients with childhood absence epilepsy (CAE). 25347071 2014