NIPA2, NIPA magnesium transporter 2, 81614

N. diseases: 10; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.030 GeneticVariation disease BEFREE To reveal the pathogenesis and find the precision treatment for the childhood absence epilepsy (CAE) patients with NIPA2 mutations. 30895737 2019
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		0.030 GeneticVariation disease BEFREE To reveal the pathogenesis and find the precision treatment for the childhood absence epilepsy (CAE) patients with NIPA2 mutations. 30895737 2019
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.030 Biomarker disease BEFREE This study primarily reveals that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE. 25347071 2014
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		0.030 Biomarker disease BEFREE This study primarily reveals that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE. 25347071 2014
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.030 Biomarker disease BEFREE We first identified that NIPA2, encoding a selective magnesium transporter, is a susceptible gene of CAE, and 15q11.2 microdeletions are important pathogenic CNVs for CAE with higher frequency in Chinese populations than that previously reported in Caucasians. 22367439 2012
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		0.030 Biomarker disease BEFREE We first identified that NIPA2, encoding a selective magnesium transporter, is a susceptible gene of CAE, and 15q11.2 microdeletions are important pathogenic CNVs for CAE with higher frequency in Chinese populations than that previously reported in Caucasians. 22367439 2012
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE The study suggests that NIPA2 is a potential target for the treatment of type 2 diabetes osteoporosis. 31003774 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Zonisamide is probably a potential treatment for NIPA2 mutation-induced epilepsy, which may provide a basis for the development of new treatment strategies for epilepsy. 30895737 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 Biomarker disease BEFREE The study suggests that NIPA2 is a potential target for the treatment of type 2 diabetes osteoporosis. 31003774 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.010 GeneticVariation disease BEFREE TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader-Willi and Angelman syndromes. 28387067 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE TUBGCP5, CFYIP1, NIPA1 and NIPA2 genes are located in this chromosome 15 region and when disturbed individually are known to cause neurological, cognitive or behavioural problems as well as playing a role in both Prader-Willi and Angelman syndromes. 28387067 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.010 AlteredExpression disease LHGDN Messenger RNA from NIPA1, NIPA2, CYFIP1, and GCP5 was reduced but detectable in the subjects with Prader-Willi syndrome with the TI deletion, supporting biallelic expression. 16982806 2006
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 AlteredExpression group LHGDN Gene expression profiling predicts clinical outcome of prostate cancer. 15067324 2004
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.010 Biomarker group BEFREE Our data suggest that gene deletions (NIPA1, NIPA2, CYF1P1, GCP5) mapped to the region between breakpoints BP1 and BP2 may be involved in the severity of speech impairment, since all BP1-BP3 deletion patients showed complete absence of vocalization, while 38.1% of the BP2-BP3 deletion patients were able to pronounce syllabic sounds, with doubtful meaning. 15470370 2004