SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease BEFREE NKCC1 is an electroneutral neuronal Cl<sup>-</sup> importer and the dominance of NKCC1 function has been proposed as the common pathology for HIE seizures, TLE, autism, and schizophrenia. 31068771 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET Together, these preclinical and clinical results suggest that variation in NKCC1 may increase risk for schizophrenia via alterations of mRNA expression at the molecular level and impairment of optimal prefrontal function at the macro or systems level. 24695712 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE Together, these preclinical and clinical results suggest that variation in NKCC1 may increase risk for schizophrenia via alterations of mRNA expression at the molecular level and impairment of optimal prefrontal function at the macro or systems level. 24695712 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE We previously reported that SLC12A2-dependent GABA depolarization and DISC1 coregulate hippocampal neuronal development, and 2 SNPs in these genes linked to mRNA expression interactively increase schizophrenia risk. 23921125 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET This study shows that two SNPs in intergenic of the CTXN3 and SLC12A2 genes, rs245178 and rs698172, are associated with risk of schizophrenia in Thai population. 22643131 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE This study shows that two SNPs in intergenic of the CTXN3 and SLC12A2 genes, rs245178 and rs698172, are associated with risk of schizophrenia in Thai population. 22643131 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET Furthermore, DISC1 and NKCC1 interact epistatically to affect risk for schizophrenia in two independent case control studies. 22385968 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease BEFREE We examined the expression of transcripts derived from three genes related to GABA signaling [GAD1 (GAD67 and GAD25), SLC12A2 (NKCC1), and SLC12A5 (KCC2)] in the prefrontal cortex (PFC) and hippocampal formation of a large cohort of nonpsychiatric control human brains (n = 240) across the lifespan (from fetal week 14 to 80 years) and in patients with schizophrenia (n = 30-31), using quantitative RT-PCR. 21795557 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease BEFREE Altered expression of regulators of the cortical chloride transporters NKCC1 and KCC2 in schizophrenia. 20819979 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET To compare the levels of NKCC1, KCC2, OXSR1, STK39, WNK1, WNK3, and WNK4 transcripts in prefrontal cortex area 9 between subjects with schizophrenia and healthy comparison subjects. 20819979 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE An increased expression of NKCC1 and mutations of the gene have been associated with schizophrenia. 21237234 2011