SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE Additionally, publically available data indicate that rs3918242 genotype is related not to MMP9 expression, but rather to expression of SLC12A5, a nearby gene coding for a K+/Cl- cotransporter, whose expression has also been related to schizophrenia. 30668668 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 AlteredExpression disease BEFREE Recent advancements in next-generation sequencing and specific gene targeting, however, have indicated that loss of KCC2 activity is involved in a number of diseases including epilepsy and schizophrenia. 31240228 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease BEFREE KCC2 is a neuron specific K<sup>+</sup>-Cl<sup>-</sup> co-transporter that controls neuronal chloride homeostasis, and is critically involved in many neurological diseases including brain trauma, epilepsies, autism and schizophrenia. 29184062 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 AlteredExpression disease BEFREE Consistent with this, deficits in the activity of KCC2 lead to epilepsy and are also implicated in neurodevelopmental disorders, neuropathic pain, and schizophrenia. 29092909 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 AlteredExpression disease BEFREE Our data confirm the developmental regulation of KCC2 expression, and provide evidence that KCC2 transcripts are differentially expressed in schizophrenia and affective disorders. 22496567 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET Our data confirm the developmental regulation of KCC2 expression, and provide evidence that KCC2 transcripts are differentially expressed in schizophrenia and affective disorders. 22496567 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 AlteredExpression disease BEFREE In schizophrenia, increased expression levels, and possibly increased kinase activities, of OXSR1 and WNK3 may shift the balance of chloride transport by NKCC1 and KCC2 and alter the nature of γ-aminobutyric acid neurotransmission in the prefrontal cortex. 20819979 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET In the hippocampal formation, GAD25/GAD67 and NKCC1/KCC2 ratios are increased in patients with schizophrenia, reflecting a potentially immature GABA physiology. 21795557 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 Biomarker disease BEFREE In the hippocampal formation, GAD25/GAD67 and NKCC1/KCC2 ratios are increased in patients with schizophrenia, reflecting a potentially immature GABA physiology. 21795557 2011