Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 Biomarker disease BEFREE Recently, a role for gain-of-function (GoF) mutations of the astrocytic potassium channel Kir4.1 (KCNJ10 gene) has been proposed in subjects with Autism-Epilepsy phenotype (AEP). 31722434 2019
CUI: C0393519
Disease: Cerebellar Ataxia, Early Onset
Cerebellar Ataxia, Early Onset 		0.010 GeneticVariation disease BEFREE Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia. 29476442 2018
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.010 AlteredExpression phenotype BEFREE The present study demonstrated that H3K9me2 and G9a are sensitive to epileptic seizure activity during the acute phase of epilepsy and can affect the transcriptional regulation of the Kcnj10 channel. 29115470 2018
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 GeneticVariation disease BEFREE This study indicates that genetic variations in KCNJ10 and AQP4 may be predisposing factors for SIDS. 28520217 2017
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.010 GeneticVariation disease BEFREE There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015). 25008907 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. 22412181 2012
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.010 AlteredExpression disease BEFREE We investigated Kir4.1 (Kcnj10) and IL-1β mRNA expression in the temporal cortex in a rat model of temporal lobe epilepsy 24 h and 1 week after induction of status epilepticus (SE), using real-time PCR and western blot analysis. 23270518 2012
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. 22412181 2012
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.010 GeneticVariation disease BEFREE The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, ataxia, sensorineural deafness, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis. 21633011 2011
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		0.010 GeneticVariation disease BEFREE The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, ataxia, sensorineural deafness, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis. 21633011 2011
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		0.010 GeneticVariation disease BEFREE Intriguingly, the metabolic alkalosis present in patients carrying the R65P mutation possibly improves residual function of KCNJ10, which shows higher activity at alkaline pH. 20651251 2010
CUI: C1853666
Disease: Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 2 		0.010 GeneticVariation disease BEFREE The purpose of the present study was to determine whether there are differences in Kir channel activity and potassium- and glutamate-buffering capabilities between astrocytes from seizure resistant C57BL/6 (B6) and seizure susceptible DBA/2 (D2) mice that are consistent with an altered K(+) channel activity as a result of genetic polymorphism of KCNJ10. 20831751 2010
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness 		0.010 Biomarker disease BEFREE Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct. 20621367 2010
CUI: C0011175
Disease: Dehydration
Dehydration 		0.010 GeneticVariation phenotype BEFREE Mice with Kcnj10 deletions became dehydrated, with definitive evidence of renal salt wasting. 19420365 2009
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.010 Biomarker disease BEFREE Rodent models for genetically complex epilepsy have been studied for many years, but only recently have strong candidate genes emerged, including Cacna1 g in the GAERS rat model of absence epilepsy and Kcnj10 in the low seizure threshold of DBA/2 mice. 19665252 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.010 GeneticVariation disease BEFREE Here, we show that mutations in the inwardly rectifying K(+) channel gene KCNJ10 are associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with an EVA/PS phenotype. 19426954 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE We conclude that these variants in KCNJ10 are unlikely to be the cause of linkage of type 2 diabetes with 1q in Pima Indians. 12401729 2002
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.020 GeneticVariation disease BEFREE Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. 29666984 2018
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.020 GeneticVariation disease BEFREE Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies. 25874548 2015
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.020 GeneticVariation disease BEFREE There were significant associations between the G/T genotype of KCNJ10 gene rs2486253 polymorphism in the idiopathic generalized epilepsy group (P = .037) and in subjects with generalized tonic-clonic seizures (P = .0015). 25008907 2015
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.020 AlteredExpression disease BEFREE We investigated Kir4.1 (Kcnj10) and IL-1β mRNA expression in the temporal cortex in a rat model of temporal lobe epilepsy 24 h and 1 week after induction of status epilepticus (SE), using real-time PCR and western blot analysis. 23270518 2012
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.020 GeneticVariation disease BEFREE The current study was designed to identify variants of the AQP4 and KCNJ10 genes associated with TLE and subgroups of this condition. 19864112 2010
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.020 Biomarker disease BEFREE SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, sensorineural deafness, ataxia, and developmental abnormalities. 21088294 2010
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		0.020 GeneticVariation disease BEFREE Association analysis of the human KCNJ10 gene identified a common KCNJ10 missense variation (Arg271Cys) that influences susceptibility to focal and generalized epilepsies. 15725393 2005
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.020 GeneticVariation disease BEFREE The present replication study tested the initial finding that the KCNJ10 Cys271 allele is associated with seizure resistance to common syndromes of idiopathic generalized epilepsy (IGE). 15725393 2005