Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease CLINVAR
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 CausalMutation disease CLINVAR
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease CTD_human
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease GENOMICS_ENGLAND Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1. 9367690 1997
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease MGD Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina. 10908613 2000
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease MGD Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. 11466414 2001
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease MGD KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. 11788352 2002
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease MGD Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit. 12618319 2003
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GermlineCausalMutation disease ORPHANET Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease BEFREE Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease MGD Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. 19420365 2009
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease BEFREE Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. 19420365 2009
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease UNIPROT Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. 19420365 2009
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B 		0.010 GeneticVariation disease BEFREE The molecular mechanism by which gamma-Na(+)/K(+)-ATPase is involved in DCT Mg(2+) handling remains unknown; (v) a high percentage of patients with mutations in the renal transcription factor HNF1B (hepatocyte nuclear factor 1 homeobox B) gene develop hypomagnesemia; and (vi) Gitelman and EAST/SeSAME syndrome patients suffer from a similar tubulopathy due to mutations in NCC (NaCl cotransporter) and Kir4.1, respectively. 19812536 2010
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease BEFREE We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. 20651251 2010
Entrez Id: 3773
Gene Symbol: KCNJ16
KCNJ16 		0.020 GeneticVariation disease BEFREE We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. 20651251 2010
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease BEFREE Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). 20807765 2010
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease BEFREE Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome. 21088294 2010
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 Biomarker disease BEFREE This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule. 21221631 2011
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease BEFREE We have studied the impact of KCNJ10 mutations on the human electroretinogram (ERG) in four unrelated patients with EAST syndrome. 21300747 2011
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 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
Entrez Id: 3773
Gene Symbol: KCNJ16
KCNJ16 		0.020 Biomarker disease BEFREE In conclusion, disruption of Kcnj16 induces a severe renal phenotype that, apart from hypokalemia, is the opposite of the phenotype seen in SeSAME/EAST syndrome. 21633011 2011
Entrez Id: 3749
Gene Symbol: KCNC4
KCNC4 		0.010 Biomarker disease BEFREE Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome. 21633011 2011
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		1.000 GeneticVariation disease BEFREE Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10. 21849804 2011