Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance. 31640787 2019
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease BEFREE A number of studies have shown that mutations in <i>KCNJ10</i> are associated with SeSAME/EAST syndrome, which is characterized by seizures, ataxia, sensorineural deafness, and electrolyte imbalance. 31781151 2019
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. 29722015 2019
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease BEFREE Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome. 29476442 2018
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE The present cases harboring novel homozygous frameshift mutations in KCNJ10 expand the spectrum of brain abnormalities in EAST syndrome, including mild cerebellar atrophy and intramyelinic edema, resulting from abnormal function of the Kir4.1 inwardly rectifying potassium channel at the astrocyte endfeet, with disruption of water-ion homeostasis. 29666984 2018
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease BEFREE To better understand the role of the inward-rectifying K channel Kir4.1 (KCNJ10) in the distal nephron, we initially studied a global Kir4.1 knockout mouse (gKO), which demonstrated the hypokalemia and hypomagnesemia seen in SeSAME/EAST syndrome and was associated with reduced Na/Cl cotransporter (NCC) expression. 30110571 2018
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE We could rescue the morphant phenotype with complementary RNA (cRNA) encoding human wild-type KCNJ10, but not with cRNA encoding a KCNJ10 mutation identified in individuals with EAST syndrome. 23471908 2013
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. 23924083 2013
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Patients diagnosed clinically with EAST syndrome were genotyped and mutations in KCNJ10 were studied functionally. 24193250 2013
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the K(+) channel KCNJ10 (Kir4.1) cause an autosomal recessive syndrome featuring seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME). 22907601 2012
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		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
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10. 21849804 2011
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		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
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		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
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10. 21849804 2011
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease BEFREE Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome. 21088294 2010
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). 20807765 2010
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		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
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GermlineCausalMutation disease ORPHANET Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease MGD Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. 19420365 2009
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease BEFREE Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy. 19420365 2009
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009