Disease: SeSAME syndrome ×
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 CLINVAR
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease CTD_human
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 GeneticVariation disease UNIPROT 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 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 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
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 MGD Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina. 10908613 2000
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 MGD KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. 11788352 2002
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease MGD Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. 11466414 2001
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 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 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 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 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 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 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 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 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 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