rs137853069, KCNJ10

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SeSAME syndrome
CUI: C2748572
Disease: SeSAME syndrome
0.800 GeneticVariation UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
SeSAME syndrome
CUI: C2748572
Disease: SeSAME syndrome
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
SeSAME syndrome
CUI: C2748572
Disease: SeSAME syndrome
0.800 GeneticVariation UNIPROT Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 19420365 2009
SeSAME syndrome
CUI: C2748572
Disease: SeSAME syndrome
0.800 GeneticVariation UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
SeSAME syndrome
CUI: C2748572
Disease: SeSAME syndrome
0.800 CausalMutation CLINVAR