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 		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
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		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