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 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 MGD Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit. 12618319 2003
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 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 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 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