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
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 GeneticVariation disease CLINVAR Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. 19426954 2009
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 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: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 CausalMutation disease CLINVAR
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 Biomarker disease CTD_human
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. 19426954 2009
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. 17959752 2008
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype CLINGEN Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. 15320950 2004
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype HPO
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 GeneticVariation disease BEFREE Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 23965030 2013
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 GeneticVariation disease BEFREE We also used this approach to scan for mutations in KCNJ10 and FOXI1, two genes reported to play a role in the pathogenesis of Pendred syndrome and enlarged vestibular aqueduct. 21366435 2011
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 Biomarker disease BEFREE Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct. 20621367 2010
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 GeneticVariation disease BEFREE Our results link KCNJ10 mutations with EVA/PS and provide further support for the model of EVA/PS as a multigenic complex disease. 19426954 2009
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE No association between the KCNH1, KCNJ10 and KCNN3 genes and schizophrenia in the Han Chinese population. 20933057 2011
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.300 Biomarker disease RGD Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. 23827367 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.300 Biomarker disease CTD_human Enhanced accumulation of Kir4.1 protein, but not mRNA, in a murine model of cuprizone-induced demyelination. 24070676 2013