Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.400 Biomarker phenotype CLINGEN Using next-generation sequencing technology, we set up a multiple polymerase chain reaction enrichment system for target regions of EVA pathogenic genes (SLC26A4, FOXI1, and KCNJ10). 27997596 2016
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		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
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		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
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.400 Biomarker phenotype CLINGEN Expression of marker genes during early ear development in medaka. 16950663 2007
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.400 Biomarker phenotype CLINGEN This finding is consistent with our observation that EVA occurs in the Slc26a4(+/-); Foxi1(+/-) double-heterozygous mouse mutant. 17503324 2007
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.400 Biomarker phenotype CLINGEN Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. 15320950 2004
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.400 Biomarker phenotype CLINGEN Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. 12642503 2003
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.400 Biomarker phenotype CLINGEN Zebrafish foxi one modulates cellular responses to Fgf signaling required for the integrity of ear and jaw patterning. 12702667 2003
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 11932316 2002
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.400 Biomarker phenotype CLINGEN The winged helix transcription factor Fkh10 is required for normal development of the inner ear. 9843211 1998
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.400 Biomarker phenotype HPO
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.400 Biomarker phenotype HPO
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.400 Biomarker phenotype HPO
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.200 Biomarker phenotype MGD