Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 Biomarker disease CTD_human
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.600 Biomarker disease CTD_human
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.600 CausalMutation disease CLINVAR
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.600 Biomarker disease CTD_human
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.600 CausalMutation disease CLINVAR
Entrez Id: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863 2007
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease UNIPROT A mutation in PDS causes non-syndromic recessive deafness. 9500541 1998
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR A mutation in PDS causes non-syndromic recessive deafness. 9500541 1998
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 CausalMutation disease CLINVAR A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 18285825 2008
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss. 30077349 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. 20583162 2010
Entrez Id: 5973
Gene Symbol: RENBP
RENBP 		0.010 Biomarker disease BEFREE A total of 80 patients (44 men and 36 women; average age, 39.4 years) with sporadic cavernoma were retrospectively analyzed by considering the patient characteristics, including sex, age, target volume, radiation dose, clinical symptoms, cavernoma location, radiosurgery complications, and morphology of DVA. 30026166 2018
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.600 Biomarker disease GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 26763877 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760 2013
Entrez Id: 5012
Gene Symbol: OTSC1
OTSC1 		0.010 GeneticVariation disease BEFREE An etiologic diagnosis was achieved in 6 patients: cochlear otosclerosis, 1 case; dilated vestibular aqueduct, 1 case; a mitochondrial DNA 7445A>G mutation, 3 cases; and a mitochondrial DNA 1555A>G mutation, 1 case. 15944560 2005
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 CausalMutation disease CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479 2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479 2014
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. 17851929 2007
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs. 30484383 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. 25266519 2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137 2016