×
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
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