Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis. 26683941

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. 25999548

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR "Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and ""apparent"" thyroid dysgenesis." 24248179

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. 25373420

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. 24338212

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum. 24612839

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. 24105851

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. 24105851

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II. 25468468

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss. 25149764

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families. 24913939

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness. 25015771

2014