Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. 25788563

2015
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss (V480D, V653A and I490L/G497S). 10861298

2000
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. 15679828

2005
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation 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
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989

2006
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		A 0.700 CausalMutation CLINVAR Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. 25373420

2014
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. 24051746

2013
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. 10700480

2000
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). 10861298

2000
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. 29546359

2018
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. 28964290

2017
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. 10190331

1999
dbSNP: rs111033308
rs111033308
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		A 0.800 GeneticVariation CLINVAR A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998