Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C1384666
Disease: hearing impairment
hearing impairment 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007
dbSNP: rs121908362
rs121908362
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: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT A novel mutation in the pendrin gene associated with Pendred's syndrome. 10718825

2000
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792

2001
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 10878664

2000
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. 11919333

2002
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 14508505

2003
dbSNP: rs121908362
rs121908362
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: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		G 0.820 GeneticVariation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2001
dbSNP: rs121908362
rs121908362
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: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 15531480

2004
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1998
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. 12788906

2003
dbSNP: rs121908362
rs121908362
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 GeneticVariation UNIPROT 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
dbSNP: rs121908362
rs121908362
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: rs121908362
rs121908362
SLC26A4
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 GeneticVariation UNIPROT Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive. 20108392

2010