Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304

2017

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns. 27541434

2016

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566

2015

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. 24224479

2014

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. 25372295

2014

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. 24338212

2014

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 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

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2014

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. 23638949

2013

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. 21366435

2011

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. 19509082

2009

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
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: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 19786220

2009

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. 19017801

2008

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct. 17309986

2007

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 16283880

2005

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 GeneticVariation UNIPROT SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 15689455

2005

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings. 15811013

2005

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436

2004

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 GeneticVariation UNIPROT Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436

2004

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
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: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 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: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 GeneticVariation UNIPROT Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. 12788906

2003

dbSNP: rs111033220
rs111033220
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
T 0.800 CausalMutation CLINVAR Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003