SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. 12974744 2003
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 11317356 2001
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854 2001
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792 2001
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Clinical and molecular analysis of three Mexican families with Pendred's syndrome. 11375792 2001
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 11317356 2001
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116 2000
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT A novel mutation in the pendrin gene associated with Pendred's syndrome. 10718825 2000
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116 2000
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT A novel mutation in the pendrin gene associated with Pendred's syndrome. 10718825 2000
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166 1998
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Molecular analysis of the PDS gene in Pendred syndrome. 9618167 1998
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		G 0.820 CausalMutation CLINVAR Two frequent missense mutations in Pendred syndrome. 9618166 1998
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Molecular analysis of the PDS gene in Pendred syndrome. 9618167 1998
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Two frequent missense mutations in Pendred syndrome. 9618166 1998
dbSNP: rs111033307
rs111033307
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 9398842 1997
dbSNP: rs121908362
rs121908362
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease:
Pendred's syndrome 		0.820 GeneticVariation UNIPROT Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). 9398842 1997