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 GermlineCausalMutation ORPHANET

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. 8541853

1996

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation BEFREE Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. 8630497

1996

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. 8630498

1996

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation BEFREE Pendred syndrome is inherited as an autosomal recessive trait and has recently been mapped to 7q31 coincident with the non-syndromic deafness locus DFNB4. 9039988

1997

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a region that also contains a gene responsible for nonsyndromal hearing loss (DFNB4). 9070918

1997

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation BEFREE The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a region that also contains a gene responsible for nonsyndromal hearing loss (DFNB4). 9070918

1997

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation BEFREE These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease. 9398842

1997

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation CLINVAR These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease. 9398842

1997

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation UNIPROT These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease. 9398842

1997

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease. 9398842

1997

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation CLINVAR A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR A mutation in PDS causes non-syndromic recessive deafness. 9500541

1998

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. 9604973

1998

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation UNIPROT The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome. 9618166

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation CLINVAR The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome. 9618166

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation BEFREE The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome. 9618166

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome. 9618166

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation UNIPROT Whilst these findings demonstrate molecular heterogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the PDS gene in the assessment of families with congenital hearing loss. 9618167

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation UNIPROT The PDS gene has been identified by positional cloning of chromosome 7q31, within the Pendred syndrome critical linkage interval and encodes for a putative ion transporter called pendrin. 9618167

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR Moreover, four recurrent mutations accounted for 35 (74%) of PDS disease chromosomes detected and haplotype analysis would favour common founders rather than mutational hotspots within the PDS gene. 9618167

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR The PDS gene has been identified by positional cloning of chromosome 7q31, within the Pendred syndrome critical linkage interval and encodes for a putative ion transporter called pendrin. 9618167

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation CLINVAR Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 CausalMutation CLINVAR Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1999

Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
1.000 GeneticVariation UNIPROT Molecular analysis of the PDS gene in Pendred syndrome. 9618167

1999