Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Molecular analysis of the PDS gene is useful to make a definite diagnosis in familial and sporadic cases with Pendred's syndrome, and will be helpful for determining the true prevalence of this disorder. 10037079 1999
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Finally, we identified mutations in the PDS gene in 5 of 10 patients with PS. 16275403 2006
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Expression of mRNAs from thyroglobulin (Tg), TSH receptor (TSHR), thyroid peroxidase (TPO), sodium/iodide symporter (NIS), and the Pendred's syndrome (PDS) genes were analyzed by quantitative reverse transcription-polymerase chain reaction. 18187871 2008
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE The PDS gene (7q31), responsible for Pendred syndrome (congenital sensorineural hearing loss and goiter), encodes a transmembrane protein known as pendrin. 12727986 2003
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE 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
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Mutations in PDS (or SLC26A4) cause both Pendred syndrome (PS) and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. 23246836 2013
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 Biomarker disease BEFREE The PDS gene (SLC26A4) is responsible for Pendred syndrome (PS). 21035230 2011
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 AlteredExpression disease BEFREE Consistent with the Pendred's syndrome phenotype, which is characterized by thyroid dysfunction associated to deafness, PDS expression has been demonstrated in the thyroid and in the inner ear. 11573133 2001
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. 10874637 1999
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE It is caused by mutations in the Pendred's syndrome (PDS) gene that encodes pendrin, a chloride/iodide transporter expressed in the thyroid, the inner ear, and the kidney. 16053392 2005
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Mutations in the PDS gene encoding pendrin protein have been shown to be associated with PDS. 21274344 2010
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Twelve patients (three females and nine males aged 7-47 years) with Pendred syndrome (all from the same ethnic isolate and with the same mutation in the PDS gene) were evaluated for inner-ear malformation at thin-section CT.Both ears were evaluated. 15758191 2005
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE We investigated the PDS gene of six affected individuals from four unrelated families with Pendred's syndrome by direct sequencing. 12788906 2003
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Sequence analysis of the PDS gene performed with DNA from the two relatives with Pendred's syndrome revealed the presence of a deletion of thymidine 279 in exon 3, a point mutation that results in a frameshift and a premature stop codon at codon 96 in the pendrin molecule. 11716048 2001