Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 Biomarker disease BEFREE The quadruplex-specific ligands TMPyP4 and PDS (Pyridostatin) can inhibit the interaction between G-quadruplexes and proteins. 30278241 2019
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE The most prevalent mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase (TPO) gene and c.919-2A>G in the Pendred syndrome (PDS) gene. 25455162 2015
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE The genetic testing showed that these twin patients were compound heterozygotes carrying the same two mutations in the Pendred's syndrome (PDS / SLC26A4) gene (c2168A > G and ins2110GCTGG), which confirmed the diagnoses of Pendred syndrome.They underwent thyroidectomy. 23459462 2013
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 GeneticVariation disease BEFREE A single Pendred syndrome (PDS) gene mutation, L445W, was found. 20822748 2010
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 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 Two common and three novel PDS mutations in Thai patients with Pendred syndrome. 18250610 2007
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. 17322586 2006
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 Biomarker disease BEFREE Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. 15863666 2005
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Recessive mutations of PDS gene are the common causes of Pendred syndrome and non-syndromic hearing loss associated with temporal bone abnormalities ranging from isolated enlargement of the vestibular aqueduct (EVA) to Mondini dysplasia. 15574297 2005
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 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 PDS is often associated with enlarged endolymphatic duct and sac (EEDS), and recently, PDS gene mutations have been reported even in those patients with EEDS without classic Pendred syndrome. 14972391 2004
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 AlteredExpression disease BEFREE Expression of the recently cloned Pendred syndrome gene SLC26A4 or PDS has been found to be decreased or even absent in various thyroid tumors. 12727855 2003
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 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 Mutations in the PDS gene and the consequent impaired function of pendrin leads to the classic phenotype of Pendred syndrome, i.e. dyshormonogenic goiter and congenital sensorineural hearing loss. 11919333 2002
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE The gene mutated in Pendred syndrome (PDS), the PDS gene, is expressed in the inner ear, kidney, and thyroid. 11932304 2002
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE A case of PS with huge goiter and congenital hearing impairment was diagnosed by mutational analysis of the PDS gene. 12112546 2002
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 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. 11375792 2001
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.100 GeneticVariation disease BEFREE Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. 11317356 2001