| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | disease | BEFREE | Hypothyroidism-associated pendrin mutations almost always fall within 4/11 segments. | 29772533 | 2018 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Therefore, present study reports for the first time that the observed novel variants in pendrin gene might be linked with autoimmune negative hypothyroidism, without any characteristics of Pendred syndrome and/or congenital hypothyroidism. | 28718179 | 2017 | ||||
|
0.170 | Biomarker | disease | BEFREE | We propose using a combination of three parameters to define and diagnose PS: (i) sensorineural deafness with bilateral EVA; (ii) thyroid abnormality comprising goiter and/or hypothyroidism and/or a positive PDT; (iii) biallelic SLC26A4 mutations. | 24224479 | 2014 | ||||
|
0.170 | Biomarker | disease | BEFREE | Slc26a4 (-/-) and (+/+) mice were fed up to 6 months on a standard or low iodine diet and were evaluated for thyroid structural abnormalities or biochemical hypothyroidism. | 20834201 | 2011 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | We describe a 46-year-old female with sensorineural deafness and hypothyroidism, who presented with severe hypokalaemic metabolic alkalosis during inter-current illnesses on two occasions, and who was found to be homozygous for a loss-of-function mutation (V138F) in SLC26A4. | 21551164 | 2011 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Chloride uptake studies were made using HEK293-Phoenix cells expressing human wild type SLC26A4 (pendrin) and a mutant (SLC26A4(S28R)) we recently described in a patient with hypothyroidism, goiter and sensorineural hearing loss. | 16791000 | 2006 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | All patients harbouring mutations in the SLC26A4 gene had goiter and a positive perchlorate discharge test: 3 were slightly hypothyroid and 2 euthyroid. | 15279074 | 2004 | ||||
|
0.170 | Biomarker | disease | HPO |