SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.160 GeneticVariation disease BEFREE SLC5A8 and SLC26A4 genes are both involved in the iodine metabolism, and SLC5A8 hypermethylation status is associated with the BRAF(V600E) mutation, which is the most frequent genetic event underlying the development of papillary TC. 23931930 2013
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.160 GeneticVariation disease BEFREE BRAF(V600E) mutation, in both primary and metastatic thyroid cancers, is associated with a marked drop in thyroperoxidase (29-fold) and pendrin (20-fold) expression and a considerable increase (five-fold) in GLUT-1 expression. 17854396 2008
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.160 AlteredExpression disease BEFREE Qualitative analysis of baseline and stimulated TG, NIS and PDS mRNA showed high sensitivity but low specificity in the prediction of thyroid cancer recurrence or metastases (accuracy under THST = 51%, 43% and 54%, respectively), whereas TPO and TSHR mRNA assays had higher specificity but low sensitivity, with accuracy under THST of 67% and 61%, respectively, that improved when these tests were combined. 15170676 2004
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.160 AlteredExpression disease BEFREE The increased NIS expression and reduced PDS expression may make radioiodine therapy more effective in patients with thyroid cancer, especially when the tumors have no or low uptake of radioiodine. 12490845 2002
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.160 AlteredExpression disease BEFREE Expression pattern of the pendrin and sodium/iodide symporter genes in human thyroid carcinoma cell lines and human thyroid tumors. 11454507 2001
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.160 AlteredExpression disease BEFREE In conclusion, our study demonstrates that pendrin is located at the apical membrane of thyrocytes and that PDS gene expression is decreased in thyroid carcinomas. 10843192 2000
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.160 Biomarker disease HPO