SLC5A5, solute carrier family 5 member 5, 6528

N. diseases: 195; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 GermlineCausalMutation disease ORPHANET Genetic causes of congenital hypothyroidism due to dyshormonogenesis. 21543982 2011
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 Biomarker disease GENOMICS_ENGLAND Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 GeneticVariation disease UNIPROT Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 GeneticVariation disease UNIPROT Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 9745458 1998
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 CausalMutation disease CLINVAR
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 Biomarker disease CTD_human
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 GeneticVariation disease UNIPROT Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. 9486973 1998
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 Biomarker disease GENOMICS_ENGLAND Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. 16418213 2006
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 GeneticVariation disease UNIPROT A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 Biomarker disease GENOMICS_ENGLAND MicroRNAs let7 expression in thyroid cancer: correlation with their deputed targets HMGA2 and SLC5A5. 26960757 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE The goal of this study was to evaluate if the recently introduced PET radiotracer [<sup>18</sup>F]tetrafluoroborate ([<sup>18</sup>F]BF<sub>4</sub><sup>-</sup>) is useful for sensitive and specific metastasis detection in an orthotopic xenograft breast cancer model expressing the human sodium iodide symporter (NIS) as a reporter. 28424464 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE These data demonstrate selective induction of functional NIS in breast cancer by tRA. 14729653 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Therapeutic disease CTD_human The rat sodium iodide symporter gene permits more effective radioisotope concentration than the human sodium iodide symporter gene in human and rodent cancer cells. 12489024 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE These results indicate that the mammary gland sodium/iodide symporter may be an essential breast cancer marker and that radioiodide should be studied as a possible option in the diagnosis and treatment of breast cancer. 10932223 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE Retinoic acid induces sodium/iodide symporter gene expression and radioiodide uptake in the MCF-7 breast cancer cell line. 10890895 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE In vivo radioiodide imaging and treatment of breast cancer xenografts after MUC1-driven expression of the sodium iodide symporter. 15746050 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE In this study, using breast cancer cell lines, we established that tRA-responsive NIS expression is confined to estrogen receptor-alpha (ERalpha) positive cells and we investigated the role of ERalpha in the regulation of NIS expression. 16730657 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE Using quantitative real-time RT-PCR, we found that all 22 fresh human breast cancer samples had very low NIS expression similar to levels in untreated MCF-7 breast cancer cells. 12846418 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE Characterization and application of NIS as a novel therapeutic gene and the presence of high native NIS expression in the majority of breast cancers further suggest a promising role of NIS in diagnosis and therapy of cancer outside the thyroid gland. 12390328 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE Thus, this study shows the important role of mannosidase in N-glycosylation processing in order to correctly traffic NIS to the plasma membrane in breast cancer cells.This article has an associated First Person interview with the first author of the paper. 31455607 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE The sodium/iodide symporter (NIS) mediates iodide uptake in lactating breast tissue and is expressed in some breast cancers. 15817668 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE One is based on the reinduction of endogenous NIS expression in thyroid and breast cancer by targeting the main mechanisms involving tumoral transformation and dedifferentiation. 16990649 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE Since the sodium/iodide symporter (NIS) stimulates the iodine uptake in normal lactating breast, our study aimed to study the effect of NIS-mediated radioiodide therapy on ER-negative breast cancers. 25955347 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE Human breast cancer MDA-MB-231 cells transfected with the hNIS gene were injected subcutaneously into the right flanks of BALB/c nude mice. 22003972 2011