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 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 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 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 GeneticVariation disease UNIPROT A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
CUI: C0018021
Disease: Goiter
Goiter 		0.460 GeneticVariation phenotype BEFREE Iodide transport defect (ITD) is an infrequent condition associated with congenital dyshormonogenetic goiter due to mutations in the Na(+)/I(-) symporter (NIS) gene transmitted in an autosomal recessive manner. 21054210 2010
CUI: C0018021
Disease: Goiter
Goiter 		0.460 GeneticVariation phenotype BEFREE Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. 20153805 2010
CUI: C0018021
Disease: Goiter
Goiter 		0.460 GeneticVariation phenotype BEFREE Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members. 19916865 2009
CUI: C0018021
Disease: Goiter
Goiter 		0.460 GeneticVariation phenotype LHGDN Biallelic mutations in the NIS gene lead to a congenital iodide transport defect, an autosomal recessive condition characterized by hypothyroidism, goiter, low thyroid iodide uptake, and a low saliva/plasma iodide ratio. 19196800 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Oncolytic MV-Edm derivatives are genetically engineered to express the human carcinoembryonic antigen (MV-CEA virus) or the human sodium iodide symporter (MV-NIS virus) and are currently being tested in clinical trials against ovarian cancer, glioblastoma multiforme, multiple myeloma, mesothelioma, head and neck cancer, breast cancer and malignant peripheral nerve sheath tumors. 28228086 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 GeneticVariation group BEFREE Transfer of the sodium iodide symporter (hNIS) has been proposed as a new principle of cancer gene therapy. 12704416 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.400 GeneticVariation group BEFREE Although transduction of the hNIS gene induces iodide transport in rat prostate adenocarcinoma a rapid efflux occurs, which leads to a low absorbed dose in genetically modified tumors. 12704416 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.400 GeneticVariation group BEFREE The NGS data revealed the coexisting of a well-characterized loss-of-function TP53 R248Q mutation and a putative gain-of-function mutation of TSHR L272V, which was suggested by the overexpression of thyroglobulin and SLC5A5 (NIS) genes in this tumor. 26260781 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.400 GeneticVariation group BEFREE Therapy studies have been performed on several tumor xenograft models with various radionuclides using the NIS radiotargeted gene therapy approach. 15653667 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.400 GeneticVariation group BEFREE In vivo imaging and tumor therapy with the sodium iodide symporter. 14635183 2003
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.400 GeneticVariation disease BEFREE Thus, in this study we investigated whether the methylation of the CpG-island located in the NIS gene promoter was associated with reduced mRNA expression in thyroid tumors. 22945693 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.400 GeneticVariation disease BEFREE The BRAF(V600E) mutation is present in 62% of radioactive iodine-resistant thyroid tumors and is associated with downregulation of the sodium-iodide symporter (NIS) and thyroid stimulating hormone receptor (TSHr). 22998776 2013
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.400 GeneticVariation disease BEFREE Apart from these therapeutic and diagnostic perspectives the availability of the NIS gene will also open new opportunities to develop sensitive and homologous diagnostic test systems to identify factors involved in autoimmune thyroid disease, evolution of goitre, adenoma and thyroid cancer as well as NIS-directed new drugs. 9865544 1998
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.400 GeneticVariation disease BEFREE Expression of the Na+/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes. 10487692 1999
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.400 GeneticVariation disease LHGDN BRAFV600E mutation, but not RET/PTC rearrangements, is correlated with a lower expression of both thyroperoxidase and sodium iodide symporter genes in papillary thyroid cancer. 18509003 2008
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.400 GeneticVariation disease BEFREE Our findings not only reveal an epigenetic mechanism for BRAF V600E-promoted NIS silencing involving histone deacetylation at critical regulatory regions of the NIS promoter but also provide further support for our previously proposed combination therapy targeting major signaling pathways and histone deacetylase to restore thyroid gene expression for radioiodine treatment of thyroid cancer. 24243688 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.400 GeneticVariation disease BEFREE These targets include the proto-oncogenes BRAF and RET, known to be common mutations in thyroid cancer; vascular endothelial growth factor receptor and platelet-derived growth factor receptor, associated with angiogenesis; and the sodium-iodide symporter, with the aim of restoring its expression and hence radioactive iodine uptake. 20142332 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 GeneticVariation disease BEFREE Targeted radiotherapy for prostate cancer with an oncolytic adenovirus coding for human sodium iodide symporter. 19706820 2009
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.400 GeneticVariation disease BEFREE In principle, undifferentiated thyroid cancers as well as nonthyroid cancers can concentrate and, thus, be treated with radioiodine after transfection with the human sodium iodide symporter (hNIS) gene. 21797672 2011
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.400 GeneticVariation disease BEFREE Expression of the Na+/I- symporter (NIS) gene was investigated by RT-PCR in a selected series of 26 primary thyroid carcinomas (19 papillary, 5 follicular, and 2 anaplastic). 9661633 1998
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.400 GeneticVariation disease BEFREE Absence of sodium/iodide symporter gene mutations in differentiated human thyroid carcinomas. 11272095 2001