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 Biomarker disease GENOMICS_ENGLAND MicroRNAs let7 expression in thyroid cancer: correlation with their deputed targets HMGA2 and SLC5A5. 26960757 2016
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 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
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 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 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 CausalMutation disease CLINVAR
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
0.700 Biomarker disease CTD_human
CUI: C0018021
Disease: Goiter
Goiter
0.460 Biomarker phenotype BEFREE Regulation of thyroid sodium-iodide symporter in different stages of goiter: Possible involvement of reactive oxygen species. 29112772 2018
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: C0018021
Disease: Goiter
Goiter
0.460 Biomarker phenotype 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: C0018021
Disease: Goiter
Goiter
0.460 Biomarker phenotype 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: C0018021
Disease: Goiter
Goiter
0.460 Biomarker phenotype HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE The advent of NIS-based <i>in vivo</i> imaging and theranostic strategies in other malignancies and disease modalities has recently increased the clinical importance of NIS. 31672844 2020
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 AlteredExpression disease BEFREE In an in vivo orthotopic model, the enhancement of miR-875-5p led to the reduction of NIS expression and radioiodine uptake in the thyroid tumors. 31612419 2020
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.400 Biomarker disease BEFREE NIS has been exploited for over 75 years in ablative radioiodine (RAI) treatment of thyroid cancer, where its ability to transport radioisotopes depends on its localization to the plasma membrane. 31672844 2020
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.400 Biomarker disease BEFREE NIS has been exploited for over 75 years in ablative radioiodine (RAI) treatment of thyroid cancer, where its ability to transport radioisotopes depends on its localization to the plasma membrane. 31672844 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 Biomarker disease BEFREE A retrospective database analysis using the NIS was performed between 2010 and 2013 including adult patients with a primary diagnosis of HCC determined by ICD-9 codes. 31040093 2020
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