Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
0.460 Biomarker phenotype BEFREE Regulation of thyroid sodium-iodide symporter in different stages of goiter: Possible involvement of reactive oxygen species. 29112772 2018
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
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
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
0.460 GeneticVariation phenotype BEFREE Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. 20153805 2010
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
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
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
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
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
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
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
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
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
0.460 Biomarker phenotype HPO