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