SLC5A5, solute carrier family 5 member 5, 6528

N. diseases: 195; N. variants: 8
Disease: Thyroid Dyshormonogenesis 1 ×
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