SLC5A5, solute carrier family 5 member 5, 6528

N. diseases: 195; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation 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
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 9745458 1998
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
dbSNP: rs121909176
rs121909176
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 9745458 1998
dbSNP: rs121909176
rs121909176
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
dbSNP: rs121909176
rs121909176
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
dbSNP: rs121909176
rs121909176
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation 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
dbSNP: rs121909178
rs121909178
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
dbSNP: rs121909178
rs121909178
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 9745458 1998
dbSNP: rs121909178
rs121909178
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation 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
dbSNP: rs121909178
rs121909178
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
dbSNP: rs121909179
rs121909179
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
dbSNP: rs121909179
rs121909179
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation 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
dbSNP: rs121909179
rs121909179
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 9745458 1998
dbSNP: rs121909179
rs121909179
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
dbSNP: rs121909180
rs121909180
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
dbSNP: rs121909180
rs121909180
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients. 9745458 1998
dbSNP: rs121909180
rs121909180
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation UNIPROT Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. 9171822 1997
dbSNP: rs121909180
rs121909180
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		0.800 GeneticVariation 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
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C0271826
Disease:
Iodide transport defect 		0.020 GeneticVariation BEFREE All families with ITD harbored the mutation, suggesting that T354P is a recurrent mutation and a major cause of ITD. 9709973 1998
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C0271826
Disease:
Iodide transport defect 		0.020 GeneticVariation BEFREE We recently reported three siblings with iodide transport defect harboring the T354P mutation in the heterozygous state. 10907989 2000
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C0596263
Disease:
Carcinogenesis 		0.010 GeneticVariation BEFREE Because two cases with homozygous T354P mutation developed multinodular goiters within their second decade of life though they had been maintained in euthyroid state, homozygous T354P mutation alone and/or low intrathyroidal iodide and high serum TSH level in early life might account for tumorigenesis. 9709973 1998
dbSNP: rs121909175
rs121909175
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE While the homozygous mutant NIS-272X causes congenital hypothyroidism, expression of one normal allele in the heterozygote (C272X) is sufficient to maintain active thyroidal I- uptake and function. 9388506 1997
dbSNP: rs200597118
rs200597118
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C0271826
Disease:
Iodide transport defect 		0.010 GeneticVariation BEFREE We identified a new NIS mutation, R124H, in a newborn with the complete clinical ITD phenotype. 16418213 2006