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 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 A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. 10487695 1999
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 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: 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 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 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 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 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: 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: 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 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 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 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 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 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 caused by a mutation in the Na+/I- symporter. 9171822 1997
dbSNP: rs121909174
rs121909174
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121909176
rs121909176
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909178
rs121909178
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121909179
rs121909179
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909180
rs121909180
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
CUI: C1848805
Disease:
Thyroid Dyshormonogenesis 1 		A 0.800 CausalMutation CLINVAR