SLC5A5, solute carrier family 5 member 5, 6528

N. diseases: 195; N. variants: 8
Disease: Iodide transport defect ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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