SLC5A5, solute carrier family 5 member 5, 6528

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