SLC20A1, solute carrier family 20 member 1, 6574

N. diseases: 87; N. variants: 1
Disease: Severe hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271791
Disease: Severe hypothyroidism
Severe hypothyroidism 		0.010 GeneticVariation disease BEFREE We describe a newborn with clinical signs of severe hypothyroidism and combined pituitary hormone deficiency due to a new mutation in the PIT-1 gene. 11847467 2001