POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Congenital defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220810
Disease: Congenital defects
Congenital defects 		0.010 GeneticVariation group BEFREE Mutations in PIT-1 cause congenital defects in GH and PRL secretion and severe TSH insufficiency. 28245453 2017