POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Congenital Hypothyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.320 Biomarker disease GENOMICS_ENGLAND Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? 16060904 2005
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.320 GeneticVariation disease BEFREE A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus. 11847467 2001
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.320 Biomarker disease BEFREE Fetomaternal Pit-1 deficiency resulted in unmitigated fetal hypothyroidism that unmasked thyroid hormone as a potent endogenous drive of fetal maturation and revealed placental transfer of maternal T4 as a rescue mechanism for infants with congenital hypothyroidism, preventing fetal and neonatal symptoms of thyroid deficiency and safeguarding developmental potential. 7593413 1995