POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Disease: Pituitary dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.450 GeneticVariation disease BEFREE Overall, this study unveils the involvement of POU1F1 in dominantly inherited isolated GH deficiency and demonstrates a significant impact of the Pro76Leu mutation on DNA-binding activities, alterations in transactivating functions and interactions with cofactors. 26612202 2016
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.450 Biomarker disease BEFREE 80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3. 25557026 2015
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.450 GeneticVariation disease BEFREE We have now screened 129 individuals with CPHD and isolated GH deficiency for mutations within POU1F1. 15928241 2005
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.450 GeneticVariation disease BEFREE Children with Pit 1 mutations and delayed onset of hypothyroidism may be initially diagnosed as isolated GH deficiency. 9588494 1998
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.450 Biomarker disease CTD_human Pituitary dwarfism in the R271W Pit-1 gene mutation. 9392392 1997
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.450 GeneticVariation disease BEFREE Pituitary dwarfism in the R271W Pit-1 gene mutation. 9392392 1997
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.450 Biomarker disease HPO