POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. 26612202 2016
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. 22010633 2012
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. 16968807 2006
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. 15928241 2005
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 Biomarker disease GENOMICS_ENGLAND Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? 16060904 2005
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GermlineCausalMutation disease ORPHANET Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. 15670191 2005
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene. 11297581 2001
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. 9485179 1998
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency. 9626142 1998
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. 8768831 1996
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 Biomarker disease GENOMICS_ENGLAND A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. 8768831 1996
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT "A ""hot spot"" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates." 7852536 1995
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. 1509262 1992
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. 1472057 1992
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease UNIPROT Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. 1509263 1992
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 Biomarker disease CTD_human
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 CausalMutation disease CLINVAR
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		0.700 GeneticVariation disease CLINVAR
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