rs104893762, POU1F1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. 26612202 2016
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. 22010633 2012
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. 16968807 2006
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. 15928241 2005
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene. 11297581 2001
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation 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
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. 9485179 1998
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. 8768831 1996
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT "A ""hot spot"" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates." 7852536 1995
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. 1509262 1992
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. 1509263 1992
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 GeneticVariation UNIPROT Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. 1472057 1992
Pituitary Hormone Deficiency, Combined, 1
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
0.800 CausalMutation CLINVAR