Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 GeneticVariation disease UNIPROT Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. 16968807 2006
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 GeneticVariation disease UNIPROT Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. 15928241 2005
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 Biomarker disease GENOMICS_ENGLAND Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? 16060904 2005
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 GeneticVariation disease UNIPROT Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. 9485179 1998
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		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
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 GeneticVariation disease UNIPROT A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. 1509262 1992
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 GeneticVariation disease UNIPROT Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. 1472057 1992
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 GeneticVariation disease UNIPROT Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. 1509263 1992
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 Biomarker disease CTD_human
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		0.400 GermlineCausalMutation disease ORPHANET A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. 14561704 2003
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 89884
Gene Symbol: LHX4
LHX4 		0.300 GermlineCausalMutation disease ORPHANET Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation. 25871839 2015
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.300 GermlineCausalMutation disease ORPHANET Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856 2010
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.300 GermlineCausalMutation disease ORPHANET A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160 2008
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in PROP1 cause familial combined pituitary hormone deficiency. 9462743 1998