×
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