Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. 9745452 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation. 15472175 2004
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 15941866 2005
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). 15963055 2005
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 19128366 2009
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. 26059845 2016
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Recombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X). 22111336 2011
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). 9768691 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 17526936 2006
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. 12153609 2002
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. 16131601 2005
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. 14614227 2003
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. 15472232 2004
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. 15126542 2004
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects. 22024773 2011
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 15531542 2004
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. 10634415 2000
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. 26608600 2016
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. 11549674 2001
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. 28734020 2017
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR """Hot spot"" in the PROP1 gene responsible for combined pituitary hormone deficiency." 10323394 1999
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 16735499 2006
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene. 20381582 2010
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Mutations in PROP1 cause familial combined pituitary hormone deficiency. 9462743 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR """Hot spot"" in the PROP1 gene responsible for combined pituitary hormone deficiency." 10323394 1999