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 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 GeneticVariation disease UNIPROT Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 19128366 2009
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 GeneticVariation disease UNIPROT 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 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 GeneticVariation disease UNIPROT PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. 11549703 2001
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease UNIPROT 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 UNIPROT Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay. 12519826 2003
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 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 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
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease UNIPROT Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 10946881 2000
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. 9824293 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease CLINVAR The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. 17526949 2006
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation disease UNIPROT Mutations in PROP1 cause familial combined pituitary hormone deficiency. 9462743 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 GeneticVariation 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 GeneticVariation disease CLINVAR Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. 21132537 2011