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 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 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 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 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 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 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 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 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 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 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 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 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 CausalMutation disease CLINVAR Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. 10084575 1999
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 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 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 CLINVAR Mutations in PROP1 cause familial combined pituitary hormone deficiency. 9462743 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation 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 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 UNIPROT Mutations in PROP1 cause familial combined pituitary hormone deficiency. 9462743 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 CausalMutation disease CLINVAR A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. 11081182 1998
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		0.700 Biomarker disease CTD_human