rs121917843, PROP1

N. diseases: 3
Disease: Pituitary Dwarfism Type 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 CausalMutation CLINVAR Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. 25557026 2015
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 GeneticVariation UNIPROT Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). 19128366 2009
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 CausalMutation CLINVAR Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. 16735499 2006
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 CausalMutation CLINVAR High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. 17526936 2006
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 GeneticVariation UNIPROT A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 15531542 2004
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 CausalMutation CLINVAR A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies. 15531542 2004
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 GeneticVariation 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
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 GeneticVariation 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
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 GeneticVariation UNIPROT Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 10946881 2000
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 GeneticVariation UNIPROT Mutations in PROP1 cause familial combined pituitary hormone deficiency. 9462743 1998
Pituitary Dwarfism Type 3
CUI: C0878683
Disease: Pituitary Dwarfism Type 3
0.800 GeneticVariation 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