| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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
|
0.800 | GeneticVariation | 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 | |||||
Pituitary Dwarfism Type 3
|
0.800 | GeneticVariation | CLINVAR | PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. | 16984240 | 2006 | |||||
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
|
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
|
0.800 | GeneticVariation | 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 | |||||
Pituitary Dwarfism Type 3
|
0.800 | GeneticVariation | 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 | |||||
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
|
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
|
0.800 | GeneticVariation | CLINVAR | """Hot spot"" in the PROP1 gene responsible for combined pituitary hormone deficiency." | 10323394 | 1999 | |||||
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 | |||||
Pituitary Dwarfism Type 3
|
0.800 | GeneticVariation | CLINVAR | Mutations in PROP1 cause familial combined pituitary hormone deficiency. | 9462743 | 1998 | |||||
Pituitary Dwarfism Type 3
|
0.800 | GeneticVariation | UNIPROT | Mutations in PROP1 cause familial combined pituitary hormone deficiency. | 9462743 | 1998 | |||||
Pituitary Dwarfism Type 3
|
0.800 | GeneticVariation | 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 | |||||
Pituitary Dwarfism Type 3
|
0.800 | CausalMutation | CLINVAR |