| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. | 25557026 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). | 19128366 | 2009 |
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|
A | 0.800 | CausalMutation | CLINVAR | Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. | 16735499 | 2006 |
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|
A | 0.800 | CausalMutation | CLINVAR | High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. | 17526936 | 2006 |
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|
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 |
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|
A | 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 |
|||
|
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 |
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|
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 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in PROP1 cause familial combined pituitary hormone deficiency. | 9462743 | 1998 |
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|
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 |