Gene: PROP1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917839
rs121917839
PROP1
0.020 GeneticVariation BEFREE 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
dbSNP: rs121917839
rs121917839
PROP1
0.020 GeneticVariation BEFREE A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. 12153609

2002
dbSNP: rs121917843
rs121917843
PROP1
0.010 GeneticVariation BEFREE The p.R73C PROP1 mutation was the most frequent mutation in CPHD; this should be the first one to screen in this population. 25557026

2015
dbSNP: rs137853100
rs137853100
PROP1
0.010 GeneticVariation BEFREE 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
dbSNP: rs121917841
rs121917841
PROP1
0.010 GeneticVariation BEFREE Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. 10946881

2000