PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
Disease: Anterior pituitary hormone deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3875161
Disease: Anterior pituitary hormone deficiency
Anterior pituitary hormone deficiency 		0.020 GeneticVariation disease BEFREE Because the different results may be related to differences in patient populations and/or the variability of clinical phenotypes, we performed the present study to examine the prevalence and spectrum of PROP1 gene mutations in 35 patients with non-acquired childhood-onset growth hormone deficiency combined with at least one other anterior pituitary hormone deficiency. 17526936 2006
CUI: C3875161
Disease: Anterior pituitary hormone deficiency
Anterior pituitary hormone deficiency 		0.020 GeneticVariation disease BEFREE A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency. 15521968 2004