PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
Disease: Pituitary enlargement ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0877018
Disease: Pituitary enlargement
Pituitary enlargement 		0.020 GeneticVariation phenotype BEFREE Pituitary enlargement in patients with PROP1 gene inactivating mutation represents cystic hyperplasia of the intermediate pituitary lobe. Histopathology and over 10 years follow-up of two patients. 19774847 2009
CUI: C0877018
Disease: Pituitary enlargement
Pituitary enlargement 		0.020 Biomarker phenotype BEFREE Pituitary enlargement followed by regression and subnormal pituitary size has been documented in a number of PROP1 deficient patients. 16794371 2006