PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
0.120 Biomarker disease BEFREE 80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3. 25557026 2015
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
0.120 Biomarker disease BEFREE The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). 20694410 2010
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
0.120 Biomarker disease HPO