OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Pituitary dwarfism ×
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 We provide an overview of all OTX2 mutations described till date, which show that OTX2 is a promising candidate gene for genetic screening of patients with CPHD or isolated GH deficiency (IGHD). 22715480 2012
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.120 GeneticVariation disease BEFREE A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. 20396904 2010
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.120 Biomarker disease HPO