OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease BEFREE Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. 30268123 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE It is likely that the heterozygous severe OTX2 loss-of-function mutation caused GH deficiency and short stature, primarily because of decreased transactivation function for HESX1 and POU1F1. 18628516 2008
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO