OTX1, orthodenticle homeobox 1, 5013

N. diseases: 35; N. variants: 1
Disease: Bladder Exstrophy and Epispadias Complex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838703
Disease: Bladder Exstrophy and Epispadias Complex
Bladder Exstrophy and Epispadias Complex 		0.010 GeneticVariation disease BEFREE Subject-1 with BEEC had the smallest deletion (66 kb), which deleted only one copy of OTX1. 25203062 2014