Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		0.300 GermlineCausalMutation disease ORPHANET Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. 23840632 2013
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		0.300 GermlineCausalMutation disease ORPHANET BOR and BO syndromes are allelic defects of EYA1. 9359046 1998