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. 2012 Sep 13;70(11):1897–1913. doi: 10.1007/s00018-012-1144-9

Table 4.

EYA and human disease

Disease Gene Type of misregulation References
Branchiootorenal syndrome EYA1 Loss of function mutations [87, 95]
Otofaciocervical syndrome EYA1 Loss of function mutations [97]
Cardiofacial syndrome EYA1 Loss of function mutations [107]
Congenital cataract EYA1 Loss of function mutations [47]
Wilms’ tumor EYA1 Overexpression [137]
EBV-negative gastric cancer EYA1 Frequent methylation [138]
Late-onset deafness EYA4 Loss of function mutations [99]
Dilated cardiomyopathy EYA4 Deletion [106]
Esophageal adenocarcinoma EYA4 Frequent methylation (overexpression) [128]
Colon cancer EYA4 Overexpression [130]
Colorectal cancer EYA4 Overexpression [131]
Colorectal cancer EYA2 Silencing methylation [139]
Epithelial ovarian cancer EYA2 Overexpression [133]
Lung adenocarcinoma EYA2 Overexpression [134]
Pancreatic ductal adenocarcinoma EYA3 Frequent deletion [140]