Disease Term Disease ID Gene Symbol References
Hereditary retinal dystrophy C0154860 MYO7A 10958658, 8622919, 23559863, 28400833, 28660889, 25211151, 18181211, 27013738, 7870172
USH1C 10973247, 21203349, 11239869, 10973248
ARL2BP 23849777, 27790702
WHRN 21738389, 17171570, 20502675, 12833159, 22147658, 16434480, 26338283, 27117407, 28254438
CDH23 20513143, 11750125, 11090341, 12407180, 12075507, 21689626
PCDH15 15928608, 11138007, 15634702, 16260500, 11398101, 12782354, 11487575
PANK2
USH1G 12588794, 26936824, 27583663, 22381527, 25798947, 24608321, 17923142, 21436032, 11941484