Disease Term Disease ID Gene Symbol References
Cohen syndrome C0265223, 193 COX6C 19006247, 15141358, 20461111, 27533158
VPS13B 22855652, 25472526, 25271213, 20656880, 15173253, 16648375, 25356970, 24334764, 21865173, 22527104, 19006247, 22382802, 26395554, 25525159, 27533158, 15211651, 26938784, 21659346, 15154116, 16917849, 17990063, 20461111, 15141358, 24311531, 20683995, 26104215, 23352163, 12730828, 17786118, 23188044, 15691367