Disease Term Disease ID Gene Symbol References
Ellis Van Creveld syndrome 289 DYNC2LI1
GLI1
EVC
EVC2
Ellis-Van Creveld Syndrome C0013903 CRMP1 29068549, 23220543, 17024374, 10700184, 29321360, 20184732, 19810119
EVC 10700184, 20184732, 19251731, 19744229, 23220543, 17024374, 29068549, 29321360, 28854412, 18947413, 22791528, 23026747, 19810119, 21815252, 17660199
GLI1 28973407
DYNC2LI1 26130459
EVC2 12468274, 12571802, 26580685, 19876929, 21199751, 23220543, 22190900, 27280866, 17024374, 26818569, 19251731, 22791528, 26748586, 22406498, 19810119, 23026208, 25525159, 28081373, 21815252, 16404586, 26219237