Disease Term Disease ID Gene Symbol References
Meckel syndrome type 1 C3714506 LPO 16415886, 17397051
KIF14
RPGRIP1L 19574260
NPHP3
B9D1 24886560, 25920555, 21493627
WDPCP 20671153
TMEM216 20512146, 20036350
MKS1 4886560, 16415886, 24886560, 26490104, 27570071, 24643152, 26092869, 17437276, 23454480, 17377820, 19466712, 21228398, 17397051
RPGRIP1
CC2D2A 19777577
TMEM231 23012439, 23349226
TXNDC15 27894351
CSPP1 24360807, 24360808, 24360803
TCTN2 21565611, 25118024
CEP290 18327255, 20690115
B9D2 21763481, 26092869
TMEM107 24901346
TMEM67 18327255, 20607301, 19508969, 16415887
HYLS1
MECKEL SYNDROME 12 C4015701 KIF14 24128419, 30388224
MECKEL SYNDROME, TYPE 5 C1969052 RPGRIP1L 17558407, 17558409, 19574260, 19430481
Renal hepatic pancreatic dysplasia Dandy Walker cyst C2673885 NPHP3 12872122, 18371931
CEP55 28295209
NPHP3-ACAD11
MECKEL SYNDROME, TYPE 9 C3280155 B9D1 21493627, 25920555, 24886560
MECKEL SYNDROME, TYPE 2 C1864148 TMEM216 23351400, 20512146, 22282472, 20036350
MECKEL SYNDROME, TYPE 6 (disorder) C2676790 CC2D2A 18513680, 24706459, 18950740, 19466712, 23351400, 22246503, 19777577, 19574260, 27959436
MECKEL SYNDROME, TYPE 11 C3809352 TMEM231 25869670, 23349226, 27449316, 23012439
MECKEL SYNDROME, TYPE 8 C3836857 TCTN2 21462283, 25118024
MECKEL SYNDROME, TYPE 4 C1970161 CEP290 20690115, 17564974, 17345604, 18327255, 30055837, 16909394
MECKEL SYNDROME, TYPE 10 C3280036 B9D2 26092869, 21763481
MECKEL SYNDROME 13 C4539714 TMEM107 26123494, 26518474, 26595381
Meckel syndrome type 3 C1846357 TMEM67 16415887, 26191240, 19508969, 613550, 19058225, 17185389, 20232449, 18327255, 17397051, 20607301, 19466712, 17377820
Meckel syndrome 564 CEP55
TMEM107
RPGRIP1
CEP290
TMEM67
MKS1
RPGRIP1L
CC2D2A
TMEM216
WDPCP
TCTN2
B9D1
B9D2
TMEM231
CSPP1