Disease Term Disease ID Gene Symbol References
Meckel-Gruber syndrome C0265215 LPO 17397051
KIAA0586
RPGRIP1L 21866095, 21110233, 17558409, 17558407, 17960139, 19430481, 26092869, 18565097
B9D1 21493627
WDPCP 20671153
TMEM216 20512146, 21110233
TMEM138
MKS1 17389183, 23736532, 17377820, 17437276, 17185389, 21110233, 28497568, 26092869, 17397051, 16415886, 17935508, 24886560, 26490104, 27570071, 19466712
CEP55 28295209
RPGRIP1
CC2D2A 19574260, 19777577, 18950740, 26092869, 26477546, 23012439, 21110233, 22425360, 26673778, 19466712, 27082236, 22241855
MARK4
EXOC4
TMEM237
TMEM231 23349226
TXNDC15
CSPP1
TCTN2 21462283
CEP290 29588463, 20690115, 27353947, 21110233, 16682970, 16909394, 17617513, 21245082, 23188109, 26047050, 27491411, 17409309, 23351400, 17564974, 22693042, 23847139, 16682973, 21153841, 28497568, 23344081, 25445212, 17345604, 23591405, 26673778, 21068128, 20683928, 23954617, 25097241, 21602930, 22355252, 25920555, 17964524, 17564967, 23559409, 19466712, 25818971, 26092869, 20079931, 29398085
B9D2 21763481
TMEM107 26123494
EXOC3L2
TMEM67 25920555, 17377820, 20232449, 19540516, 17389183, 28719906, 26729329, 26092869, 17397051, 28431631, 23559409, 19574260, 21068128, 19508969, 21110233, 26035863, 21866095, 20607301, 12368986, 19466712, 19058225
EVC2