Disease Term Disease ID Gene Symbol References
Familial aplasia of the vermis C0431399 ARL3 30269812
ITPR1
LPO 26092869, 17397051
MEF2C
MVK
PDE6D
TFAP2A
OFD1 25356970, 24884629, 18546297, 23036093, 16783569, 27081566, 28289185
CEP104 26477546
KIAA0586 26096313, 26437029, 26026149, 26386247
KIAA0753 29138412, 28220259, 26643951
PIBF1 26167768
CLUAP1 28679688
RCOR1 26489029
KATNIP 26714646
RPGRIP1L 19430481, 17960139, 17558409, 18565097, 26092869, 19574260, 21866095, 17558407
C2CD3 26092869
TCTN3 22883145, 25118024
IFT172 26092869
B9D1 26092869, 21493627, 24886560
TMEM216 20512146, 28497568, 26092869, 22282472, 20036350, 23351400, 26673778
TMEM138 22282472
AHI1 26092869, 22693042, 16453322, 16155189
MKS1 16415886, 24886560, 28497568, 17935508, 17377820, 17437276, 26092869, 27377014, 27570071, 26490104, 17397051, 17185389
INPP5E 26748598, 23022135, 23386033, 19668215, 19668216
CC2D2A 26485645, 26673778, 26092869, 27082236, 22425360, 18950740, 23012439, 26477546, 19574260, 22241855, 19777577, 19466712
ALX4
TMEM237 22152675, 22693042
CPLANE1 24178751, 22425360, 25920555, 22693042
TMEM231 23349226, 23012439
TCTN1 28631893, 26489806, 22693042, 21725307
CSPP1 24360808, 24360807, 24360803
TCTN2 25118024, 21565611, 26092869
CEP290 21153841, 16682973, 25920555, 23954617, 25445212, 23344081, 22693042, 20079931, 25818971, 23847139, 23559409, 17345604, 26092869, 23591405, 20690115, 17564974, 28497568, 22355252, 16909394, 29398085, 17564967, 29588463, 20683928, 27491411, 17964524, 21068128, 17409309, 23351400, 17617513, 23188109, 21245082, 26047050, 16682970, 21602930, 25097241, 27353947, 26673778
ARMC9 28625504
B9D2 26092869, 21763481
LRRCC1
TMEM67 19574260, 17397051, 20232449, 20607301, 12368986, 18327255, 16415887, 21068128, 26035863, 23559409, 19508969, 19540516, 21866095, 28719906, 19058225, 25920555, 26092869, 28431631, 26729329, 17377820, 17160906
CEP41 22246503
CEP120 27208211
ARL13B 18674751
HYLS1 26830932, 15843405, 18648327
POC1B 24945461, 29377742
FAM149B1 30905400
KIF7 21633164
RNU4ATAC