Disease Term Disease ID Gene Symbol References
Hepatic Fibrosis, Congenital C0009714 RBPJ
MPI
NOTCH1
NPHP1
PKHD1
CYP7B1
IQCB1
SDCCAG8
PNPLA6
DOLK
CEP164
RPGRIP1L
TRAF3IP1
NPHP3
B9D1
INVS
SLC40A1
WDPCP
TMEM216
DLL4
MKS1
DYNC2I1
CEP55
INPP5E
RPGRIP1
ARHGAP31
WDR35
CC2D2A 18513680, 19574260
IFT80
DOCK6
WDR19
HAMP
TMEM231
DYNC2H1
TTC21B 26940125, 24876116
CSPP1
TCTN2
CEP290
B9D2
TMEM107
DYNC2I2
TMEM67 26191240, 19058225
HJV
DZIP1L
NPHP4
IFNL3 28394349
POC1B 25018096, 24945461, 25044745
EOGT
TTC21B-AS1 24876116, 26940125