Disease Term Disease ID Gene Symbol References
Cholestasis C0008370 ADK
JAG1
AGT 27989131
ALDH1B1 27989131
APOA1
B2M
BAAT 23415802, 12704386
BCAT1 27989131
BCS1L 12215968, 9792866
BLVRA 18706437
CAT 27989131
CFTR 9934970
AP1S1
ABCC2 17681005, 10869290, 22521610, 29499989, 29707407
COL6A1
MAPK14 20626112
CYP1A2 27565560
CYP7A1 22461449, 9797378
CYP8B1 22461449
CYP27A1 15795599
DGUOK 17538929
NQO1 22461449
EGR1 21224055
FAH 15759101
FGA 20974703
FH
GNAS 10673080
CXCL2 21224055
HADHA
HADHB
HBB
HFE
HSD17B4
ICAM1 21224055
ID4 27989131
IGF1 12826230
IL6 22461449
CXCL8 21224055
INSR
LIPA 8254026
LYZ
DNAJB9 26881866
MPV17 18695062
MYO5B 18724368
NFE2L2 20977460
NOS2 12612912, 20626112
SERPINE1 21224055
SERPINA5 27989131
PCSK1
PDYN 16919318
PHKA2
PHKG2
SERPINA1 4117022
POMC 3421781
PON1 27989131
MAPK13 20626112
RDX 17681005
RELA 20626112
SORT1 28453831
SAA1
CCL7 21224055
SLC16A2 27989131
SNAI1 21224055
SORL1 26881866
AKR1D1
SRP72 26881866
STAT1 26938784, 27117246
SULT2B1 27052460
HNF1B 22706971
TFAM
TLR2 27989131
TNF 20626112
NR1H2 17256725
VCAM1 21224055
VIL1 27989131
REEP5 26881866
ABCB11 11179459, 24713091, 22461449
ABCC3 22461449
F2RL3 20974703
CYP7B1 9802883
IFT140
PAN2 26881866
SLC23A2 18706437
SLC23A1 18706437
NR1H4 23178280, 22461449
FARSB
NR1H3 17256725
BTG3 27989131
KANK1 27989131
AMACR
LY96 27989131
HACL1 26881866
IFT172
NPHP3
ERLEC1 26881866
TMED7 26881866
HAO2 27989131
DCDC2
GTPBP2 27989131
WIPI1 27989131
C4orf19 27989131
SLC30A10 27989131
BEX4 27989131
DNAJC12 26881866
COG6
WDR35
ALDH8A1 27989131
ALG8
UBA5 26881866
HSD3B7 25526675
NPL 27989131
CFHR5 27989131
SLC10A7 26881866
TMEM117 26881866
DGAT2 27989131
GFM1
CADPS2 26881866
HOGA1 27989131
NIBAN1 27989131
SLC51B 16423920, 22461449
HJV 27989131
NFXL1 26881866
MBOAT1 27989131
GLIS3
SLC51A 16423920, 22461449
ANKS6
NEK8
RFLNB 27989131
MIRLET7B 22363424
MIRLET7I 22363424
MIR130B 22363424
MIR143 30125006
MIR185 22363424
MIR190A 22363424
MIR218-1 30125006, 22363424
MIR24-1 22363424
MIR27B 22363424
MIR99A 22363424
MIR337 22363424
MIR361 22363424
MIR377 22363424
MIR411 22363424
MIR875 22363424
Cholestasis, benign recurrent intrahepatic 1 C4551899 ATP8B1 9918928, 19731236, 15239083, 27604308, 9500542
ABCB4 21056966
ABCB11 21056966
Cholestasis, benign recurrent intrahepatic 2 C2608083 ABCB11 16039748, 27604308, 15300568
Cholestasis, Extrahepatic C0005398 ACTA2 28789951
ALB 30026087
BRCA1
BRCA2
CD68 28789951
CDKN1A
CDKN1B
CDKN2A
CDKN2B
CDKN2C
COL1A1 28789951
COL3A1 28789951
MAPK14 30026087
CCN2 28789951
FOS 28789951
HMGB1 28789951
IL1B 28789951
IL6 28789951
JUN 28789951
KRAS
SMAD4
MEN1
MMP2 28789951
MMP9 28789951
MPO 28789951
MYD88 28789951
NFE2L2 30026087
NOS2 30026087
NOS3 30026087
MAPK1 28789951
MAPK3 28789951
MAPK8 28789951
MAPK9 28789951
RELA 30026087, 28789951
MAP3K7 28789951
TGFB1 28789951, 30026087
TIMP1 28789951
TIMP2 28789951
TLR4 28789951
TNF 28789951
TP53
KEAP1 30026087
PALLD
PALB2
CYGB 30026087
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 C3549845 ATP8B1 19731236, 27604308, 15657619, 15888793
Cholestasis, progressive familial intrahepatic 3 C1865643 ABCB4 17726488, 21119540, 27604308, 11313315, 9419367, 22184139, 24594635, 24045840, 12671900, 28012258, 28552422, 24806754
Cholestasis, progressive familial intrahepatic 4 C2931067 TJP2 24614073, 24752540
HSD3B7
Cholestasis, Progressive Familial Intrahepatic, 2 C3489789 ABCB11 19101985, 15791618, 25847299, 26678486, 20583290, 9806540, 18395098, 27604308, 17855769, 10579978, 14672610, 11815775, 24969679, 16871584, 24231640