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Cholestasis
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