| Intrahepatic Cholestasis |
C0008372 |
AP1S1
|
23423674 |
|
EGR1
|
22094456, 18364083 |
|
MAF
|
20146260 |
|
MAFG
|
20146260 |
|
ATP8B1
|
18379143 |
|
ABCB4
|
|
|
SC5D
|
|
|
AKR1D1
|
|
|
ABCB11
|
18049162 |
|
TJP2
|
24614073 |
|
CYP7B1
|
|
|
SLC25A13
|
|
|
AMACR
|
|
|
HSD3B7
|
|
|
TMPRSS6
|
|
| Cholestasis, progressive familial intrahepatic 1 |
C4551898 |
MYO5B
|
27532546 |
|
ATP8B1
|
15239083, 19731236, 9918928, 20038848, 26879107, 27604308, 11093741, 9500542, 23197899, 19918981 |
|
ABCB4
|
21056966 |
|
ABCB11
|
21056966 |
| Progressive intrahepatic cholestasis (disorder) |
C0268312 |
ATP8B1
|
|
|
ABCB4
|
|
|
ABCB11
|
18395098, 9806540, 17855769 |
|
NR1H4
|
21633855, 26888176 |
| CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 |
C3554241 |
ABCB4
|
27604308, 12746424, 10767346, 15077010 |
|
ABCB11
|
|
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 |
C4310747 |
NR1H4
|
26888176 |
| Progressive familial intrahepatic cholestasis type 5 |
480476 |
NR1H4
|
|
| MYO5B-related progressive familial intrahepatic cholestasis |
480491 |
MYO5B
|
|
| Progressive familial intrahepatic cholestasis type 4 |
480483 |
TJP2
|
|
| Progressive familial intrahepatic cholestasis type 1 |
79306 |
MYO5B
|
|
|
ATP8B1
|
|
| Progressive familial intrahepatic cholestasis type 2 |
79304 |
ABCB11
|
|
| Progressive familial intrahepatic cholestasis type 3 |
79305 |
ABCB4
|
|
| Neonatal intrahepatic cholestasis due to citrin deficiency |
247598 |
SLC25A13
|
|
