Disease |
Type1 |
Type2 |
Gene |
OMIM_No. |
Locus |
Protein |
Acc.No. |
IPI |
Cirrhosis |
primary biliary cirrhosis |
|
PDHX |
608769 |
11p13 |
pyruvate dehydrogenase complex, component X |
O00330 |
IPI00298423.3 |
Cirrhosis |
primary biliary cirrhosis |
|
OGDH |
203740 |
7p14-p13 |
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
Q02218 |
IPI00098902.3 |
Cirrhosis |
primary biliary cirrhosis |
|
PPM2C |
605993 |
8q22.1 ?? |
protein phosphatase 2C, magnesium-dependent, catalytic subunit |
Q9P0J1 |
IPI00218971.2 |
Cirrhosis |
primary biliary cirrhosis |
|
SP140 |
608602 |
2q37.1 ? |
SP140 nuclear body protein |
Q13342 |
IPI00219536.1 |
Cirrhosis |
primary biliary cirrhosis |
|
ABCB11 |
603201 |
2q24 ? |
ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
O95342 |
IPI00184848.2 |
Cirrhosis |
primary biliary cirrhosis |
|
ALPP |
171800 |
2q37 |
alkaline phosphatase, placental (Regan isozyme) |
P05187 |
IPI00007289.3 |
Cirrhosis |
primary biliary cirrhosis |
|
PML |
102578 |
15q22 |
Probable transcription factor |
P29590 |
IPI00395707.2 |
Cirrhosis |
primary biliary cirrhosis |
|
NRAMP1 |
600266 |
2q35 |
NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 1 |
P49279 |
IPI00290432.1 |
Cirrhosis |
primary biliary cirrhosis |
|
TLR4 |
603030 |
9q32-q33 |
toll-like receptor 4 |
O00206 |
IPI00008673.1 |
Cirrhosis |
primary biliary cirrhosis |
|
TLR3 |
603029 |
4q35 ?? |
toll-like receptor 3 |
O15455 |
IPI00019007.1 |
Cirrhosis |
primary biliary cirrhosis |
|
SLC10A1 |
182396 |
14q24.1 |
solute carrier family 10 (sodium/bile acid cotransporter family), member 1 |
Q14973 |
IPI00001637.1 |
Cirrhosis |
biliary cirrhosis |
|
ABCB4 |
171060 |
7q21.1 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
P21439 |
IPI00218731.1 |
Cirrhosis |
cryptogenic cirrhosis |
|
KRT8 |
148060 |
12q13 |
KERATIN 8 |
P05787 |
IPI00554648.1 |
Cirrhosis |
cryptogenic cirrhosis |
|
KRT18 |
148070 |
12q13 |
KERATIN 18 |
P05783 |
IPI00554788.2 |
liver fibrosis |
|
|
TIMP1 |
305370 |
Xp11.3-p11.23 |
IMP metallopeptidase inhibitor 1 |
P01033 |
IPI00032292.1 |
liver fibrosis |
|
|
TGFB1 |
190180 |
19q13.2|19q13.1 ? |
transforming growth factor, beta 1 (Camurati-Engelmann disease) |
P01137 |
IPI00000075.1 |
liver fibrosis |
|
|
HFE |
235200 |
6p21.3 ? |
hemochromatosis |
Q30201 |
|
liver fibrosis |
|
|
COL14A1 |
120324 |
8q23 ? |
collagen, type XIV, alpha 1 (undulin) |
Q05707 |
IPI00550918.1 |
tumor |
|
|
AFP |
104150 |
4q11-q13 |
alpha-fetoprotein |
P02771 |
IPI00022443.1 |
tumor |
|
|
HBXAP |
608522 |
11q13.5 |
hepatitis B virus x associated protein |
Q96T23 |
IPI00479823.1 |
tumor |
|
|
TP53 |
191170 |
17p13.1 ? |
tumor protein p53 (Li-Fraumeni syndrome) |
P04637 |
|
tumor |
|
|
DLC1 |
604258 |
8p22 |
deleted in liver cancer 1 |
Q96QB1 |
IPI00374033.1 |
tumor |
|
|
PSMD10 |
603480 |
Xq22.3 |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 |
O75832 |
IPI00003565.1 |
tumor |
|
|
GPC3 |
300037 |
Xq26.1 |
glypican 3 |
P51654 |
IPI00019907.1 |
tumor |
|
|
MGAT5 |
601774 |
2q21 |
mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase |
Q09328 |
IPI00020407.1 |
tumor |
|
|
SERPINA1 |
107400 |
14q32.1 ?? |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
P01009 |
IPI00553177.1 |
tumor |
|
|
PCNA |
176740 |
20pter-p12 |
proliferating cell nuclear antigen |
P12004 |
IPI00021700.1 |
tumor |
|
|
KRT19 |
148020 |
17q21.2 |
keratin 19 |
P08727 |
IPI00550818.2 |
tumor |
|
|
DLG7 |
|
14q22.3 |
discs, large homolog 7 (Drosophila) |
Q15398 |
IPI00184997.1 |
tumor |
|
|
LCO |
165320 |
2q14-q21 ? |
liver cancer oncogene |
no |
|