Disease |
Type1 |
Type2 |
Gene |
OMIM_No. |
Locus |
Protein |
Acc.No. |
IPI |
Fatty liver |
|
|
SLC22A5 |
603377 |
5q31.1 |
Organic cation/carnitine transporter 2 |
O76082 |
IPI00435872.3 |
Alcoholic liver disease |
|
|
CYP2E1 |
124040 |
10q24.3-qter |
cytochrome P450 2E1 |
P05181 |
IPI00007282.1 |
Alcoholic liver disease |
|
|
HFE |
235200 |
6p21.3 |
Hereditary hemochromatosis protein [Precursor] |
Q30201 |
|
Alcoholic liver disease |
|
|
ADH1B |
103720 |
4q21-q23 |
Alcohol dehydrogenase 1B |
P00325 |
IPI00473031.5 |
Alcoholic liver disease |
|
|
TFRC |
190010 |
3q29 |
transferrin receptor (p90, CD71) |
P02786 |
IPI00022462.1 |
Alcoholic liver disease |
|
|
ADAMTS13 |
604134 |
9q34 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
Q6QNA7/Q6QNA4/Q96L37/Q5T8S7/Q96P40/Q3SYG5/Q6QNA5/Q6QNA6 |
IPI00160506.1 |
Alcoholic liver disease |
|
|
IL18BP |
604113 |
11q13 |
interleukin 18 binding protein |
O95998 |
IPI00304305.1 |
Alcoholic liver disease |
|
|
SQSTM1 |
601530 |
5q35 |
sequestosome 1 |
Q13501 |
IPI00179473.6 |
Alcoholic liver disease |
|
|
CP |
117700 |
3q23-q25 |
ceruloplasmin (ferroxidase) |
P00450 |
IPI00017601.1 |
Alcoholic liver disease |
|
|
TNFRSF1B |
191191 |
1p36.3-p36.2 |
TUMOR NECROSIS FACTOR RECEPTOR 2; TNFR2 |
P20333 |
IPI00217116.1 |
Alcoholic liver disease |
|
|
TNFRSF1A |
191190 |
12p13.2 |
tumor necrosis factor receptor 1; TNFR1; |
|
|
Alcoholic liver disease |
|
|
FST |
136470 |
5q11.2 |
follistatin |
P19883 |
IPI00021081.2 |
Alcoholic liver disease |
|
|
GSS |
601002 |
20q11.2 |
glutathione synthetase |
P48637 |
IPI00010706.1 |
Alcoholic liver disease |
|
|
LEP |
164160 |
7q31.3 ?? |
leptin (obesity homolog, mouse) |
P41159 |
IPI00012760.1 |
Alcoholic liver disease |
|
|
VTN |
193190 |
17q11 ? |
vitronectin |
P04004 |
IPI00298971.1 |
Alcoholic liver disease |
|
|
AFP |
104150 |
4q11-q13 |
Alpha-fetoprotein ? |
P02771 |
IPI00022443.1 |
Alcoholic liver disease |
|
|
UROD |
176100 |
1p34 |
Uroporphyrinogen decarboxylase |
P06132 |
IPI00301489.3 |
Cirrhosis |
|
|
ALB |
103600 |
4q11-q13 |
albumin |
P02768 |
IPI00022434.2 |
Cirrhosis |
|
|
SERPINA1 |
107400 |
14q32.1 |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
P01009 |
IPI00553177.1 |
Cirrhosis |
|
|
TGFB1 |
|
19q13.2|19q13.1 |
Transforming growth factor beta 1 |
P01137 |
IPI00000075.1 |
Cirrhosis |
|
|
TGFB2 |
|
1q41 |
Transforming growth factor beta 2 |
P61812 |
IPI00235354.1 |
Cirrhosis |
|
|
TGFB3 |
|
14q24 ? |
Transforming growth factor beta 3 |
P10600 |
IPI00021780.1 |
Cirrhosis |
|
|
TGFBR2 |
|
3p22 ?? |
transforming growth factor, beta receptor II |
P37173 |
IPI00164934.2 |
Cirrhosis |
Alcoholic cirrhosis |
|
ALDH2 |
100650 |
12q24.2 ? |
Aldehyde dehydrogenase, mitochondrial |
P05091 |
IPI00006663.1 |
Cirrhosis |
Alcoholic cirrhosis |
|
ADH1C |
103730 |
4q21-q23 |
alcohol dehydrogenase 1C (class I), gamma polypeptide |
P00326 |
IPI00465343.2 |
Cirrhosis |
Alcoholic cirrhosis |
|
ADH1B |
103720 |
4q21-q23 ? |
alcohol dehydrogenase IB (class I), beta polypeptide |
P00325 |
IPI00473031.5 |
Cirrhosis |
North American Indian childhood type |
|
CIRH1A |
607456 |
16q22 |
CIRHIN |
Q969X6 |
IPI00399197.1 |
Cirrhosis |
primary sclerosing cholangitis |
|
CFTR |
602421 |
7q31.2 |
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR |
P13569 |
IPI00302383.3 |
Cirrhosis |
primary biliary cirrhosis |
|
DLAT |
608770 |
11q23.1 |
dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) |
P10515 |
IPI00021338.1 |
Cirrhosis |
primary biliary cirrhosis |
|
SP100 |
604585 |
2q37.1 ? |
SP100 nuclear antigen |
P23497 |
IPI00218327.3 |