Disease |
Type1 |
Type2 |
Gene |
OMIM_No. |
Locus |
Protein |
Acc.No. |
IPI |
Coproporphyria, Hereditary |
|
|
CPO |
121300 |
3q12 |
Coproporphyrinogen oxidase |
Q8IVL8/Q2M277 |
IPI00220711.1 |
Porphyria, Hepatoerythropoietic |
|
|
UROD |
176100 |
1p34 |
Uroporphyrinogen decarboxylase |
P06132 |
IPI00301489.3 |
Porphyria, Variegate |
|
|
PPOX |
600923 |
1q22 |
Protoporphyrinogen oxidase |
P50336 |
IPI00031357.1 |
Porphyria, Variegate |
|
|
HFE |
235200 |
6p21.3 |
Hereditary hemochromatosis protein |
Q30201 |
|
Protoporphyria, Erythropoietic |
|
|
FECH |
177000 |
18q21.3 |
Ferrochelatase |
P22830 |
IPI00027776.6 |
Gilbert Syndrome |
|
|
UGT1A1 |
191740 |
2q37 |
UDP-glucuronosyltransferase |
P22309 |
IPI00434346.1 |
Crigler-Najjar Syndrome |
I |
|
UGT1A1 |
191740 |
2q37 |
UDP-glucuronosyltransferase |
P22309 |
IPI00434346.1 |
Crigler-Najjar Syndrome |
II |
|
UGT1A1 |
191740 |
2q37 |
UDP-glucuronosyltransferase |
P22309 |
IPI00434346.1 |
Jaundice, Chronic Idiopathic |
|
|
CMOAT |
601107 |
10q24 |
canalicular multispecific organic anion transporter |
Q92887 |
IPI00023868.1 |
Hyperbilirubinemia, Hereditary |
|
|
CMOAT |
601107 |
10q24 |
canalicular multispecific organic anion transporter |
Q92887 |
IPI00023868.1 |
Lucey-driscoll syndrome |
|
|
UGT1A1 |
191740 |
2q37 |
UDP-glucuronosyltransferase |
P22309 |
IPI00434346.1 |
Breast milk jaundice |
|
|
UGT1A1 |
191740 |
2q37 |
uridine diphosphate-glucuronosyltransferase |
P22309 |
IPI00434346.1 |
Fatty liver |
Acute of pregnancy |
|
HADHA |
600890 |
2p23 ? |
Trifunctional enzyme alpha subunit, mitochondrial [Precursor] |
P40939 |
IPI00031522.2 |
Fatty liver |
|
|
PPARA |
170998 |
22q12-q13.1|22q13.31 |
peroxisome proliferative activated receptor, alpha |
Q07869 |
IPI00020097.1 |
Fatty liver |
|
|
LPIN3 |
605520 |
20q12 |
lipin-3 |
Q9BQK8 |
IPI00556641.1 |
Fatty liver |
|
|
LPIN2 |
605519 |
18p11.31 |
lipin-2 |
Q92539 |
IPI00021956.1 |
Fatty liver |
|
|
LPIN1 |
605518 |
2p21.5 |
lipin-1 |
Q14693 |
IPI00032388.4 |
Fatty liver |
|
|
ARH |
605747 |
1p36-p35 |
Autosomal recessive hypercholesterolemia protein |
Q5SW96 |
IPI00004758.3 |
Fatty liver |
|
|
PEPCK2 |
261650 |
14q11.2 |
Phosphoenolpyruvate carboxykinase [GTP], mitochondrial [Precursor] |
Q16822 |
IPI00294380.3 |
Fatty liver |
|
|
ADK |
102750 |
10q11-q24 |
adenosine kinase |
P55263 |
IPI00290279.1 |
Fatty liver |
|
|
MEIS1 |
601739 |
2p14-p13 |
Homeobox protein Meis1 |
O00470 |
IPI00011756.6 |
Fatty liver |
|
|
NEIL1 |
608844 |
15q22.33 |
Endonuclease VIII-like 1 |
Q96FI4 |
IPI00305213.3 |
Fatty liver |
|
|
IRS2 |
600797 |
13q34 |
Insulin receptor substrate 2 |
Q9Y4H2 |
IPI00464978.1 |
Fatty liver |
|
|
HSD11B1 |
600713 |
1q32-q41 |
Corticosteroid 11-beta-dehydrogenase isozyme 1 |
P28845 |
IPI00005682.2 |
Fatty liver |
|
|
HMGCL |
246450 |
1pter-p33 |
Hydroxymethylglutaryl-CoA lyase, mitochondrial [Precursor] |
P35914 |
IPI00293564.5 |
Fatty liver |
|
|
ALMS1 |
606844 |
2p13 |
Alstrom syndrome protein 1? |
Q8TCU4/Q8TCU4/Q8TCU4/Q8TCU4 |
IPI00178743.3 |
Fatty liver |
|
|
ACADS |
606885 |
12q22-qter |
Short-chain specific acyl-CoA dehydrogenase, mitochondrial [Precursor] |
P16219 |
IPI00027701.3 |
Fatty liver |
|
|
TGFB1 |
190180 |
19q13.1 |
Transforming growth factor, beta-1 |
P01137 |
IPI00000075.1 |
Fatty liver |
|
|
MTTP |
157147 |
4q24 |
Microsomal triglyceride transfer protein large subunit [Precursor] |
P55157 |
IPI00296645.3 |
Fatty liver |
|
|
CREB1 |
123810 |
2q32.3-q34 |
cAMP-response element-binding protein |
P16220 |
IPI00218334.1 |