Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Cholestasis, progressive familial intrahepatic 1 |
ATP8B1 |
disease |
C0268312 |
Biomarker |
0.5 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ATP8B1 |
disease |
C0268312 |
AlteredExpression |
0.5 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB11 |
disease |
C0268312 |
GeneticVariation |
0.5 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ATP8B1 |
disease |
C0268312 |
CausalMutation |
0.5 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB11 |
disease |
C0268312 |
Biomarker |
0.5 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ATP8B1 |
disease |
C0268312 |
GeneticVariation |
0.5 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB11 |
disease |
C0268312 |
CausalMutation |
0.5 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB11 |
disease |
C0268312 |
AlteredExpression |
0.5 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB4 |
disease |
C0268312 |
GeneticVariation |
0.4 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB4 |
disease |
C0268312 |
AlteredExpression |
0.4 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB4 |
disease |
C0268312 |
Biomarker |
0.4 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
NR1H4 |
disease |
C0268312 |
GeneticVariation |
0.14 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
NR1H4 |
disease |
C0268312 |
CausalMutation |
0.14 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
NR1H4 |
disease |
C0268312 |
Biomarker |
0.14 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC1 |
disease |
C0268312 |
Biomarker |
0.07 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
LOC102724197 |
disease |
C0268312 |
Biomarker |
0.07 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC1 |
disease |
C0268312 |
AlteredExpression |
0.07 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
LOC102724197 |
disease |
C0268312 |
AlteredExpression |
0.07 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC3 |
disease |
C0268312 |
AlteredExpression |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC4P |
disease |
C0268312 |
Biomarker |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC5P |
disease |
C0268312 |
GeneticVariation |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGT2 |
disease |
C0268312 |
Biomarker |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC4P |
disease |
C0268312 |
AlteredExpression |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC5P |
disease |
C0268312 |
Biomarker |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGT2 |
disease |
C0268312 |
AlteredExpression |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC5P |
disease |
C0268312 |
AlteredExpression |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC4P |
disease |
C0268312 |
GeneticVariation |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC3 |
disease |
C0268312 |
Biomarker |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGT2 |
disease |
C0268312 |
GeneticVariation |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGTLC3 |
disease |
C0268312 |
GeneticVariation |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGT1 |
disease |
C0268312 |
Biomarker |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGT1 |
disease |
C0268312 |
GeneticVariation |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
GGT1 |
disease |
C0268312 |
AlteredExpression |
0.04 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
MYO5B |
disease |
C0268312 |
GeneticVariation |
0.02 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCC4 |
disease |
C0268312 |
AlteredExpression |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCC4 |
disease |
C0268312 |
GeneticVariation |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCC2 |
disease |
C0268312 |
Biomarker |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
TJP2 |
disease |
C0268312 |
GeneticVariation |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
MYO5B |
disease |
C0268312 |
Biomarker |
0.02 |
orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 1 |
HSD3B7 |
disease |
C0268312 |
Biomarker |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
SYCE1L |
disease |
C0268312 |
Biomarker |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
KLHL1 |
disease |
C0268312 |
Biomarker |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
HSD3B7 |
disease |
C0268312 |
GeneticVariation |
0.02 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCB1 |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
IBSP |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
FGF19 |
disease |
C0268312 |
Biomarker |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCG2 |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
CFTR |
disease |
C0268312 |
Biomarker |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
SLC10A2 |
disease |
C0268312 |
AlteredExpression |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
SLCO1B1 |
disease |
C0268312 |
Biomarker |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
ABCC3 |
disease |
C0268312 |
AlteredExpression |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
IMMT |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
DNAH8 |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
SLC25A13 |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
APOE |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
Cholestasis, progressive familial intrahepatic 1 |
CHST3 |
disease |
C0268312 |
GeneticVariation |
0.01 |
disgenet |
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