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Intrahepatic cholestasis
Intrahepatic cholestasis
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
INTRAHEPATIC CHOLESTASIS
C0008372
ABCB11
Causal
10579978
16039748
9806540
Disgenet
Endocrine resistance
ABC transporters
Bile secretion
Cholesterol metabolism
Recycling of bile acids and salts
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Defective ABCB11 causes progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2
+4 more
ABCB4
Causal
—
Disgenet
ABC transporters
Bile secretion
PPARA activates gene expression
ABC-family proteins mediated transport
Defective ABCB4 causes progressive familial intrahepatic cholestasis 3, intrahepatic cholestasis of pregnancy 3 and gallbladder disease 1
+2 more
All
9
Causal
2
Unknown
7
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Intrahepatic cholestasis.
5
View disease cluster →
Progressive intrahepatic cholestasis
4 shared genes
ATP8B1, TJP2, ABCB11, ABCB4
Related via 4 shared genes including ATP8B1, TJP2, ABCB11.
Benign recurrent intrahepatic cholestasis
2 shared genes
ATP8B1, ABCB11
Related via 2 shared genes including ATP8B1, ABCB11.
Intrahepatic cholestasis of pregnancy
3 shared genes
ATP8B1, ABCB11, ABCB4
Related via 3 shared genes including ATP8B1, ABCB11, ABCB4.
mednik syndrome
1 shared gene
AP1S1
Related via 1 shared gene including AP1S1.
progressive familial intrahepatic cholestasis type 3
1 shared gene
ABCB4
Related via 1 shared gene including ABCB4.
1
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