Cholestasis

No Pathway Network information available for Cholestasis

Pathways in the Cholestasis SuperPath

#	Name	Source	Genes
1	Cholestasis	WikiPathways	ABCB11 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5 ABCG8 ATP8B1 EPHX1 LDLR NR1H4 NR1I3 RXRA SCARB1 SLC10A1 SLC22A1 SLCO1A2 TJP2 (see all 18) (see less)
2	Defective ABCB4 causes PFIC3, ICP3 and GBD1	Reactome	ABCB4

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	2
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	1
3	TJP2	Tight Junction Protein 2	Protein Coding	1
4	EPHX1	Epoxide Hydrolase 1	Protein Coding	1
5	SLC10A1	Solute Carrier Family 10 Member 1	Protein Coding	1
6	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	1
7	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
8	SLC22A1	Solute Carrier Family 22 Member 1	Protein Coding	1
9	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	1
10	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	1
11	SCARB1	Scavenger Receptor Class B Member 1	Protein Coding	1
12	LDLR	Low Density Lipoprotein Receptor	Protein Coding	1
13	ABCC4	ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group)	Protein Coding	1
14	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	1
15	SLCO1A2	Solute Carrier Organic Anion Transporter Family Member 1A2	Protein Coding	1
16	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1
17	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	1
18	NR1I3	Nuclear Receptor Subfamily 1 Group I Member 3	Protein Coding	1

Disorders associated with Cholestasis SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Intrahepatic cholestasis	Direct
2	Cholelithiasis	Direct
3	Intrahepatic cholestasis of pregnancy	Enrichment	ABCB11, ABCB4, ATP8B1, NR1H4	11.00
4	Cholestasis, progressive familial intrahepatic, 1	Enrichment	ABCB4, ATP8B1, NR1H4	7.41
5	Lipid metabolism disorder	Enrichment	ABCG5, ABCG8, LDLR	7.41
6	Familial hypercholanemia	Enrichment	EPHX1, SLC10A1, TJP2	7.41
7	Progressive familial intrahepatic cholestasis	Enrichment	ABCB11, ABCB4, ATP8B1	7.16
8	Homozygous familial hypercholesterolemia	Enrichment	ABCG5, ABCG8, LDLR	6.96
9	Coronary heart disease 5	Enrichment	ABCG5, ABCG8, LDLR	6.79
10	Cholestasis, progressive familial intrahepatic, 3	Enrichment	ABCB11, ABCB4	5.78
11	Gallbladder disease 4	Enrichment	ABCG5, ABCG8	5.78
12	Cholestasis, progressive familial intrahepatic, 4	Enrichment	ABCB11, TJP2	5.78
13	Cholestasis, intrahepatic, of pregnancy 3	Enrichment	ABCB11, ABCB4	5.78
14	Sitosterolemia 1	Enrichment	ABCG5, ABCG8	5.30
15	Sitosterolemia	Enrichment	ABCG5, ABCG8	5.30
16	Deafness, autosomal dominant 51	Enrichment	TJP2	2.88
17	High density lipoprotein cholesterol level quantitative trait locus 6	Enrichment	SCARB1	2.88
18	Gallbladder disease 1	Enrichment	ABCB4	2.88
19	Hypercholanemia, familial, 2	Enrichment	SLC10A1	2.88
20	Cholestasis, progressive familial intrahepatic, 5	Enrichment	NR1H4	2.88
21	Genetic lipodystrophy	Enrichment	EPHX1	2.88
22	Cholestasis, benign recurrent intrahepatic, 2	Enrichment	ABCB11	2.58
23	Cholestasis, progressive familial intrahepatic, 2	Enrichment	ABCB11	2.58
24	Sitosterolemia 2	Enrichment	ABCG5	2.58
25	Hyperlipoproteinemia, type iii	Enrichment	LDLR	2.58
26	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	ABCG5	2.58
27	Cholestasis, intrahepatic, of pregnancy, 1	Enrichment	ATP8B1	2.40
28	Hyperalphalipoproteinemia 1	Enrichment	SCARB1	2.40
29	Hypercholesterolemia, familial, 2	Enrichment	LDLR	2.40
30	Cholestasis, benign recurrent intrahepatic, 1	Enrichment	ATP8B1	2.40
31	Dubin-johnson syndrome	Enrichment	ABCC2	2.40
32	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	LDLR	2.40
33	Hypercholanemia, familial 1	Enrichment	TJP2	2.40
34	Hypercholesterolemia, familial, 4	Enrichment	LDLR	2.40
35	Syndromic x-linked intellectual disability najm type	Enrichment	LDLR	2.40
36	Hyperlipidemia, familial combined, 3	Enrichment	LDLR	2.18
37	Branchiootorenal syndrome 1	Enrichment	TJP2	2.10
38	Cowden syndrome 1	Enrichment	LDLR	2.10
39	Pseudoxanthoma elasticum	Enrichment	ABCC2	2.10
40	Branchiootorenal syndrome	Enrichment	TJP2	2.03
41	Primary biliary cholangitis	Enrichment	TJP2	1.93
42	Hypercholesterolemia, familial, 1	Enrichment	LDLR	1.77
43	Familial hypercholesterolemia	Enrichment	LDLR	1.70
44	Cystic fibrosis	Enrichment	EPHX1	1.38
45	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	ABCG5	1.37
46	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	TJP2	1.17
47	Myeloma, multiple	Enrichment	RXRA	1.14

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Pathway Network for Cholestasis

Member Pathways for Cholestasis

Pathways in the Cholestasis SuperPath

Associated Genes for Cholestasis

Associated Disorders for Cholestasis

Disorders associated with Cholestasis SuperPath

STRING Interaction Network for Cholestasis

Sources for Cholestasis