MCID: INT001
MIFTS: 51

Intrahepatic Cholestasis malady

Summaries for Intrahepatic Cholestasis

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MalaCards: Intrahepatic Cholestasis, also known as cholestasis intrahepatic, is related to cholestasis and citrin deficiency. An important gene associated with Intrahepatic Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Pravastatin Pathway, Pharmacokinetics and Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics. The compounds glycocholate and bromosulfophthalein have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and testes, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Aliases & Classifications for Intrahepatic Cholestasis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

intrahepatic cholestasis 8 10 60
cholestasis intrahepatic 44


External Ids:

Disease Ontology8 DOID:1852
MeSH34 D002780
SNOMED-CT56 4637005
NCIt39 C84400

Related Diseases for Intrahepatic Cholestasis

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17GeneCards, 18GeneDecks
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Diseases in the Cholestasis, Progressive Familial Intrahepatic 1 family:

intrahepatic cholestasis Benign Recurrent Intrahepatic Cholestasis 1
Benign Recurrent Intrahepatic Cholestasis 2 Cholestasis, Progressive Familial Intrahepatic 2
Cholestasis, Progressive Familial Intrahepatic 3 Cholestasis, Progressive Familial Intrahepatic 4
Atp8b1-Related Intrahepatic Cholestasis Abcb11-Related Intrahepatic Cholestasis
Benign Recurrent Intrahepatic Cholestasis

Diseases related to Intrahepatic Cholestasis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis32.2GGT1, LCAT, CIRH1A, ATP8B1, NR1I2, NR1H4
2citrin deficiency31.2SLC25A13
3cholestasis, progressive familial intrahepatic 131.1GGT1, ABCB4, ABCB11, NR1H4, ATP8B1
4benign recurrent intrahepatic cholestasis31.1ATP8B1, ABCB11
5hepatitis31.1GPT, SLC17A5
6cholestasis, progressive familial intrahepatic 330.7ATP8B1, ABCB11, ABCB4
7pancreatitis30.6GGT1, SLC17A5, ABCB4
8cholestasis, progressive familial intrahepatic 230.5ATP8B1, ABCB11, ABCB4
9extrahepatic cholestasis30.5GGT1, ABCC2
10hepatitis a30.4F2
11low gamma-gt familial intrahepatic cholestasis30.4ATP8B1, ABCB11
12biliary atresia30.4ATP8B1, NR1H4, GPT, SLC25A13, GGT1
13cholelithiasis30.3GPT, ABCB11, ABCB4, GGT1
14hyperthyroidism30.3SLC17A5
15viral hepatitis30.3LCAT, GPT, ABCB7, F2, SLC17A5, GGT1
16adenocarcinoma30.3GGT1, ABCB11, ABCC2, HLA-G
17cholangiocarcinoma30.1GGT1
18choledocholithiasis30.1GPT, SLC17A5, GGT1
19cholangitis30.1GPT, ABCB4, SLC17A5, GGT1
20acute liver failure30.1SLC17A5, F2, GPT
21alagille syndrome30.1LCAT, ATP8B1, ABCB4
22portal hypertension30.1GPT, F2, SLC17A5, GGT1
23hypertension30.1GGT1, F2
24autoimmune hepatitis30.1GPT, F2, SLC17A5, GGT1
25diabetes mellitus30.1GGT1, GPT, NR1H4, LCAT
26hepatitis c30.1GPT, ABCC2, ABCB7, F2, SLC17A5, GGT1
27obesity30.1LCAT, NR1H4, GPT, ABCB7, SLC17A5, GGT1
28wilson disease30.1SLC17A5, GPT
29breast cancer30.1LCAT, HLA-G, NR1I2, NR1H4, ABCC2, ABCB11
30hepatocellular carcinoma30.1NR1I2, GPT, ABCC2, ABCB7, ABCB4, F2
31intrahepatic cholestasis of pregnancy10.7
32neonatal intrahepatic cholestasis caused by citrin deficiency10.7
33liver disease10.5
34amyloidosis10.5
35benign recurrent intrahepatic cholestasis 110.5
36benign recurrent intrahepatic cholestasis 210.4
37cholestasis, intrahepatic, of pregnancy, 110.4
38eclampsia10.3
39sickle cell anemia10.2
40multiple myeloma10.2
41myeloma10.2
42pre-eclampsia10.2
43pheochromocytoma10.2
44sickle cell disease10.2
45atp8b1-related intrahepatic cholestasis10.2
46abcb11-related intrahepatic cholestasis10.2
47hepatic amyloidosis with intrahepatic cholestasis10.2
48impetigo herpetiformis10.1
49aagenaes syndrome10.1
50pure red-cell aplasia10.1

Graphical network of the top 20 diseases related to Intrahepatic Cholestasis:



Diseases related to intrahepatic cholestasis

Clinical Features for Intrahepatic Cholestasis

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Drugs & Therapeutics for Intrahepatic Cholestasis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Intrahepatic Cholestasis

Drug clinical trials:

Search ClinicalTrials for Intrahepatic Cholestasis

Search NIH Clinical Center for Intrahepatic Cholestasis

Search CenterWatch for Intrahepatic Cholestasis

Genetic Tests for Intrahepatic Cholestasis

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Anatomical Context for Intrahepatic Cholestasis

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32MalaCards
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MalaCards organs/tissues related to Intrahepatic Cholestasis:

32
Liver, Placenta, Testes, Colon, Smooth muscle, T cells, Breast, Heart, Bone, Appendix

Animal Models for Intrahepatic Cholestasis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.0ATP8B1, NR1I2, NR1H4, ABCC2, ABCB11, ABCB7
2MP:00053769.5GGT1, LCAT, HLA-G, ATP8B1, NR1I2, NR1H4

Publications for Intrahepatic Cholestasis

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50PubMed
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Articles related to Intrahepatic Cholestasis:

(show top 50)    (show all 653)
idTitleAuthorsYear
1
Study on the regulation of cell adhesion molecule expression and function in placenta from women with intrahepatic cholestasis of pregnancy. (23810461)
2013
2
Sudden fetal death in a patient with intrahepatic cholestasis of pregnancy complicated with gestational diabetes mellitus. (22886327)
2013
3
Usefulness of fetal monitoring in intrahepatic cholestasis of pregnancy: a prospective study. (22854875)
2012
4
Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. (21766090)
2011
5
Progressive familial intrahepatic cholestasis: a single-center experience of living-donor liver transplantation during two decades in Japan. (21158920)
2011
6
Relationship between umbilical artery Doppler waveform analysis and perinatal prognosis in women with intrahepatic cholestasis of pregnancy. (20705289)
2010
7
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. (20200759)
2010
8
Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (20376801)
2010
9
Nontransplant surgical interventions in progressive familial intrahepatic cholestasis. (19361647)
2009
10
Prolonged intrahepatic cholestasis and renal failure secondary to anabolic androgenic steroid-enriched dietary supplements. (19238093)
2009
11
Activity of lysosomal enzymes in the bile and serum of mice with intrahepatic cholestasis. (19145281)
2008
12
Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis. (17592371)
2007
13
Intrahepatic cholestasis of pregnancy: detection with urinary bile acid assays. (18052835)
2007
14
Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. (16458994)
2006
15
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. (16613706)
2006
16
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. (16737877)
2006
17
A prolonged gestational intrahepatic cholestasis: a case report. (16941255)
2006
18
Intrahepatic cholestasis of pregnancy--a heterogeneous group of pregnancy-related disorders? (16557565)
2006
19
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. (16039748)
2005
20
Intrahepatic cholestasis as a paraneoplastic syndrome associated with pheochromocytoma. (15887866)
2005
21
Plasmapheresis for the treatment of intrahepatic cholestasis of pregnancy refractory to medical treatment. (15970907)
2005
22
Successful outcome of acute sickle cell intrahepatic cholestasis in a patient with sickle/beta+ thalassaemia and chronic hepatitis C virus infection. (15158356)
2004
23
Glutathione S-transferase and liver function in intrahepatic cholestasis of pregnancy and pruritus gravidarum. (15565572)
2004
24
Long-term red blood cell exchange can be used to successfully treat sickle cell intrahepatic cholestasis: a case report. (15095397)
2004
25
Intrahepatic cholestasis of pregnancy. (15062199)
2004
26
Resistance to parathyroid hormone in two patients with familial intrahepatic cholestasis: possible involvement of the ATP8B1 gene in calcium regulation via parathyroid hormone. (15448432)
2004
27
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
28
Severe pancytopenia and intrahepatic cholestasis in a patient with a history of Hodgkin's disease. Responsiveness to high-dose pulse steroid therapy and diagnosis of a late relapse. (11711275)
2001
29
Apolipoprotein E alleles in women with intrahepatic cholestasis of pregnancy. (11063158)
2000
30
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. (11146465)
2000
31
Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy. A retrospective study of 19 cases. (11081677)
2000
32
The ultrasonographic 'triangular cord' coupled with gallbladder images in the diagnostic prediction of biliary atresia from infantile intrahepatic cholestasis. (10591576)
1999
33
Intrahepatic cholestasis: order out of chaos. (10579993)
1999
34
Severe intrahepatic cholestasis caused by amiodarone toxicity after withdrawal of the drug: a case report and review of the literature. (10086516)
1999
35
Intrahepatic cholestasis related to vanishing bile duct syndrome in Hodgkin's disease. (9144127)
1997
36
Progressive familial intrahepatic cholestasis among the Arab population in Israel. (9161950)
1997
37
Azithromycin-induced intrahepatic cholestasis. (9217574)
1997
38
Ketone potentiation of intrahepatic cholestasis: effect of two aliphatic isomers. (9015131)
1997
39
Intrahepatic cholestasis associated with moclobemide leading to death. (8602021)
1996
40
Severe fetal intracranial haemorrhage during treatment with cholestyramine for intrahepatic cholestasis of pregnancy. (7756215)
1995
41
Serum conjugated bile acid profile during intrahepatic cholestasis of pregnancy. (7751589)
1995
42
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. (7655458)
1995
43
Cytomegalic inclusion disease presenting acute intrahepatic cholestasis. (1338619)
1992
44
Effects of ursodeoxycholic acid in patients with intrahepatic cholestasis of pregnancy. (1592342)
1992
45
Serum copper in intrahepatic cholestasis of pregnancy. (1820694)
1991
46
Recurrent intrahepatic cholestasis of pregnancy. (3473670)
1987
47
Serum bile acid levels in intrahepatic cholestasis of pregnancy during treatment with phenobarbital or cholestyramine. (7160524)
1982
48
Viral hepatitis and intrahepatic cholestasis of pregnancy. (222251)
1979
49
Erythrocytic enzymes of phosphorylating glycolysis. The aldolase activity in full blood, erythrocytes and plasma in women with a normal course of gestation and with intrahepatic cholestasis of pregnancy. (4637723)
1972
50
RECURRENT INTRAHEPATIC CHOLESTASIS OF PREGNANCY: OBSERVATIONS ON PATHOGENESIS. (14326722)
1965

Genetic Variations for Intrahepatic Cholestasis

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Expression for genes affiliated with Intrahepatic Cholestasis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Intrahepatic Cholestasis

Search GEO for disease gene expression data for Intrahepatic Cholestasis.

Pathways for genes affiliated with Intrahepatic Cholestasis

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49PharmGKB, 53Reactome, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3ABCC2, ABCB11, SLCO1B3
2
Hide members
10.3ABCC2, ABCB11, SLCO1B3
3
Hide members
10.3SLCO1A2, SLCO1B3, ABCB11
410.3SLC4A2, NR1H4, NR1I2
510.3SLCO1A2, ABCB4, ABCB11, ABCC2
610.3NR1I2, NR1H4, ABCC2, ABCB11
7
Hide members
10.3ABCB4, ABCB7, ABCB11, ABCC2
8
Hide members
10.3NR1I2, ABCC2, SLCO1B3, CES1
910.3NR1I2, NR1H4, ABCC2, ABCB11, ABCB4
1010.2SLCO1A2, SLC4A2, SLCO1B3, ABCB4, ABCB11, ABCC2
11
Hide members
10.2ATP8B1, ABCC2, ABCB7, SLCO1B3, SLC4A2, SLCO1A2
12
Hide members
10.1GPT, ABCB11, ABCB7, ABCB4, SLCO1B3, SLC25A13

Compounds for genes affiliated with Intrahepatic Cholestasis

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44Novoseek, 28IUPHAR, 24HMDB, 49PharmGKB, 11DrugBank, 2BitterDB, 59Tocris Bioscience
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Compounds related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 154)
idCompoundScoreTop Affiliating Genes
1glycocholate4410.7GPT, ABCC2, ABCB11, ABCB4, SLC17A5
2bromosulfophthalein4410.7GPT, ABCC2, SLCO1A2, SLCO1B3
3aminopyrine4410.7SLC17A5, F2, GPT, GGT1
4lithocholic acid44 28 2412.7SLCO1A2, NR1H4, NR1I2, SLCO1B3, ABCB11
5rifampin49 1111.7SLCO1A2, NR1I2, SLCO1B3, ABCB11, ABCC2
6rosuvastatin44 49 28 1113.7ABCB11, ABCC2, GPT, SLCO1B3, SLCO1A2, SLC17A5
7taurocholate4410.6ABCB11, SLCO1A2, SLCO1B3, ABCB4, NR1H4, ATP8B1
8bezafibrate44 28 1112.6LCAT, SLC17A5, GGT1, ABCB4, GPT
9acetaminophen44 2 49 11 2414.6F2, GPT, NR1I2, SLC17A5, GGT1, ABCC2
10phenobarbital44 28 1112.6SLC17A5, ABCB11, GPT, NR1I2, GGT1, ABCC2
11digoxin44 49 59 11 2414.6NR1I2, ABCC2, ABCB11, F2, SLCO1B3, SLCO1A2
12silymarin4410.6GGT1, SLC17A5, F2, ABCB7, GPT
13nevirapine44 49 1112.6GGT1, SLC17A5, ABCB7, GPT
14verapamil44 49 28 11 2414.6SLC17A5, SLCO1A2, ABCC2, GGT1, ABCB11, GPT
15phenytoin44 49 28 1113.6NR1I2, ABCC2, ABCB11, GGT1, SLC17A5
16chenodeoxycholic acid44 28 11 2413.6ABCB4, SLCO1A2, SLCO1B3, ABCB11, NR1I2, GPT
17mycophenolate mofetil44 49 1112.6ABCC2, SLCO1B3, GPT, CES1, GGT1
18Taurocholic Acid11 2411.6ABCC2, SLCO1A2, SLCO1B3, ABCB11
19tacrolimus44 49 1112.6GPT, ABCC2, ABCB11, ABCB4, SLC17A5, NR1I2
20ezetimibe44 1111.6SLC17A5, GPT, ABCC2, CES1
21simvastatin44 49 59 28 11 2415.6CES1, LCAT, GPT, ABCC2, SLCO1A2, SLC17A5
22vitamin-e4410.6GGT1, SLC17A5, CES1, NR1I2, GPT, ABCB7
23hepaplastin4410.6SLC17A5, GPT, F2
24atorvastatin44 49 28 11 2414.6SLCO1B3, LCAT, GPT, ABCC2, CES1, SLC17A5
25rifampicin44 28 5912.6GGT1, ABCC2, SLC17A5, NR1I2, ABCB11, GPT
26lovastatin44 49 59 28 1114.6CES1, GGT1, NR1I2, GPT, ABCC2, SLCO1A2
27lamivudine44 1111.6GPT, ABCC2, SLC17A5, F2
28deoxycholic acid44 28 11 2413.6SLCO1A2, SLCO1B3, ABCB11, NR1H4
29cholic acid44 28 11 2413.5CES1, SLCO1B3, ABCB11, NR1H4, NR1I2, LCAT
30pravastatin44 49 28 11 2414.5ABCB11, LCAT, SLCO1B3, SLCO1A2, ABCB7, GPT
31urea44 11 2412.5ABCB7, HLA-G, SLC25A13, SLC17A5, GGT1, GPT
32cyclosporin a44 28 5912.5GPT, SLCO1B3, SLC17A5, ABCB11, ABCB4, F2
33dexamethasone44 49 28 1113.5GGT1, ABCC2, ABCB4, LCAT, SLCO1A2, NR1I2
34chloride4410.5SLC17A5, GPT, ABCC2, ABCB11, ABCB7, SLC4A2
35phospholipid4410.5SLC17A5, LCAT, NR1H4, CES1, F2, ABCB4
36sodium44 2411.5HLA-G, SLC4A2, ABCB7, NR1H4
37tamoxifen44 49 28 1113.5NR1I2, ABCC2, ABCB11, F2, SLC17A5, GGT1
38methotrexate44 49 1112.5HLA-G, NR1I2, GPT, ABCC2, ABCB4, F2
39wort4410.5ABCB11, NR1I2, ABCC2
40ursodeoxycholic acid44 11 2412.4GGT1, SLC17A5, SLCO1A2, SLCO1B3, F2, ABCB4
41testosterone44 59 11 2413.4GGT1, LCAT, NR1I2, NR1H4, ABCB7, CES1
42phosphorus4410.4GGT1, GPT, ABCB7, SLC17A5
431,3,7,12-Tetrahydroxycholan-24-oic acid2410.3SLCO1B3, SLCO1A2, ABCB11
44cholesterol44 28 11 2413.3SLCO1A2, SLC17A5, GGT1, CES1, LCAT, ABCB11
45gw 406444 5911.3NR1I2, NR1H4, ABCC2
46creatinine4410.3ABCC2, GPT, HLA-G, ABCB7, GGT1, SLC17A5
47lipid4410.3NR1H4, SLC17A5, GGT1, CES1, LCAT, ABCB7
48aspartate4410.3ABCB7, F2, GPT, ABCB4, SLC25A13, SLC17A5
491,3,12-Trihydroxycholan-24-oic acid2410.2ABCB11, SLCO1B3, SLCO1A2
50(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid2410.0ABCB11, SLCO1B3, SLCO1A2

GO Terms for genes affiliated with Intrahepatic Cholestasis

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16Gene Ontology
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Cellular components related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:04658110.4ABCC2, ABCB11, ABCB4
2integral to plasma membraneGO:00588710.1SLC25A13, SLCO1B3, ABCB4, ABCB11, ABCC2, ATP8B1
3apical plasma membraneGO:01632410.0ABCB4, ATP8B1, ABCC2, ABCB11
4plasma membraneGO:00588610.0SLCO1A2, SLC4A2, HLA-G, SLCO1B3, F2, ABCB4

Biological processes related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:01572110.5ATP8B1, ABCB11, SLCO1B3, SLCO1A2
2bile acid metabolic processGO:00820610.4ATP8B1, NR1H4, ABCB11, SLCO1B3, SLCO1A2
3organic anion transportGO:01571110.4SLCO1A2, SLCO1B3
4glutathione biosynthetic processGO:00675010.4GGT1, GGT3P
5transportGO:00681010.3ABCC2, ABCB11, ABCB7, ABCB4, SLC25A13
6transmembrane transportGO:05508510.3SLC17A5, ATP8B1, ABCC2, ABCB11, ABCB7, ABCB4
7anion transportGO:00682010.3SLC4A2, SLC17A5
8small molecule metabolic processGO:04428110.2LCAT, GPT, ABCB11, ABCB7, ABCB4, SLCO1B3
9sodium-independent organic anion transportGO:04325210.1SLCO1A2, SLCO1B3

Molecular functions related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-glutamyltransferase activityGO:00384010.4GGT1, GGT3P
2ATPase activity, coupled to transmembrane movement of substancesGO:04262610.3ABCB4, ABCB7, ABCB11, ABCC2
3organic anion transmembrane transporter activityGO:00851410.2ABCC2, SLCO1B3, SLCO1A2
4glutathione hydrolase activityGO:03637410.1GGT1, GGT3P

Products for genes affiliated with Intrahepatic Cholestasis

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  • Antibodies
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Sources for Intrahepatic Cholestasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet