MCID: INT001
MIFTS: 63

Intrahepatic Cholestasis malady

Genetic diseases, Rare diseases, Liver diseases, Reproductive diseases, Respiratory diseases, Metabolic diseases, Nephrological diseases categories

Summaries for Intrahepatic Cholestasis

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Genetics Home Reference:23 Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in the third trimester of pregnancy. Bile flow returns to normal after delivery of the baby, and the signs and symptoms of the condition disappear. However, they can return during later pregnancies.

MalaCards based summary: Intrahepatic Cholestasis, also known as intrahepatic cholestasis of pregnancy, is related to cholestasis and cholestasis, benign recurrent intrahepatic. An important gene associated with Intrahepatic Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are ABC-family proteins mediated transport and Nuclear Receptor transcription pathway. The compounds hepaplastin and wort have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and testes, and related mouse phenotypes are growth/size/body and liver/biliary system.

Aliases & Classifications for Intrahepatic Cholestasis

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Sources:
10Disease Ontology, 12DISEASES, 62UMLS, 43NIH Rare Diseases, 23Genetics Home Reference, 49Orphanet, 22GeneTests, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet
See all sources

Intrahepatic Cholestasis, Aliases & Descriptions:

Name: Intrahepatic Cholestasis 10 12 62
Intrahepatic Cholestasis of Pregnancy 10 43 23 49
Recurrent Intrahepatic Cholestasis of Pregnancy 43 23 49
Familial Intrahepatic Cholestasis of Pregnancy 43 22
Chronic Pneumonitis of Infancy 43 49
Pregnancy-Related Cholestasis 23 49
Cpi 43 49
Familial Recurrent Intrahepatic Cholestasis of Pregnancy 43
 
Cholestasis, Intrahepatic of Pregnancy 43
Gravidic Intrahepatic Cholestasis 49
Pregnancy Related Cholestasis 43
Cholestasis Intrahepatic 45
Obstetric Cholestasis 23
Ricp 43
Icp 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
intrahepatic cholestasis of pregnancy:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult
chronic pneumonitis of infancy:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:1852
MeSH35 D002780
NCIt40 C84400
SNOMED-CT57 4637005
Orphanet49 69665, 91359
MESH via Orphanet36 C535932
ICD10 via Orphanet28 O26.6, J84.0

Related Diseases for Intrahepatic Cholestasis

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Diseases in the Intrahepatic Cholestasis family:

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

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

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis32.1SLC25A13, CIRH1A, ABCC2, ABCB11, ABCB4, F2
2cholestasis, benign recurrent intrahepatic31.4ATP8B1, ABCB11
3hepatitis31.3SLC17A5, F2, GPT
4cholestasis, progressive familial intrahepatic 131.3ABCB11, NR1H4, ABCB4, ATP8B1
5cholestasis, progressive familial intrahepatic 331.0ABCB4, ABCB11, ATP8B1
6liver disease30.9NR1H4, F2, ABCB4, ABCB11, ATP8B1
7cholestasis, progressive familial intrahepatic 230.8ABCB4, ABCB11, ATP8B1
8low gamma-gt familial intrahepatic cholestasis30.7ABCB11, ATP8B1
9biliary atresia30.6GPT, ATP8B1, NR1H4, SLC25A13
10portal hypertension30.5SLC17A5, F2, GPT
11cholelithiasis30.5GPT, ABCB4, ABCB11
12viral hepatitis30.5GPT, SLC17A5, F2
13hepatitis c30.4ABCC2, SLC17A5, F2, GPT
14citrullinemia, adult-onset type ii30.3SLC25A13
15choledocholithiasis30.3SLC17A5, GPT
16cholangitis30.2ABCB4, SLC17A5, GPT
17acute liver failure30.2GPT, F2, SLC17A5
18autoimmune hepatitis30.2F2, GPT, SLC17A5
19hepatitis b30.2F2, GPT, SLC17A5
20alagille syndrome30.2ABCB4, ATP8B1
21hellp syndrome30.2SLC17A5, GPT
22obesity30.1AHSG, SLC17A5, NR1I3, GPT, NR1H4
23breast cancer30.1ABCB4, NR1H4, NR1I3, NR1I2, ABCC2, ABCB11
24hepatocellular carcinoma29.9ABCB4, ABCC2, GPT, AHSG, NR1I2, SLC17A5
25citrullinemia, type ii, neonatal-onset10.7
26amyloidosis10.6
27cholestasis, benign recurrent intrahepatic, 210.5
28pancreatitis10.5
29cholestasis, intrahepatic, of pregnancy, 110.5
30hydrocephalus10.4
31eclampsia10.4
32sickle cell disease10.4
33neonatal intrahepatic cholestasis due to citrin deficiency10.4
34cerebritis10.3
35aneurysm10.3
36hepatitis c virus10.3
37sickle cell anemia10.3
38bile acid synthesis defect, congenital, 110.3
39pheochromocytoma10.3
40cholestasis, intrahepatic, of pregnancy, 310.3
41cholestasis, progressive familial intrahepatic 410.3
42multiple myeloma10.3
43adenocarcinoma10.3
44hyperthyroidism10.3
45myeloma10.3
46pre-eclampsia10.3
47al amyloidosis10.3
48atp8b1-related intrahepatic cholestasis10.3
49abcb11-related intrahepatic cholestasis10.3
50hypoxia10.3

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



Diseases related to intrahepatic cholestasis

Symptoms for Intrahepatic Cholestasis

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Drugs & Therapeutics for Intrahepatic Cholestasis

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Drug clinical trials:

Search ClinicalTrials for Intrahepatic Cholestasis

Search NIH Clinical Center for Intrahepatic Cholestasis

Genetic Tests for Intrahepatic Cholestasis

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Genetic tests related to Intrahepatic Cholestasis:

id Genetic test Affiliating Genes
1 Cholestasis, Familial Intrahepatic, of Pregnancy22 ABCB4

Anatomical Context for Intrahepatic Cholestasis

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MalaCards organs/tissues related to Intrahepatic Cholestasis:

33
Liver, Placenta, Testes, Bone, Heart, Smooth muscle, Small intestine, Colon, Breast, Appendix, Neutrophil

Animal Models for Intrahepatic Cholestasis or affiliated genes

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MGI Mouse Phenotypes related to Intrahepatic Cholestasis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.0ABCB11, ATP8B1, AHSG, NR1I3, NR1H4, SLC17A5
2MP:00053707.0ABCB4, ABCB11, ABCC2, ATP8B1, NR1I2, NR1I3
3MP:00053765.9SLC25A13, F2, ABCB4, ABCB11, ABCC2, ATP8B1

Publications for Intrahepatic Cholestasis

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Articles related to Intrahepatic Cholestasis:

(show top 50)    (show all 692)
idTitleAuthorsYear
1
Acute fatty liver of pregnancy with hypoglycaemia, diabetes insipidus and pancreatitis, preceded by intrahepatic cholestasis of pregnancy. (25878236)
2015
2
Intrahepatic cholestasis of pregnancy: maternal and fetal outcomes associated with elevated bile acid levels. (25818669)
2015
3
Placental gene-expression profiles of intrahepatic cholestasis of pregnancy reveal involvement of multiple molecular pathways in blood vessel formation and inflammation. (25001852)
2014
4
Effect of taurocholic acid on fetoplacental arterial pressures in a dual perfusion placental cotyledon model: a novel approach to intrahepatic cholestasis of pregnancy. (25098026)
2014
5
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice. (24991443)
2014
6
Intrahepatic Cholestasis of Pregnancy: mRNAs for LIPF and ELOVL4 Genes Are Not Detectable in Circulating Maternal Plasma. (25059952)
2014
7
Fetal complications due to intrahepatic cholestasis of pregnancy. (25153210)
2014
8
Ursodeoxycholic acid in the treatment of intrahepatic cholestasis of pregnancy: a randomized controlled trial. (23978872)
2013
9
Clinical grading of intrahepatic cholestasis pregnancy. (24362672)
2013
10
Primary bile acids as potential biomarkers for the clinical grading of intrahepatic cholestasis of pregnancy. (23562588)
2013
11
Heptral (ademetionine) in patients with intrahepatic cholestasis in chronic liver disease due to non-alcoholic liver disease: results of a multicentre observational study in India. (25154164)
2013
12
Study on the regulation of cell adhesion molecule expression and function in placenta from women with intrahepatic cholestasis of pregnancy. (23810461)
2013
13
Orthotopic liver transplantation in a pediatric patient with progressive intrahepatic cholestasis: a coordinated perioperative subspecialty approach. (21603342)
2011
14
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. (21119540)
2011
15
SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. (21507300)
2011
16
Acute intrahepatic cholestasis accompanied with Chlamydophila pneumoniae infection. (21424938)
2011
17
Pancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis. (20226067)
2010
18
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. (20614727)
2010
19
Progressive familial intrahepatic cholestasis. (21134824)
2010
20
Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. (19490418)
2009
21
Liver transplantation for progressive familial intrahepatic cholestasis: the evolving role of genotyping. (19479788)
2009
22
SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids]. (18578996)
2008
23
Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. (18083082)
2008
24
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
25
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. (17706492)
2007
26
Clinical and experimental study on wuling pill in treating gestation period intrahepatic cholestasis]. (16548349)
2006
27
Necrotizing hepatitis and intrahepatic cholestasis associated to Cryptococcus sp. and Pneumocystis carinii. (17151583)
2006
28
Association between polymorphisms of CYP17 and CYP3A4 genes and intrahepatic cholestasis of pregnancy in Chengdu]. (16909599)
2006
29
Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. (16458994)
2006
30
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. (16613706)
2006
31
Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet. (16363353)
2005
32
Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. (16235123)
2005
33
Intrahepatic cholestasis of pregnancy: Relationships between bile acid levels and fetal complication rates. (15368452)
2004
34
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
35
Intrahepatic cholestasis after liver transplantation. (14607733)
2002
36
Intrahepatic cholestasis of pregnancy: review of the literature. (11773831)
2002
37
Ursodeoxycholic acid for the treatment of intrahepatic cholestasis of pregnancy. (11392594)
2001
38
HLA-A33/B44/DR6 is highly related to intrahepatic cholestasis induced by tiopronin. (10877223)
2000
39
Oral guar gum, a gel-forming dietary fiber relieves pruritus in intrahepatic cholestasis of pregnancy. (10746839)
2000
40
Intrahepatic cholestasis of pregnancy has no effect on maternal serum second trimester alpha-fetoprotein and hCG. (10929953)
2000
41
Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. (10487283)
1999
42
The ultrasonographic 'triangular cord' coupled with gallbladder images in the diagnostic prediction of biliary atresia from infantile intrahepatic cholestasis. (10591576)
1999
43
Intrahepatic cholestasis related to vanishing bile duct syndrome in Hodgkin's disease. (9144127)
1997
44
Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. (8855752)
1996
45
Intrahepatic cholestasis without hepatitis induced by amoxycillin/clavulanic acid. (8877644)
1996
46
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. (7894490)
1994
47
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. (1639361)
1992
48
Intrahepatic cholestasis of pregnancy and acute fatty liver of pregnancy. An unusual but favorable association? (2001812)
1991
49
Familial recurrent intrahepatic cholestasis of pregnancy: a genetic study providing evidence for transmission of a sex-limited, dominant trait. (6852450)
1983
50
Bile acid metabolism in benign recurrent intrahepatic cholestasis. Comparative studies on the icteric and anicteric phases of a single case. (437403)
1979

Variations for Intrahepatic Cholestasis

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Clinvar genetic disease variations for Intrahepatic Cholestasis:

7
id Gene Variation Type Significance SNP ID Assembly Location
1ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)single nucleotide variantPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
2ABCB4NM_018849.2(ABCB4): c.1712delT (p.Val571Aspfs)deletionPathogenicrs387906527GRCh37Chr 7, 87069002: 87069002
3ABCB4NM_018849.2(ABCB4): c.1637C> A (p.Ala546Asp)single nucleotide variantPathogenicrs121918441GRCh37Chr 7, 87069077: 87069077
4ABCB4NM_018849.2(ABCB4): c.959C> T (p.Ser320Phe)single nucleotide variantPathogenicrs72552778GRCh37Chr 7, 87076396: 87076396
5ABCB4NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs)indelPathogenicrs387906528GRCh37Chr 7, 87072662: 87072663
6ABCB4NM_018849.2(ABCB4): c.430C> T (p.Arg144Ter)single nucleotide variantPathogenicrs72552780GRCh37Chr 7, 87082366: 87082366
7ABCB4NM_018849.2(ABCB4): c.1769G> A (p.Arg590Gln)single nucleotide variantPathogenicrs45575636GRCh37Chr 7, 87060844: 87060844
8ATP8B1NM_005603.4(ATP8B1): c.208G> A (p.Asp70Asn)single nucleotide variantPathogenicrs34719006GRCh37Chr 18, 55373793: 55373793
9NM_005603.4(ATP8B1): c.2599C> T (p.Arg867Cys)single nucleotide variantPathogenicrs121909103GRCh37Chr 18, 55328514: 55328514

Expression for genes affiliated with Intrahepatic Cholestasis

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Search GEO for disease gene expression data for Intrahepatic Cholestasis.

Pathways for genes affiliated with Intrahepatic Cholestasis

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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
Show member pathways
9.7ABCB4, ABCB11, ABCC2
2
Show member pathways
Nuclear Receptors38
9.3NR1H4, NR1I3, NR1I2
39.2NR1I3, NR1I2, ABCC2
4
Show member pathways
9.0ABCC2, NR1I2, SLCO1B3
5
Show member pathways
8.9ABCB4, ABCB11, ABCC2, SLCO1A2
6
Show member pathways
8.8SLCO1B3, SLCO1A2, ABCB11
7
Show member pathways
8.7SLCO1B3, SLCO1A2, ABCC2
88.7ABCB11, ABCC2, NR1I2, NR1I3, NR1H4
98.5NR1H4, NR1I3, NR1I2, ABCC2, ABCB11, ABCB4
10
Show member pathways
8.5ABCB11, ABCC2, SLCO1A2, SLCO1B3
11
Show member pathways
8.2SLCO1B3, SLC17A5, SLCO1A2, ATP8B1, ABCC2
128.0ABCB4, ABCB11, ABCC2, NR1H4, SLCO1A2, SLCO1B3

Compounds for genes affiliated with Intrahepatic Cholestasis

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Compounds related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 220)
idCompoundScoreTop Affiliating Genes
1hepaplastin4510.0SLC17A5, F2, GPT
2wort459.7ABCB11, ABCC2, NR1I2
3lamivudine45 51 1311.6SLC17A5, GPT, ABCC2, F2
4glycocholate459.6ABCB11, GPT, ABCC2, ABCB4, SLC17A5
5androstane459.3NR1I2, NR1I3, NR1H4, ABCC2
6urea45 26 1311.2HLA-G, SLC25A13, ABCC2, GPT, SLC17A5
73a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid269.1SLCO1A2, ABCB11, SLCO1B3
8Allocholic acid269.1SLCO1B3, SLCO1A2, ABCB11
9Allochenodeoxycholic acid269.1ABCB11, SLCO1A2, SLCO1B3
107b,12a-Dihydroxycholanoic acid269.1ABCB11, SLCO1A2, SLCO1B3
11phenytoin45 51 30 1312.1SLC17A5, NR1I3, NR1I2, ABCC2, ABCB11
123b,7a,12a-Trihydroxy-5b-cholanoic acid269.0ABCB11, SLCO1A2, SLCO1B3
13Isohyodeoxycholic acid269.0ABCB11, SLCO1A2, SLCO1B3
14tacrolimus45 51 1311.0ABCB11, SLC17A5, GPT, ABCB4, NR1I2, ABCC2
15Isodeoxycholic acid269.0ABCB11, SLCO1A2, SLCO1B3
16Isoallolithocholic acid269.0ABCB11, SLCO1A2, SLCO1B3
173a,4b,7a-Trihydroxy-5b-cholanoic acid269.0SLCO1A2, SLCO1B3, ABCB11
18deoxycholic acid45 30 26 1311.9NR1H4, SLCO1A2, ABCB11, SLCO1B3
1912a-Hydroxy-3-oxocholadienic acid268.9ABCB11, SLCO1A2, SLCO1B3
20ritonavir45 51 1310.9ABCB11, ABCC2, NR1I2, SLCO1A2
2112-Ketodeoxycholic acid268.9ABCB11, SLCO1A2, SLCO1B3
22ketoconazole45 30 26 1311.9ABCC2, ABCB11, NR1I2, SLCO1A2
23Taurocholic acid26 139.8ABCB11, SLCO1B3, SLCO1A2, ABCC2
24bromosulfophthalein458.8SLCO1B3, SLCO1A2, GPT, ABCC2
251,3,7,12-Tetrahydroxycholan-24-oic acid268.8ABCB11, SLCO1A2, SLCO1B3
263b,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid268.8ABCB11, SLCO1A2, SLCO1B3
27phenobarbital45 30 51 1311.8NR1I3, SLC17A5, GPT, ABCC2, ABCB11, NR1I2
28simvastatin45 51 61 30 26 1313.8ABCC2, GPT, SLCO1A2, SLC17A5, F2
29acetaminophen45 3 51 26 1312.7NR1I2, GPT, F2, NR1I3, SLC17A5, ABCC2
30verapamil45 30 51 26 1312.7SLC17A5, SLCO1A2, GPT, ABCC2, ABCB11, ABCB4
313a,6a,7b-Trihydroxy-5b-cholanoic acid268.7SLCO1B3, ABCB11, SLCO1A2
32pravastatin45 51 30 26 1312.6ABCC2, SLCO1A2, SLCO1B3, ABCB11, GPT
33atorvastatin45 51 30 26 1312.5SLCO1B3, ABCC2, SLCO1A2, SLC17A5, GPT
343b,7a,12a-Trihydroxy-5a-Cholanoic acid268.5ABCB11, SLCO1A2, SLCO1B3
35paclitaxel45 51 1310.4ABCB4, ABCB11, NR1I3, NR1I2, ABCC2, SLCO1B3
36rifampin51 139.4ABCB11, ABCC2, SLCO1A2, SLCO1B3, NR1I2
37rosuvastatin45 51 30 1311.3SLCO1A2, SLCO1B3, ABCC2, GPT, ABCB11, SLC17A5
38taurocholate458.2NR1H4, ABCB4, ABCB11, ABCC2, ATP8B1, SLCO1B3
39estrogen458.1AHSG, F2, ABCB11, ABCC2, NR1I3, NR1H4
40cholic acid45 30 26 1311.1NR1I2, SLCO1B3, SLCO1A2, NR1H4, ABCB11, ABCC2
41lithocholic acid45 30 2610.0NR1I3, ABCB11, SLCO1B3, SLCO1A2, NR1I2, NR1H4
42digoxin45 61 51 26 1311.8SLCO1B3, SLC17A5, SLCO1A2, NR1I2, ABCC2, ABCB11
43lipid457.7NR1I2, NR1I3, NR1H4, SLC17A5, HLA-G, ATP8B1
44dexamethasone45 51 30 1310.7ABCB11, ABCB4, ABCC2, NR1I3, HLA-G, NR1I2
45cyclosporin a45 30 619.7F2, SLCO1B3, SLC17A5, NR1I3, NR1I2, GPT
46rifampicin45 30 619.4SLCO1B3, SLC17A5, ABCB11, ABCC2, GPT, NR1I2
47cholesterol45 30 26 1310.3SLC17A5, NR1H4, NR1I3, NR1I2, GPT, HLA-G
48chenodeoxycholic acid45 30 26 1310.2NR1H4, SLCO1A2, NR1I2, GPT, ABCC2, ABCB4
49methotrexate51 45 139.2NR1I2, GPT, HLA-G, ABCC2, ABCB4, F2
50ursodeoxycholic acid45 26 139.1SLCO1B3, SLC17A5, SLCO1A2, NR1H4, NR1I2, GPT

GO Terms for genes affiliated with Intrahepatic Cholestasis

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Cellular components related to Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:00465819.7ABCC2, ABCB11, ABCB4
2apical plasma membraneGO:00163249.2ABCB4, ABCB11, ABCC2, ATP8B1
3integral component of plasma membraneGO:00058878.2ABCB4, ABCB11, ABCC2, ATP8B1, SLC17A5, SLCO1B3
4plasma membraneGO:00058867.1ABCB4, ABCB11, ABCC2, ATP8B1, HLA-G, SLCO1A2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transportGO:00068109.4SLC25A13, ABCC2, ABCB11, ABCB4
2intracellular receptor signaling pathwayGO:00305229.3NR1I2, NR1I3, NR1H4
3sodium-independent organic anion transportGO:00432529.0SLCO1B3, SLCO1A2
4organic anion transportGO:00157118.9SLCO1A2, SLCO1B3
5bile acid and bile salt transportGO:00157218.7ABCB11, ATP8B1, SLCO1A2, SLCO1B3
6bile acid metabolic processGO:00082068.5SLCO1B3, SLCO1A2, NR1H4, ATP8B1, ABCB11
7transmembrane transportGO:00550857.9ABCB4, ABCB11, ABCC2, ATP8B1, SLCO1A2, SLC17A5
8small molecule metabolic processGO:00442817.7ABCB4, ABCB11, GPT, SLCO1A2, SLCO1B3, SLC25A13

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

idNameGO IDScoreTop Affiliating Genes
1thyroid hormone receptor activityGO:00048879.8NR1H4, NR1I3
2ATPase activity, coupled to transmembrane movement of substancesGO:00426269.6ABCB4, ABCB11, ABCC2
3ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048799.0NR1H4, NR1I3, NR1I2
4organic anion transmembrane transporter activityGO:00085148.7SLCO1B3, SLCO1A2, ABCC2

Products for genes affiliated with Intrahepatic Cholestasis

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Sources for Intrahepatic Cholestasis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet