MCID: CHL068
MIFTS: 63

Cholestasis malady

Gastrointestinal diseases, Cardiovascular diseases, Liver diseases categories

Summaries for Cholestasis

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63Wikipedia, 32MalaCards
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Wikipedia:63 In medicine, cholestasis is a condition where bile cannot flow from the liver to the duodenum. The two... more...

MalaCards: Cholestasis, also known as obstruction of bile duct nos, is related to intrahepatic cholestasis and extrahepatic cholestasis. An important gene associated with Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Metabolism and Nuclear receptors in lipid metabolism and toxicity. The compounds lipid and ursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and testes, and related mouse phenotypes are homeostasis/metabolism and growth/size.

Aliases & Classifications for Cholestasis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 27ICD9CM, 25ICD10
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Classifications:



Aliases & Descriptions:

cholestasis 8 10 44 60
obstruction of bile duct nos 8
cardiovascular occlusion 60
obstruction of bile duct 8
occlusion of bile duct 8
bile duct obstruction 44
bile occlusion 8


External Ids:

Disease Ontology8 DOID:13580
MeSH34 D002779
NCIt39 C83006
ICD9CM27 576.2
ICD1025 K83.1

Related Diseases for Cholestasis

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17GeneCards, 18GeneDecks
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Diseases related to Cholestasis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 301)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis31.7SLC25A13
2extrahepatic cholestasis31.2ABCC2, ABCC1, GGT1
3hepatitis31.1GPT, SLC17A5
4cholestasis, progressive familial intrahepatic 130.8GGT1, SLC10A2, ABCB4, ABCB11, NR1H4, ATP8B1
5citrin deficiency30.7SLC25A13
6benign recurrent intrahepatic cholestasis30.7ABCB11, ATP8B1
7hepatitis a30.6F2
8biliary atresia30.5ATP8B1, NR1H4, GGT1, SLC10A2, SLC25A13, GPT
9alagille syndrome30.5ATP8B1, ABCB4
10pancreatitis30.4ABCB4, SLC17A5, GGT1
11cholestasis, progressive familial intrahepatic 330.4ABCB4, ATP8B1, ABCB11
12cholelithiasis30.3GGT1, GPT, ABCB11, ABCB4
13cholestasis, progressive familial intrahepatic 230.3ABCB4, ABCB11, ATP8B1
14primary sclerosing cholangitis30.3ABCB4, NR1I2, GPT, ABCC2, GGT1
15dubin-johnson syndrome30.2ABCC2, ABCC1
16hepatocellular carcinoma30.2ABCB4, F2, SLC25A13, ABCC1, NR1I2, SLC17A5
17hepatitis c30.1ABCC2, SLC17A5, F2, GGT1, GPT
18viral hepatitis30.1GGT1, GPT, SLC17A5, F2
19cholangitis30.1GGT1, SLC17A5, ABCB4, GPT
20galactosemia30.1GPT, F2, SLC17A5, GGT1
21cystic fibrosis30.1ABCC2, ABCB11, ABCC1
22primary biliary cirrhosis30.0GPT, ABCC2, ABCB11, NR1H4, ABCB4, F2
23choledocholithiasis30.0GPT, SLC17A5, GGT1
24fatty liver disease30.0GGT1
25low gamma-gt familial intrahepatic cholestasis30.0ABCB11, ATP8B1
26cholangiocarcinoma30.0GGT1
27hyperthyroidism30.0SLC17A5
28alcoholic hepatitis29.9SLC17A5, GPT, F2, GGT1
29autoimmune hepatitis29.9GPT, GGT1, SLC17A5, F2
30adenocarcinoma29.9GGT1, ABCC1, ABCC2, ABCB11
31liver cirrhosis29.8GPT, F2, GGT1, SLC17A5
32obstructive jaundice29.8SLC25A13, GGT1
33cholecystitis29.8GPT
34thrombocytopenia29.8F2, GPT, SLC17A5
35portal hypertension29.6GGT1, SLC17A5, F2, GPT
36obesity29.6NR1H4, NR1I3, GPT, SLC17A5, GGT1
37neonatal hemochromatosis29.6SLC17A5, GGT1, SLC25A13
38acute liver failure29.6GPT, SLC17A5, F2
39colon adenocarcinoma29.6NR1I2, ABCC2, ABCC1
40hepatitis e29.6GPT
41cerebrotendinous xanthomatosis29.6NR1I2, NR1H4
42acute pancreatitis29.6SLC17A5, GPT
43hepatoblastoma29.6NR1H4, ABCC2
44wilson disease29.6SLC17A5, GPT
45opisthorchiasis29.6GGT1
46intrahepatic cholestasis of pregnancy10.5
47liver disease10.4
48arc syndrome10.4
49aagenaes syndrome10.4
50neonatal intrahepatic cholestasis caused by citrin deficiency10.4

Graphical network of the top 20 diseases related to Cholestasis:



Diseases related to cholestasis

Clinical Features for Cholestasis

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Drugs & Therapeutics for Cholestasis

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

Search CenterWatch for Cholestasis

Drug clinical trials:

Search ClinicalTrials for Cholestasis

Search NIH Clinical Center for Cholestasis

Search CenterWatch for Cholestasis

Genetic Tests for Cholestasis

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Anatomical Context for Cholestasis

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32MalaCards
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MalaCards organs/tissues related to Cholestasis:

32
Liver, Placenta, Testes, Bone, Kidney, Pituitary, Breast, Colon, Brain, Lung, Thyroid, Appendix, Fetal lung, Fetal liver, Endothelial, T cells, Heart, Skin, Smooth muscle, Bone marrow

Animal Models for Cholestasis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cholestasis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537611.3ABCC1, SLC4A2, SLC10A2, SLC25A13, F2, ABCB4
2MP:000537811.2SLC17A5, SLC4A2, SLC10A2, SLC25A13, F2, ABCB11
3MP:000537010.8SLC10A2, ATP8B1, NR1I2, NR1I3, NR1H4, ABCB11

Publications for Cholestasis

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50PubMed
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Articles related to Cholestasis:

(show top 50)    (show all 1309)
idTitleAuthorsYear
1
Spontaneous spinal epidural hematoma in a teenage boy with cholestasis: a case report. (23546431)
2013
2
Coenzyme Q in pregnant women and rats with intrahepatic cholestasis. (24118985)
2013
3
Mastabol induced acute cholestasis: A case report. (23556046)
2013
4
Severe cholestasis due to disseminated histoplasmosis under adalimumab-containing immunosuppressive therapy. (23663920)
2013
5
Serum alpha-fetoprotein levels in neonatal cholestasis. (24192674)
2013
6
An unusual case of neonatal cholestasis. (23422579)
2013
7
Churg-Strauss syndrome manifesting as cholestasis and diagnosed by liver biopsy. (22882337)
2012
8
In silico identification of potential cholestasis-inducing agents via modeling of Na(+)-dependent taurocholate cotransporting polypeptide substrate specificity. (22641618)
2012
9
Drug-induced cholestasis. (21480339)
2011
10
Omega-3-enriched lipid emulsion for liver salvage in parenteral nutrition-induced cholestasis in the adult patient. (21527601)
2011
11
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome. (21851503)
2011
12
Surgical intervention in the setting of parenteral nutrition-associated cholestasis may exacerbate liver injury. (21238652)
2011
13
Modification of hepatic iron metabolism induced by pravastatin during obstructive cholestasis in rats. (21925516)
2011
14
Role of nuclear receptors for bile acid metabolism, bile secretion, cholestasis, and gallstone disease. (21194565)
2011
15
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. (20614727)
2010
16
Corticotropin-releasing hormone receptors mediate opposing effects in cholestasis-induced liver cell apoptosis. (20189999)
2010
17
High mean platelet volume, low-grade systemic coagulation, and fibrinolytic activation are associated with pre-term delivery and low APGAR score in intrahepatic cholestasis of pregnancy. (20670095)
2010
18
Hydrolysed formula is a risk factor for vitamin K deficiency in infants with unrecognised cholestasis. (21057325)
2010
19
The c.504T>C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece. (19840247)
2010
20
Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (20376801)
2010
21
Altered gene profile of placenta from women with intrahepatic cholestasis of pregnancy. (19565256)
2010
22
Genetic cholestasis]. (19753442)
2009
23
Reduced antidiabetic effect of metformin and down-regulation of hepatic Oct1 in rats with ethynylestradiol-induced cholestasis. (19002567)
2009
24
Update on progressive familial intrahepatic cholestasis. (18376240)
2008
25
Altered expression and distribution of aquaporin-9 in the liver of rat with obstructive extrahepatic cholestasis. (18669624)
2008
26
Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy. (18395921)
2008
27
Azithromycin may reduce cholestasis in primary sclerosing cholangitis: a case report and serendipitous observation. (18179759)
2007
28
Pyloric obstruction, duodenal dilatation, and extrahepatic cholestasis: a neonatal triad suggesting multiple intestinal atresias. (17011287)
2006
29
Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. (16235123)
2005
30
Intrahepatic cholestasis: summary of an American Association for the Study of Liver Diseases single-topic conference. (15898074)
2005
31
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. (15542392)
2004
32
Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. (14517804)
2003
33
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. (12424587)
2002
34
BSEP: function and role in progressive familial intrahepatic cholestasis. (11745042)
2001
35
Persistent inflammation and immune activation contribute to cholestasis in patients receiving home parenteral nutrition. (11369168)
2001
36
Early shifts of adrenal steroid synthesis before and after relief of short-term cholestasis. (11592593)
2001
37
Bile acids and progesterone metabolites in intrahepatic cholestasis of pregnancy. (10766400)
2000
38
Recurrent familial intrahepatic cholestasis in the Faroe Islands]. (10778315)
1999
39
Cracking the genetic code for benign recurrent and progressive familial intrahepatic cholestasis. (9722216)
1998
40
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64. (9272159)
1997
41
Ultrastructural sinusoidal changes in extrahepatic cholestasis. Light and electron microscopic immunohistochemical localization of collagen type III and type IV. (8863856)
1996
42
Electron microscopic investigation on Ito cells and Disse's space in patients with extrahepatic cholestasis. Immunohistochemistry of collagen type IV and fibronectin in hepatic sinusoids. (8705781)
1996
43
Alterations in bilirubin metabolism during extra- and intrahepatic cholestasis. (1600331)
1992
44
Endosonography: promising method for diagnosis of extrahepatic cholestasis. (2572911)
1989
45
Benign recurrent intrahepatic cholestasis. A report of 26 cases. (2794432)
1989
46
Bile acid conjugates present in tissues during extrahepatic cholestasis. (3775239)
1986
47
Uneven distribution of enzymatic alterations on the liver cell surface in experimental extrahepatic cholestasis of rat. (145951)
1978
48
Benign recurrent intrahepatic cholestasis. (5545916)
1971
49
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. (5762004)
1969
50
THE GLYCOGEN CONTENT OF THE HUMAN LIVER IN EXTRAHEPATIC CHOLESTASIS. (14175138)
1964

Genetic Variations for Cholestasis

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Expression for genes affiliated with Cholestasis

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

Search GEO for disease gene expression data for Cholestasis.

Pathways for genes affiliated with Cholestasis

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.9SLC10A2, SLC25A13, ABCB4, ABCC1, GGT1, ABCB11
210.9NR1I3, NR1I2, NR1H4, ABCC2, ABCB4, ABCB11
310.9SLC10A2, ABCB4, ABCB11, ABCC2, NR1H4, SLC4A2
410.8ABCB11, NR1I2, NR1I3, NR1H4, ABCC2
5
Hide members
10.8ATP8B1, SLC17A5, SLC4A2, ABCC1, ABCC2
6
Hide members
10.7ABCC1, ABCB4, ABCC2, ABCB11
710.7ABCC2, ABCB11, ABCB4
8
Hide members
10.7HSD3B7, SLC10A2, ABCB11
9
Hide members
10.7ABCC1, ABCB11, ABCC2
10
Hide members
10.7ABCC2, ABCC1, NR1I2
1110.7NR1I2, ABCC2, NR1I3
12
Hide members
10.7NR1I3, NR1H4, NR1I2
1310.7NR1H4, SLC4A2, NR1I2
1410.7NR1I3, SLC4A2, NR1I2
15
Hide members
10.6ABCC2, ABCC1
1610.6NR1I2, ABCC1

Compounds for genes affiliated with Cholestasis

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

(show top 50)    (show all 181)
idCompoundScoreTop Affiliating Genes
1lipid4411.6ABCC2, ABCB4, ATP8B1, GGT1, SLC17A5, SLC10A2
2ursodeoxycholic acid44 11 2413.6F2, SLC17A5, GGT1, ABCB4, ABCB11, ABCC2
3cholesterol44 28 11 2414.5ABCB4, NR1I3, SLC10A2, SLC17A5, GGT1, NR1I2
4cyclosporin a44 28 5913.5F2, NR1I2, NR1I3, GPT, ABCC2, SLC17A5
5rifampicin44 28 5913.4GPT, GGT1, SLC17A5, ABCC1, NR1I2, NR1I3
6chenodeoxycholic acid44 28 11 2414.4ABCB11, ABCC2, SLC10A2, GPT, NR1H4, NR1I3
7phenobarbital44 28 1113.4GGT1, SLC17A5, ABCC1, NR1I2, ABCB11, ABCC2
8methotrexate44 49 1113.4NR1I2, GGT1, SLC17A5, F2, ABCB4, ABCC1
9taurocholate4411.4ATP8B1, ABCB4, ABCC1, ABCB11, ABCC2, SLC10A2
10acetaminophen44 2 49 11 2415.4GPT, GGT1, NR1I2, NR1I3, SLC17A5, F2
11verapamil44 49 28 11 2415.4GPT, ABCC2, SLC17A5, ABCB4, ABCB11, GGT1
12tacrolimus44 49 1113.3GPT, SLC17A5, GGT1, NR1I2, ABCB4, ABCB11
13glycocholate4411.3GPT, ABCC2, ABCB11, ABCB4, SLC17A5, ABCC1
14digoxin44 49 59 11 2415.3ABCC1, NR1I2, ABCC2, SLC17A5, ABCB11, F2
15cholic acid44 28 11 2414.3ABCC1, ABCB11, ABCC2, NR1H4, NR1I2, SLC10A2
16phenytoin44 49 28 1114.3SLC17A5, ABCB11, ABCC2, NR1I3, NR1I2, GGT1
17dexamethasone44 49 28 1114.2NR1I3, ABCC2, ABCB4, SLC10A2, NR1I2, GGT1
18lithocholic acid44 28 2413.2NR1I3, ABCB11, SLC10A2, NR1I2, NR1H4
19rosuvastatin44 49 28 1114.2GPT, ABCC2, ABCB11, ABCC1, SLC17A5
20lamivudine44 1112.2SLC17A5, F2, ABCC1, ABCC2, GPT
21colchicine59 44 2 28 1115.2NR1I3, NR1I2, ABCB11, ABCC1, ABCB4
22tamoxifen44 49 28 1114.2GGT1, SLC17A5, F2, NR1I2, ABCC2, ABCB11
23adefovir4411.1ABCC1, SLC17A5, GPT, ABCC2
24atorvastatin44 49 28 11 2415.1GPT, ABCC2, ABCC1, SLC10A2, SLC17A5
25rhodamine 12344 4912.1ABCB4, ABCC2, ABCB11, ABCC1
26aminopyrine4411.1F2, GPT, GGT1, SLC17A5
27cyclosporine49 1112.1ABCC2, ABCB11, ABCC1, SLC10A2
28Taurocholic Acid11 2412.1SLC10A2, ABCC2, ABCB11, ABCC1
29rifampin49 1112.1ABCC1, ABCB11, ABCC2, NR1I2
30urea44 11 2413.1GPT, SLC25A13, SLC17A5, ABCC2, GGT1
31sodium44 2412.1NR1H4, SLC10A2, SLC4A2, NR1I3
32gf 1209184411.0ABCC2, ABCB11, ABCC1
33androstane4411.0ABCC2, NR1H4, NR1I3, NR1I2
34ly3359794411.0ABCC2, ABCC1, ABCB11
35psc-8334411.0ABCC1, ABCB11, ABCC2
36bezafibrate44 28 1113.0GGT1, GPT, SLC17A5, ABCB4
37hepaplastin4411.0F2, SLC17A5, GPT
38phosphorus4411.0GPT, SLC17A5, NR1I3, GGT1
39wort4411.0ABCB11, NR1I2, ABCC2
40paclitaxel44 49 1112.9NR1I3, ABCC1, ABCC2
41estradiol-17beta-glucuronide4410.9ABCB4, ABCC1, ABCC2
42silymarin4410.9GPT, F2, SLC17A5, GGT1
43gw 406444 5911.9NR1I2, ABCC2, NR1H4
44ethinyl estradiol49 1111.8ABCC2, ABCB11, NR1I2
45ritonavir44 49 1112.8ABCB11, ABCC1, NR1I2, ABCC2
46daunorubicin44 49 1112.7ABCC2, ABCB4, ABCC1, ABCB11
47hyperforin44 28 1112.7ABCC2, NR1I2, NR1I3
48carbamazepine44 49 1112.7SLC17A5, ABCC2, NR1I2, GGT1
49arsenite44 2411.7ABCC1, ABCC2, NR1I2, GGT1, SLC4A2
50tenofovir44 49 1112.4GPT, ABCC2, SLC17A5

GO Terms for genes affiliated with Cholestasis

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

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.9SLC17A5, ATP8B1, ABCC2, ABCB11, ABCC1, SLC10A2
2membraneGO:01602010.9ABCB11, ABCC1, SLC4A2, SLC17A5, GGT1, ABCB4
3intercellular canaliculusGO:04658110.7ABCC2, ABCB11, ABCB4
4apical plasma membraneGO:01632410.5ATP8B1, ABCC2, ABCB11, ABCB4, SLC10A2

Biological processes related to Cholestasis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:05508511.1ABCB4, ATP8B1, SLC17A5, ABCC1, ABCB11, ABCC2
2transportGO:00681011.0ABCC2, ABCB11, ABCC1, ABCB4, SLC25A13, SLC10A2
3bile acid metabolic processGO:00820611.0ATP8B1, SLC10A2, ABCB11, NR1H4, HSD3B7
4small molecule metabolic processGO:04428111.0HSD3B7, GPT, ABCB11, ABCC1, ABCB4, SLC25A13
5bile acid and bile salt transportGO:01572110.8ATP8B1, ABCB11, SLC10A2
6intracellular receptor signaling pathwayGO:03052210.7NR1H4, NR1I3, NR1I2
7leukotriene metabolic processGO:00669110.6ABCC1, GGT1
8anion transportGO:00682010.5SLC17A5, SLC4A2
9glutathione biosynthetic processGO:00675010.3GGT3P, GGT1

Molecular functions related to Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:04262610.8ABCC2, ABCB11, ABCC1, ABCB4
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00487910.7NR1H4, NR1I3, NR1I2
3gamma-glutamyltransferase activityGO:00384010.6GGT3P, GGT1
4glutathione hydrolase activityGO:03637410.5GGT1, GGT3P
5thyroid hormone receptor activityGO:00488710.3NR1I3, NR1H4

Products for genes affiliated with Cholestasis

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  • Antibodies
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Sources for 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