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:000537611.3GGT1, HSD3B7, ATP8B1, NR1I2, NR1I3, NR1H4
2MP:000537811.2ABCB11, NR1H4, NR1I3, ATP8B1, F2, SLC25A13
3MP:000537010.8HSD3B7, ATP8B1, NR1I2, NR1I3, NR1H4, ABCC2

Publications for Cholestasis

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50PubMed
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Articles related to Cholestasis:

(show top 50)    (show all 1309)
idTitleAuthorsYear
1
Osteopontin is an initial mediator of inflammation and liver injury during obstructive cholestasis after bile duct ligation in mice. (24188933)
2014
2
A comprehensive analysis of common genetic variation around six candidate Loci for intrahepatic cholestasis of pregnancy. (24366234)
2014
3
Cardiovascular abnormalities in obstructive cholestasis: the possible mechanisms. (22520558)
2013
4
IL-17A synergistically enhances bile acid-induced inflammation during obstructive cholestasis. (24012680)
2013
5
Hepatocellular Carcinoma in a Boy with Progressive familial Intrahepatic Cholestasis Type II: Challenging Identification: Case report. (24421753)
2013
6
Obstetric cholestasis: outcome with active management. (23496277)
2013
7
Comparative proteomics analysis of placenta from pregnant women with intrahepatic cholestasis of pregnancy. (24391750)
2013
8
Paucity of biliary ducts: A rare etiology of neonatal cholestasis. (22690284)
2012
9
Damage to mtDNA in liver injury of patients with extrahepatic cholestasis: the protective effects of mitochondrial transcription factor A. (22306509)
2012
10
Low phospholipid-associated cholestasis and cholelithiasis. (23141892)
2012
11
Evaluation of hepatotoxicity and cholestasis in rats treated with EtOH extract of Fructus Psoraleae. (22954498)
2012
12
NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations. (23142591)
2012
13
Biochemical characteristics of neonatal cholestasis induced by citrin deficiency. (23112554)
2012
14
Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings. (21219577)
2011
15
Living-donor liver transplantation for progressive familial intrahepatic cholestasis. (21125272)
2011
16
The influence of common gene variants of the xenobiotic receptor (PXR) in genetic susceptibility to intrahepatic cholestasis of pregnancy. (19958310)
2010
17
Immunologic abnormality of intrahepatic cholestasis of pregnancy. (20085564)
2010
18
ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase. (19845854)
2010
19
Clusterin expression in cholestasis, hepatocellular carcinoma and liver fibrosis. (19413638)
2009
20
Minimal role of hepatic transporters in the hepatoprotection against LCA-induced intrahepatic cholestasis. (18032408)
2008
21
Severe acute cholestatic hepatitis with prolonged cholestasis and bile-duct injury following atorvastatin therapy: a case report. (19198578)
2008
22
Extrahepatic cholestasis downregulates Oatp1 by TNF-alpha signalling without affecting Oatp2 and Oatp4 expression and sodium-independent bile salt uptake in rat liver. (17845533)
2007
23
Multiple protective effects of melatonin against maternal cholestasis-induced oxidative stress and apoptosis in the rat fetal liver-placenta-maternal liver trio. (17645691)
2007
24
A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis. (16868810)
2006
25
Ursodeoxycholic acid therapy for intractable total parenteral nutrition-associated cholestasis in surgical very low birth weight infants. (16435058)
2006
26
Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. (15341767)
2004
27
Intrahepatic cholestasis after liver transplantation. (14607733)
2002
28
Familial intrahepatic cholestasis 1: studies of localization and function. (11584374)
2001
29
Intrahepatic cholestasis of pregnancy has no effect on maternal serum second trimester alpha-fetoprotein and hCG. (10929953)
2000
30
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. (11146465)
2000
31
Urinary bile alcohol profile in infants with intrahepatic cholestasis: identification of 5beta-cholestane-3alpha,7alpha,24,25-tetrol. (10565453)
1999
32
Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. (9918928)
1999
33
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. (9419367)
1998
34
Progressive familial intrahepatic cholestasis among the Arab population in Israel. (9161950)
1997
35
Extrahepatic cholestasis attributable to tuberculous adenitis. (9149224)
1997
36
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. (7894490)
1994
37
Intrahepatic cholestasis of pregnancy: a retrospective case-control study of perinatal outcome. (8141222)
1994
38
Low Gamma-GT Familial Intrahepatic Cholestasis (20301474)
1993
39
Essential fatty acid deficiency mimicking porphyria cutanea tarda in a patient with chronic cholestasis. (2303977)
1990
40
Extrahepatic cholestasis as a distinct factor predisposing to gentamicin nephrotoxicity. (2240001)
1990
41
Benign recurrent intrahepatic cholestasis. A clinico-pathologic study. (2356403)
1990
42
Benign recurrent intrahepatic cholestasis: a long-term follow-up study of two patients. (2925156)
1989
43
Altered metabolism of bile alcohol and bile acid in complete extrahepatic cholestasis: qualitative and quantitative aspects. (3655557)
1987
44
Intrahepatic cholestasis of pregnancy and its complications. Analysis of 100 cases in Chongqing area. (3105974)
1986
45
Cholestasis and hypermethioninemia during dietary management of hereditary tyrosinemia type 1. (2872285)
1986
46
Mechanisms underlying the prolonged duration of action of muscle relaxants caused by extrahepatic cholestasis. (6110432)
1981
47
Ribosomal protein modifications in liver injury: effect of carbon tetrachloride and extrahepatic cholestasis on protein phosphorylation. (7373235)
1980
48
Serum alkaline phosphatase and transaminases in prolonged extrahepatic cholestasis in rabbits and rats. (5842153)
1965
49
Disturbances of hydration of cells of rat liver in extrahepatic cholestasis. (13983742)
1962
50
Peliosis hepatis and cholestasis following administration of norethandrolone. (13851171)
1960

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
10.9GPT, ABCB11, ABCC1, ABCB4, SLC25A13, SLC10A2
210.9ABCB4, ABCB11, ABCC2, NR1H4, NR1I3, NR1I2
310.9NR1H4, ABCC2, ABCB11, ABCB4, SLC10A2, SLC4A2
410.8NR1I2, NR1I3, NR1H4, ABCC2, ABCB11
5
Hide members
10.8ATP8B1, ABCC2, ABCC1, SLC4A2, SLC17A5
6
Hide members
10.7ABCC2, ABCB11, ABCC1, ABCB4
710.7ABCB4, ABCB11, ABCC2
8
Hide members
10.7HSD3B7, ABCB11, SLC10A2
9
Hide members
10.7ABCC1, ABCB11, ABCC2
10
Hide members
10.7NR1I2, ABCC2, ABCC1
1110.7ABCC2, NR1I3, NR1I2
12
Hide members
10.7NR1I2, NR1I3, NR1H4
1310.7SLC4A2, NR1H4, NR1I2
1410.7SLC4A2, NR1I3, NR1I2
15
Hide members
10.6ABCC1, ABCC2
1610.6ABCC1, NR1I2

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:00588710.9ATP8B1, ABCC2, ABCB11, ABCC1, ABCB4, SLC25A13
2membraneGO:01602010.9GGT1, SLC17A5, SLC4A2, ABCB4, ABCC1, ABCB11
3intercellular canaliculusGO:04658110.7ABCB4, ABCB11, ABCC2
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:05508511.1ATP8B1, ABCC2, ABCB11, ABCC1, ABCB4, SLC4A2
2transportGO:00681011.0ABCC2, ABCB11, ABCC1, ABCB4, SLC25A13, SLC10A2
3bile acid metabolic processGO:00820611.0SLC10A2, ABCB11, NR1H4, ATP8B1, 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
7glutathione biosynthetic processGO:00675010.6GGT1, GGT3P
8anion transportGO:00682010.5SLC4A2, SLC17A5
9leukotriene metabolic processGO:00669110.3GGT1, ABCC1

Molecular functions related to Cholestasis according to GeneCards/GeneDecks:

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

Products for genes affiliated with Cholestasis

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  • Antibodies
  • Proteins
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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