BRIC
MCID: BNG049
MIFTS: 54

Benign Recurrent Intrahepatic Cholestasis (BRIC) malady

Genetic diseases, Liver diseases, Rare diseases, Gastrointestinal diseases categories

Summaries for Benign Recurrent Intrahepatic Cholestasis

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.

MalaCards: Benign Recurrent Intrahepatic Cholestasis, also known as cholestasis, benign recurrent intrahepatic, is related to intrahepatic cholestasis and cholestasis, and has symptoms including hepatic/liver neoplasm/tumor/carcinoma/cancer, pancreatitis and cirrhosis. An important gene associated with Benign Recurrent Intrahepatic Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Lipoprotein metabolism and Statin Pathway. The compounds taurocholate and rosuvastatin have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:48 243300,605479

Aliases & Classifications for Benign Recurrent Intrahepatic Cholestasis

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50Orphanet, 63UMLS, 22Genetics Home Reference, 48OMIM, 46Novoseek, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
benign recurrent intrahepatic cholestasis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

benign recurrent intrahepatic cholestasis 22 50 63
cholestasis, benign recurrent intrahepatic 48 46
bric 22 50
benign recurrent intrahepatic cholestasis type 1 50
low gamma-gt familial intrahepatic cholestasis 22
cholestasis, benign recurrent intrahepatic 1 63
recurrent familial intrahepatic cholestasis 22
abcb11-related intrahepatic cholestasis 22
atp8b1-related intrahepatic cholestasis 22
summerskill-walshe-tygstrup syndrome 50
progressive intrahepatic cholestasis 63
bric type 1 50
bric1 50


External Ids:

ICD10 via Orphanet27 K83.1
SNOMED-CT via Orphanet60 31155007
UMLS via Orphanet64 C0149841, C1855731
MESH via Orphanet37 C535930

Related Diseases for Benign Recurrent Intrahepatic Cholestasis

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18GeneCards, 19GeneDecks
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Diseases in the Benign Recurrent Intrahepatic Cholestasis family:

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

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis31.8GGT3P, ATP8B1, ABCB11
2cholestasis31.6LCAT, CETP, LIPC, ATP8B1, ABCB11
3low gamma-gt familial intrahepatic cholestasis31.1ABCB11, ATP8B1
4cholestasis, progressive familial intrahepatic 130.7ATP8B1, ABCB11
5obesity30.3LCAT, CETP, LIPC
6benign recurrent intrahepatic cholestasis 210.6
7benign recurrent intrahepatic cholestasis 110.6
8atp8b1-related intrahepatic cholestasis10.5
9abcb11-related intrahepatic cholestasis10.5
10intrahepatic cholestasis of pregnancy10.5
11retinitis pigmentosa10.3
12hepatitis10.3
13retinitis10.3
14pulmonary function10.3
15cholestasis, progressive familial intrahepatic 210.1ATP8B1, ABCB11
16cholestasis, progressive familial intrahepatic 310.1ATP8B1, ABCB11
17hyperlipidemia type 310.0CETP, LIPC
18coronary stenosis10.0CETP, LIPC
19lateral sclerosis10.0
20amyotrophic lateral sclerosis10.0
21cervicitis10.0
22brain injury10.0
23alagille syndrome10.0LCAT, ATP8B1
24abetalipoproteinemia10.0LCAT, CETP
25tangier disease10.0LCAT, CETP
26galactosemia10.0LCAT, ATP8B1, ABCB11
27glucose intolerance10.0CETP, LIPC
28uremia10.0LIPC, LCAT
29hyperalphalipoproteinemia9.9LCAT, CETP, LIPC
30hypoalphalipoproteinemia9.9LCAT, CETP, LIPC
31familial hypercholesterolemia9.9LIPC, CETP, LCAT
32familial combined hyperlipidemia9.9LCAT, CETP, LIPC
33hypertriglyceridemia9.9LIPC, CETP, LCAT
34familial hyperlipidemia9.9LIPC, CETP, LCAT
35fatty liver disease9.9LCAT, CETP, LIPC
36hypercholesterolemia9.9LIPC, CETP, LCAT
37hyperinsulinism9.9LCAT, CETP, LIPC
38type 1 diabetes mellitus9.9LIPC, CETP, LCAT
39vascular disease9.9LCAT, CETP, LIPC
40coronary artery disease9.9LIPC, CETP, LCAT
41chronic kidney failure9.9LIPC, CETP, LCAT
42type 2 diabetes mellitus9.9LCAT, CETP, LIPC
43myocardial infarction9.9LIPC, CETP, LCAT
44insulin resistance9.9LCAT, CETP, LIPC
45primary hyperoxaluria9.9LIPC, CETP, LCAT
46atherosclerosis9.9LCAT, CETP, LIPC

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



Diseases related to benign recurrent intrahepatic cholestasis

Symptoms for Benign Recurrent Intrahepatic Cholestasis

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

243300

Clinical features from OMIM:

243300,605479

Symptoms:

50 (show all 17)
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • pancreatitis
  • cirrhosis
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • malabsorption/chronic diarrhea/steatorrhea
  • acute abdominal pain/colic
  • hearing loss/hypoacusia/deafness
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • asthenia/fatigue/weakness
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • autosomal recessive inheritance
  • anorexia
  • abnormal colour of the urine/cholic/dark urines
  • abnormal hepatic enzymes/transaminases
  • hepatitis/icterus/cholestasis
  • mucous stools/acholic stools
  • pruritus/itching

Drugs & Therapeutics for Benign Recurrent Intrahepatic Cholestasis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Benign Recurrent Intrahepatic Cholestasis

Drug clinical trials:

Search ClinicalTrials for Benign Recurrent Intrahepatic Cholestasis

Search NIH Clinical Center for Benign Recurrent Intrahepatic Cholestasis

Search CenterWatch for Benign Recurrent Intrahepatic Cholestasis

Genetic Tests for Benign Recurrent Intrahepatic Cholestasis

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Anatomical Context for Benign Recurrent Intrahepatic Cholestasis

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34MalaCards
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MalaCards organs/tissues related to Benign Recurrent Intrahepatic Cholestasis:

34
Liver

Animal Models for Benign Recurrent Intrahepatic Cholestasis or affiliated genes

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Publications for Benign Recurrent Intrahepatic Cholestasis

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53PubMed
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Articles related to Benign Recurrent Intrahepatic Cholestasis:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. (22229830)
2012
2
Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. (21766090)
2011
3
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. (19731236)
2009
4
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. (18379143)
2008
5
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
6
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. (16374853)
2006
7
Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. (16394881)
2006
8
Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. (16736228)
2006
9
Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. (15827452)
2005
10
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. (15300568)
2004
11
Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. (15341767)
2004
12
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. (11867191)
2002
13
Successful clinical application of extracorporal albumin dialysis in a patient with benign recurrent intrahepatic cholestasis (BRIC). (16215886)
2001
14
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. (11146465)
2000
15
Benign recurrent intrahepatic cholestasis. (11291237)
1999
16
Benign recurrent intrahepatic cholestasis in a Saudi child. (10690264)
1999
17
Benign recurrent intrahepatic cholestasis. (9170826)
1997
18
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
19
Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. (8855752)
1996
20
Benign recurrent intrahepatic cholestasis and Byler's disease: one gene, two diseases? (8895021)
1996
21
Benign recurrent intrahepatic cholestasis. (8772982)
1995
22
Benign recurrent intrahepatic cholestasis. Some reflections on a case followed for 20 years. (8539477)
1995
23
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. (7655458)
1995
24
Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. (7677155)
1995
25
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. (7894490)
1994
26
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. (1639361)
1992
27
Failure of ursodeoxycholic acid to prevent a cholestatic episode in a patient with benign recurrent intrahepatic cholestasis: a study of bile acid metabolism. (2050325)
1991
28
Benign recurrent intrahepatic cholestasis. A clinico-pathologic study. (2356403)
1990
29
Benign recurrent intrahepatic cholestasis: failure of S-adenosylmethionine therapy. (2391074)
1990
30
Benign recurrent intrahepatic cholestasis: altered bile acid metabolism. (2744357)
1989
31
Benign recurrent intrahepatic cholestasis. A report of 26 cases. (2794432)
1989
32
Benign recurrent intrahepatic cholestasis: a long-term follow-up study of two patients. (2925156)
1989
33
Benign recurrent intrahepatic cholestasis in a Chinese girl. (2491224)
1989
34
Plasmapheresis: an effective therapy for cholestatic episodes related to benign recurrent intrahepatic cholestasis? (3395056)
1988
35
Benign recurrent intrahepatic cholestasis associated with retinitis pigmentosa. (3338830)
1988
36
Benign recurrent intrahepatic cholestasis. Evidence for an intrinsic abnormality in hepatocyte secretion. (3678736)
1987
37
Benign recurrent intrahepatic cholestasis--25 years of follow-up. (3684838)
1987
38
Benign recurrent intrahepatic cholestasis. (4067969)
1985
39
A case report of benign recurrent intrahepatic cholestasis. (6519416)
1984
40
A distinctive pattern of serum bile acid and bilirubin concentrations in benign recurrent intrahepatic cholestasis. (7250892)
1981
41
Benign recurrent intrahepatic cholestasis: studies of bilirubin kinetics, bile acids, and cholangiography. (7380339)
1980
42
Serum bile acid concentrations in the course of benign recurrent intrahepatic cholestasis. (7259083)
1980
43
Bile acid metabolism in benign recurrent intrahepatic cholestasis. Comparative studies on the icteric and anicteric phases of a single case. (437403)
1979
44
Three cases of benign recurrent intrahepatic cholestasis (Summerskill-Walshe syndrome). (593703)
1977
45
Familial benign recurrent intrahepatic cholestasis. Interrelation with intrahepatic cholestasis of pregnancy and from oral contraceptives? (939378)
1976
46
Is an acute disturbance in hepatic transport of bile-acids the primary cause of cholestasis in benign recurrent intrahepatic cholestasis? (4134960)
1974
47
Benign recurrent intrahepatic cholestasis. (5545916)
1971
48
Benign recurrent intrahepatic cholestasis , with response to cholestyramine. (5831906)
1965
49
Benign recurrent intrahepatic cholestasis. (13976702)
1963
50
Benign recurrent intrahepatic cholestasis. (15445950)
1963

Variations for Benign Recurrent Intrahepatic Cholestasis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Benign Recurrent Intrahepatic Cholestasis:

65
id Symbol AA change Variation ID SNP ID
1ATP8B1p.Ile661ThrVAR_008812rs28939686
2ATP8B1p.Gly892ArgVAR_008813
3ATP8B1p.Gly308AspVAR_043049rs28939685
4ATP8B1p.Ile344PheVAR_043050
5ATP8B1p.Ser453TyrVAR_043056
6ATP8B1p.Asp454GlyVAR_043057
7ATP8B1p.Arg600GlnVAR_043063
8ATP8B1p.Arg600TrpVAR_043064
9ATP8B1p.Arg628TrpVAR_043065
10ATP8B1p.Ile694ThrVAR_043068

Clinvar genetic disease variations for Benign Recurrent Intrahepatic Cholestasis:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1ATP8B1NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter)single nucleotide variantPathogenicrs515726137GRCh37Chr 18, 55336654: 55336654
2ATP8B1NM_005603.4(ATP8B1): c.625C> A (p.Pro209Thr)single nucleotide variantPathogenicrs515726138GRCh38Chr 18, 57697797: 57697797
3ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)single nucleotide variantPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
4NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)single nucleotide variantPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
5ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)single nucleotide variantPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
6ATP8B1NM_005603.4(ATP8B1): c.2097+2T> Csingle nucleotide variantPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
7ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
8ATP8B1ATP8B1, 9-BP DEL, NT2384deletionPathogenic
9ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
10ATP8B1ATP8B1, IVS23AS, C-A, -3single nucleotide variantPathogenic
11ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)single nucleotide variantPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
12ATP8B1NM_005603.4(ATP8B1): c.1804C> T (p.Arg602Ter)single nucleotide variantPathogenicrs121909105GRCh37Chr 18, 55342081: 55342081

Expression for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

Search GEO for disease gene expression data for Benign Recurrent Intrahepatic Cholestasis.

Pathways for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 52PharmGKB
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Pathways related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5LCAT, CETP, LIPC
2
Show member pathways
8.5LCAT, CETP, LIPC

Compounds for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

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Sources:
46Novoseek, 52PharmGKB, 30IUPHAR, 12DrugBank, 25HMDB, 62Tocris Bioscience
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Compounds related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1taurocholate4610.0ABCB11, ATP8B1
2rosuvastatin46 52 30 1212.9CETP, ABCB11
3PC(o-22:0/18:3(6Z,9Z,12Z))259.8LCAT, ATP8B1
4PC(o-20:1(11Z)/20:4(8Z,11Z,14Z,17Z))259.8ATP8B1, LCAT
5PC(o-20:0/22:0)259.8ATP8B1, LCAT
6PC(o-18:1(9Z)/22:0)259.8ATP8B1, LCAT
7PC(o-18:1(9Z)/20:4(8Z,11Z,14Z,17Z))259.8ATP8B1, LCAT
8PC(o-18:1(9Z)/20:1(11Z))259.8ATP8B1, LCAT
9PC(o-22:0/18:3(9Z,12Z,15Z))259.8LCAT, ATP8B1
10torcetrapib469.8LCAT, CETP
11PC(o-24:0/20:4(8Z,11Z,14Z,17Z))259.8ATP8B1, LCAT
12cholesteryl linoleate469.8LCAT, CETP
13psyllium469.8CETP, LCAT
14PC(o-24:0/18:3(9Z,12Z,15Z))259.8ATP8B1, LCAT
15PC(o-22:0/22:3(10Z,13Z,16Z))259.7ATP8B1, LCAT
16PC(o-22:0/20:4(8Z,11Z,14Z,17Z))259.7ATP8B1, LCAT
17p-opc469.7LCAT, CETP
18PC(o-22:0/20:1(11Z))259.7ATP8B1, LCAT
19PC(o-18:1(9Z)/20:0)259.7ATP8B1, LCAT
20PC(o-16:1(9Z)/20:0)259.7LCAT, ATP8B1
21PC(o-16:1(9Z)/18:2(9Z,12Z))259.7ATP8B1, LCAT
22PC(o-16:1(9Z)/18:0)259.7ATP8B1, LCAT
23PC(o-16:1(9Z)/16:1(9Z))259.6ATP8B1, LCAT
24PC(o-14:0/16:1(9Z))259.6ATP8B1, LCAT
25PC(o-14:0/16:0)259.6ATP8B1, LCAT
26PC(o-16:1(9Z)/20:4(8Z,11Z,14Z,17Z))259.6LCAT, ATP8B1
27gemfibrozil30 46 1211.5LIPC, CETP
28PC(o-18:1(9Z)/18:2(9Z,12Z))259.5ATP8B1, LCAT
29dopc469.5LIPC, LCAT
30PC(o-18:1(9Z)/18:1(11Z))259.4ATP8B1, LCAT
31PC(o-16:1(9Z)/22:0)259.4ATP8B1, LCAT
32PC(o-18:1(9Z)/18:0)259.3ATP8B1, LCAT
33pravastatin46 52 30 25 1213.3ABCB11, CETP, LCAT
34PC(o-18:0/18:0)259.1ATP8B1, LCAT
35cyclosporin a46 30 6211.0CETP, LIPC, ABCB11
36cholic acid46 30 25 1212.0LCAT, LIPC, ABCB11
37intralipid469.0CETP, LCAT, LIPC
38probucol46 1210.0LCAT, CETP, LIPC
39cholesterol ester469.0LIPC, LCAT, CETP
40bezafibrate46 30 1211.0LIPC, LCAT, CETP
41triacylglycerol468.9LCAT, CETP, LIPC
42sodium dodecylsulfate468.9LCAT, CETP, LIPC
43atorvastatin46 52 30 25 1212.9LIPC, LCAT, CETP
44sterol468.9LCAT, CETP, LIPC
45phosphatidylcholine468.9CETP, LIPC, LCAT
46vitamin a46 25 1210.9LIPC, CETP, LCAT
47phospholipid468.5LCAT, CETP, ABCB11, LIPC
48estrogen468.4LCAT, ABCB11, LIPC, CETP
49cholesterol46 30 25 1211.1CETP, LIPC, ATP8B1, ABCB11, LCAT
50lipid468.1ABCB11, LCAT, LIPC, ATP8B1, CETP

GO Terms for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

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17Gene Ontology
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Cellular components related to Benign Recurrent Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:0343648.5LCAT, CETP, LIPC

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:0157219.6ABCB11, ATP8B1
2cholesterol transportGO:0303019.4LCAT, CETP
3lipoprotein metabolic processGO:0421579.3LCAT, CETP
4bile acid metabolic processGO:0082069.3ATP8B1, ABCB11
5low-density lipoprotein particle remodelingGO:0343749.2CETP, LIPC
6triglyceride homeostasisGO:0703289.0CETP, LIPC
7very-low-density lipoprotein particle remodelingGO:0343728.8LCAT, CETP, LIPC
8high-density lipoprotein particle remodelingGO:0343758.7LCAT, CETP, LIPC
9reverse cholesterol transportGO:0436918.7LIPC, CETP, LCAT
10cholesterol homeostasisGO:0426328.7LCAT, CETP, LIPC
11cholesterol metabolic processGO:0082038.7LIPC, CETP, LCAT

Products for genes affiliated with Benign Recurrent Intrahepatic Cholestasis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Benign Recurrent Intrahepatic Cholestasis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet