BRIC1
MCID: CHL134
MIFTS: 56

Cholestasis, Benign Recurrent Intrahepatic, 1 (BRIC1)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 1

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 1:

Name: Cholestasis, Benign Recurrent Intrahepatic, 1 57 75
Benign Recurrent Intrahepatic Cholestasis 12 53 25 59 37 15 73
Bric1 57 12 53 59 75
Summerskill Syndrome 57 12 53 75
Bric 12 53 25 59
Cholestasis, Benign Recurrent Intrahepatic 1 53 29 6
Benign Recurrent Intrahepatic Cholestasis 1 12 53 15
Cholestasis, Benign Recurrent Intrahepatic 57 13 55
Summerskill-Walshe-Tygstrup Syndrome 12 53 59
Low Gamma-Gt Familial Intrahepatic Cholestasis 25 29
Recurrent Familial Intrahepatic Cholestasis 25 75
Bric Type 1 12 59
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 40
Cholestasis, Progressive Familial Intrahepatic 3 73
Benign Recurrent Intrahepatic Cholestasis Type 1 59
Recurrent Familial Intrahepatic Cholestasis 1 53
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Progressive Intrahepatic Cholestasis 73
Mild Atp8b1 Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
benign recurrent intrahepatic cholestasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic disorder to intrahepatic cholestasis of pregnancy (icp, )
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
variable age at onset, range from infancy to adulthood
variable frequency and severity
allelic disorder to progressive familial intrahepatic cholestasis-1 (pfic1, )


HPO:

32
cholestasis, benign recurrent intrahepatic, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis, Benign Recurrent Intrahepatic, 1

NIH Rare Diseases : 53 Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis, during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be accompanied by jaundice, severe itchiness, a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. There are two forms of BRIC which are classified based on the genetic cause of the condition. BRIC1 is caused by changes (mutations) in the ATP8B1 gene and BRIC2 is caused by mutations in the ABCB11 gene. Both follow an autosomal recessive pattern of inheritance. Treatment of BRIC may include medications to manage symptoms and specialized therapies (i.e. nasobiliary drainage) to shorten episodes.

MalaCards based summary : Cholestasis, Benign Recurrent Intrahepatic, 1, also known as benign recurrent intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic, 2 and cholestasis, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Bile secretion and Cholesterol metabolism. Affiliated tissues include liver, testes and brain, and related phenotypes are nausea and vomiting and hearing impairment

Disease Ontology : 12 An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.

Genetics Home Reference : 25 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.

OMIM : 57 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989). Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' (243300)

UniProtKB/Swiss-Prot : 75 Cholestasis, benign recurrent intrahepatic, 1: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 1

Diseases in the Progressive Familial Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic, 2 34.4 ABCB11 ATP8B1
2 cholestasis 30.8 SLC10A2 SLC10A1 ATP8B1 ABCB11
3 progressive familial intrahepatic cholestasis 30.2 SLC10A2 ATP8B1 ABCB11
4 intrahepatic cholestasis of pregnancy 30.0 SLC10A2 SLC10A1 ATP8B1 ABCB11
5 cholestasis, progressive familial intrahepatic, 1 29.7 SLC10A2 ATP8B1 ATP11C ABCG8 ABCG5 ABCB11
6 atp8b1 deficiency 10.2 ATP8B1 ABCB11
7 cholestasis, progressive familial intrahepatic, 4 10.2 ABCB11 ATP8B1
8 gallbladder disease 4 10.1 ABCG8 ABCG5
9 cholestasis, progressive familial intrahepatic, 2 10.1 ATP8B1 ABCG5 ABCB11
10 homozygous familial hypercholesterolemia 10.1 ABCG5 ABCG8
11 alagille syndrome 1 10.1 ABCB11 ATP8B1
12 biliary atresia 10.1 SLC10A2 SLC10A1 ATP8B1
13 aortic atherosclerosis 10.1 ABCG5 ABCG8
14 retinitis pigmentosa 10.0
15 leber congenital amaurosis 4 10.0
16 hepatitis 10.0
17 retinitis 10.0
18 hepatitis e 10.0
19 viral infectious disease 10.0
20 cholestasis, progressive familial intrahepatic, 3 10.0 ATP8B1 ATP11C ABCG8 ABCB11
21 bile duct disease 10.0 SLC10A2 SLC10A1 ATP8B1 ABCB11
22 biliary tract disease 10.0 SLC10A2 SLC10A1 ATP8B1 ABCB11
23 hypercholesterolemia, familial 10.0 ABCG5 ABCG8 SLC10A2
24 amyotrophic lateral sclerosis 1 10.0
25 ovarian cancer 1 10.0
26 brain injury 10.0
27 lateral sclerosis 10.0
28 bronchiectasis 10.0
29 sitosterolemia 9.9 ABCG5 ABCG8

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 1:



Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 1

Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 1

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
intrahepatic cholestasis, episodic, recurrent
jaundice, episodic
progression to end-stage liver disease does not occur

Laboratory Abnormalities:
conjugated hyperbilirubinemia
normal or mildly increased serum gamma-ggt
increased serum bile acids

Abdomen Pancreas:
pancreatitis

Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic


Clinical features from OMIM:

243300

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 1:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
2 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
3 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
4 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
5 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
6 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
7 cholestatic liver disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0002611
8 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
9 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
10 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
11 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
12 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
13 chronic diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002028
14 acholic stools 59 32 hallmark (90%) Very frequent (99-80%) HP:0011985
15 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
16 hepatomegaly 32 HP:0002240
17 elevated hepatic transaminases 59 Very frequent (99-80%)
18 conjugated hyperbilirubinemia 32 HP:0002908
19 intermittent jaundice 32 HP:0001046
20 increased serum bile acid concentration 32 HP:0012202
21 intrahepatic cholestasis with episodic jaundice 32 HP:0006575
22 elevated hepatic transaminase 32 hallmark (90%) HP:0002910

UMLS symptoms related to Cholestasis, Benign Recurrent Intrahepatic, 1:


pruritus, diarrhea, icterus

GenomeRNAi Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.32 ATP8B1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.32 ABCB11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.32 ATP8B1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.32 ABCB11 ATP8B1 BACH2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.32 ATP8B1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.32 ABCB11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.32 BACH2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.32 BACH2

MGI Mouse Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ABCB11 ABCG5 ABCG8 ATP11C ATP8B1 BACH2
2 liver/biliary system MP:0005370 9.1 ABCB11 ABCG5 ABCG8 ATP8B1 CUL3 SLC10A2

Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 1

Search Clinical Trials , NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic, 1

Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 1

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic, 1:

# Genetic test Affiliating Genes
1 Cholestasis, Benign Recurrent Intrahepatic 1 29 ATP8B1
2 Low Gamma-Gt Familial Intrahepatic Cholestasis 29

Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 1

MalaCards organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic, 1:

41
Liver, Testes, Brain

Publications for Cholestasis, Benign Recurrent Intrahepatic, 1

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 1:

(show top 50) (show all 75)
# Title Authors Year
1
Benign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection. ( 29191380 )
2018
2
Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch. ( 29404523 )
2018
3
Percutaneous transgastral biliodigestive diversion as treatment option for benign recurrent intrahepatic cholestasis. ( 30339724 )
2018
4
Endoscopic nasobiliary drainage: an effective treatment option for benign recurrent intrahepatic cholestasis (BRIC). ( 28476903 )
2017
5
Benign Recurrent Intrahepatic Cholestasis in a Young Adult. ( 27504332 )
2016
6
Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. ( 26223708 )
2016
7
Compound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis. ( 25565657 )
2015
8
Endoscopic nasobiliary drainage improves jaundice attack symptoms in benign recurrent intrahepatic cholestasis: A case report. ( 23403701 )
2013
9
Treatment of pruritus with Prometheus dialysis and absorption system in a patient with benign recurrent intrahepatic cholestasis. ( 24164717 )
2013
10
Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis. ( 24342334 )
2013
11
Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review. ( 23402083 )
2012
12
A case report: nasobiliary drainage inducing remission in benign recurrent intrahepatic cholestasis. ( 22505385 )
2012
13
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. ( 22229830 )
2012
14
Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. ( 21766090 )
2011
15
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. ( 20955958 )
2010
16
Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future? ( 20537422 )
2010
17
Benign recurrent intrahepatic cholestasis: late initial diagnosis in adulthood. ( 20526019 )
2010
18
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. ( 19731236 )
2009
19
Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. ( 18379143 )
2008
20
Successfully treated intractable pruritus with rifampin in a case of benign recurrent intrahepatic cholestasis. ( 26193696 )
2008
21
Benign recurrent intrahepatic cholestasis (BRIC) in an adult. ( 18416353 )
2007
22
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
23
Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. ( 16394881 )
2006
24
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. ( 16374853 )
2006
25
Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. ( 16736228 )
2006
26
Benign recurrent intrahepatic cholestasis. ( 16186684 )
2005
27
Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. ( 15827452 )
2005
28
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ( 15300568 )
2004
29
Benign recurrent intrahepatic cholestasis. ( 15062197 )
2004
30
Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. ( 15341767 )
2004
31
Extracorporal albumin dialysis (MARS) improves cholestasis and normalizes low apo A-I levels in a patient with benign recurrent intrahepatic cholestasis (BRIC). ( 12220310 )
2002
32
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. ( 11867191 )
2002
33
Successful clinical application of extracorporal albumin dialysis in a patient with benign recurrent intrahepatic cholestasis (BRIC). ( 16215886 )
2001
34
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. ( 11146465 )
2000
35
Benign recurrent intrahepatic cholestasis in a Saudi child. ( 10690264 )
1999
36
Benign recurrent intrahepatic cholestasis. ( 11291237 )
1999
37
Benign recurrent intrahepatic cholestasis. ( 9170826 )
1997
38
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
39
Benign recurrent intrahepatic cholestasis: improvement of pruritus and shortening of the symptomatic phase with rifampin therapy: a case report. ( 9272324 )
1997
40
Intractable cough and abnormal pulmonary function in benign recurrent intrahepatic cholestasis. ( 8855752 )
1996
41
Benign recurrent intrahepatic cholestasis and Byler's disease: one gene, two diseases? ( 8895021 )
1996
42
Benign recurrent intrahepatic cholestasis. Some reflections on a case followed for 20 years. ( 8539477 )
1995
43
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. ( 7655458 )
1995
44
Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. ( 7677155 )
1995
45
Benign recurrent intrahepatic cholestasis. ( 8772982 )
1995
46
Benign recurrent intrahepatic cholestasis: a long-term follow-up. ( 7959556 )
1994
47
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. ( 7894490 )
1994
48
Efficacy of ursodeoxycholic acid in preventing cholestatic episodes in a patient with benign recurrent intrahepatic cholestasis. ( 1639361 )
1992
49
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
50
Benign recurrent intrahepatic cholestasis. A clinico-pathologic study. ( 2356403 )
1990

Variations for Cholestasis, Benign Recurrent Intrahepatic, 1

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 1:

75
# Symbol AA change Variation ID SNP ID
1 ATP8B1 p.Ile661Thr VAR_008812 rs121909100
2 ATP8B1 p.Gly892Arg VAR_008813 rs121909098
3 ATP8B1 p.Gly308Asp VAR_043049
4 ATP8B1 p.Ile344Phe VAR_043050 rs140665115
5 ATP8B1 p.Ser453Tyr VAR_043056
6 ATP8B1 p.Asp454Gly VAR_043057
7 ATP8B1 p.Arg600Gln VAR_043063 rs120268216
8 ATP8B1 p.Arg600Trp VAR_043064
9 ATP8B1 p.Arg628Trp VAR_043065 rs752045131
10 ATP8B1 p.Ile694Thr VAR_043068 rs541474497

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh37 Chromosome 18, 55336665: 55336665
2 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh38 Chromosome 18, 57669433: 57669433
3 ATP8B1 ATP8B1, 9-BP DEL, NT2384 deletion Pathogenic
4 ATP8B1 ATP8B1, IVS23AS, C-A, -3 single nucleotide variant Pathogenic
5 ATP8B1 NM_005603.5(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh37 Chromosome 18, 55373793: 55373793
6 ATP8B1 NM_005603.5(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh38 Chromosome 18, 57706561: 57706561
7 ATP8B1 NM_005603.5(ATP8B1): c.2286-2A> G single nucleotide variant Pathogenic rs377132123 GRCh37 Chromosome 18, 55329849: 55329849
8 ATP8B1 NM_005603.5(ATP8B1): c.2286-2A> G single nucleotide variant Pathogenic rs377132123 GRCh38 Chromosome 18, 57662617: 57662617
9 ATP8B1 NM_005603.5(ATP8B1): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 18, 57674854: 57674854
10 ATP8B1 NM_005603.5(ATP8B1): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 18, 55342086: 55342086

Expression for Cholestasis, Benign Recurrent Intrahepatic, 1

Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic, 1.

Pathways for Cholestasis, Benign Recurrent Intrahepatic, 1

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Bile secretion hsa04976
2 Cholesterol metabolism hsa04979

GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 1

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.63 ABCB11 ABCG5 ABCG8 ATP8B1 SLC10A1 SLC10A2
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 CUL3 KLHL13
3 apical plasma membrane GO:0016324 9.26 ABCG5 ABCG8 ATP8B1 SLC10A2
4 ATP-binding cassette (ABC) transporter complex GO:0043190 8.62 ABCG5 ABCG8

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 ABCB11 ABCG5 ABCG8 SLC10A1 SLC10A2
2 lipid transport GO:0006869 9.62 ABCG5 ABCG8 ATP11C ATP8B1
3 phospholipid transport GO:0015914 9.54 ABCG8 ATP11C ATP8B1
4 excretion GO:0007588 9.49 ABCG5 ABCG8
5 phospholipid translocation GO:0045332 9.48 ATP11C ATP8B1
6 cholesterol efflux GO:0033344 9.46 ABCG5 ABCG8
7 intestinal cholesterol absorption GO:0030299 9.43 ABCG5 ABCG8
8 negative regulation of intestinal cholesterol absorption GO:0045796 9.26 ABCG5 ABCG8
9 negative regulation of intestinal phytosterol absorption GO:0010949 9.16 ABCG5 ABCG8
10 drug transmembrane transport GO:0006855 9.13 ABCG5 ABCG8 ATP8B1
11 bile acid and bile salt transport GO:0015721 8.92 ABCB11 ATP8B1 SLC10A1 SLC10A2

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.58 ABCB11 ABCG5 ABCG8
2 cholesterol transporter activity GO:0017127 9.37 ABCG5 ABCG8
3 phospholipid-translocating ATPase activity GO:0004012 9.32 ATP11C ATP8B1
4 distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001206 9.26 BACH2 GZF1
5 drug transmembrane transporter activity GO:0015238 9.16 ABCG5 ABCG8
6 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.13 ABCB11 ABCG5 ABCG8
7 bile acid:sodium symporter activity GO:0008508 8.62 SLC10A1 SLC10A2

Sources for Cholestasis, Benign Recurrent Intrahepatic, 1

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