Cholestasis, Benign Recurrent Intrahepatic, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 2:

Name: Cholestasis, Benign Recurrent Intrahepatic, 2 ⁵⁶ ⁷³ ¹³

Benign Recurrent Intrahepatic Cholestasis 2 ¹² ⁵² ²⁹ ⁶ ¹⁵

Bric2 ⁵⁶ ¹² ⁵² ⁵⁸ ⁷³

Cholestasis, Benign Recurrent Intrahepatic 2 ⁵² ⁷¹

Bric Type 2 ¹² ⁵⁸

Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 ³⁹

Benign Recurrent Intrahepatic Cholestasis Type 2 ⁵⁸

Recurrent Familial Intrahepatic Cholestasis 2 ⁵²

Mild Abcb11 Deficiency ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
disease-free intervals can last weeks to years during which there is no clinical or biochemical evidence of cholestasis
onset in first 2 decades
precipitating factors include viral illness and pregnancy
allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, )

HPO:

³¹

cholestasis, benign recurrent intrahepatic, 2:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Cancer diseases
Anatomical: Liver diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the digestive system

Disorders of gallbladder, biliary tract and pancreas

Other diseases of biliary tract

Obstruction of bile duct

Orphanet: ⁵⁸

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0070232

OMIM ⁵⁶ 605479

OMIM Phenotypic Series ⁵⁶ PS243300

MeSH ⁴³ D002780

MESH via Orphanet ⁴⁴ C535931

ICD10 via Orphanet ³³ K83.1

UMLS via Orphanet ⁷² C2608083 C3489789

Orphanet ⁵⁸ ORPHA99961

MedGen ⁴¹ C2608083

SNOMED-CT via HPO ⁶⁸ 18165001 258211005 266474003 more

UMLS ⁷¹ C2608083 C3489789

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Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

UniProtKB/Swiss-Prot : ⁷³ Cholestasis, benign recurrent intrahepatic, 2: 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.

MalaCards based summary : Cholestasis, Benign Recurrent Intrahepatic, 2, also known as benign recurrent intrahepatic cholestasis 2, is related to atp8b1 deficiency and cholelithiasis. An important gene associated with Cholestasis, Benign Recurrent Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Metabolism and Synthesis of bile acids and bile salts. Affiliated tissues include liver and pancreas, and related phenotypes are intrahepatic cholestasis and hepatomegaly

Disease Ontology : ¹² A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31.

OMIM : ⁵⁶ Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without progression to liver failure. The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically (van Mil et al., 2004). (605479)

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Related Diseases for Cholestasis, Benign Recurrent Intrahepatic, 2

Diseases in the 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	Progressive Familial Intrahepatic Cholestasis
Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)

#	Related Disease	Score	Top Affiliating Genes
1	atp8b1 deficiency	30.4	NR1H4 ATP8B1 ABCB11
2	cholelithiasis	29.3	NR1H4 CYP7A1 ABCG5 ABCB4
3	familial intrahepatic cholestasis	28.6	TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
4	cholestasis, benign recurrent intrahepatic, 1	28.1	TJP2 SLC25A13 SLC10A2 SLC10A1 NR1H4 CYP7A1
5	cholestasis	26.7	TJP2 SLC25A13 SLC10A2 SLC10A1 NR1H4 CYP7A1
6	cholestasis, progressive familial intrahepatic, 2	26.7	TJP2 SLC10A2 SLC10A1 NR1H4 CYP7A1 ATP8B1
7	progressive familial intrahepatic cholestasis	25.7	TJP2 SLC25A13 SLC10A2 SLC10A1 NR1H4 CYP7A1
8	cholangitis	10.2	NR1H4 ABCB4 ABCB11
9	liver cirrhosis	10.2
10	growth hormone deficiency	10.2
11	autosomal dominant non-syndromic intellectual disability 3	10.2	ABCB4 ABCB11
12	autosomal recessive disease	10.1
13	hepatitis a	10.1
14	chronic cholangitis	10.1	ATP8B1 ABCB4
15	caroli disease	10.0	ATP8B1 ABCB4
16	urea cycle disorder	9.9	SLC25A13 ATP8B1 ABCB11
17	sclerosing cholangitis	9.8	NR1H4 ABCC2 ABCB4 ABCB11
18	pericholangitis	9.8	SLC10A2 SLC10A1 ABCB4 ABCB11
19	functional diarrhea	9.8	SLC10A2 NR1H4 CYP7A1
20	dubin-johnson syndrome	9.8	ATP8B1 ABCC3 ABCC2 ABCB11
21	bile duct cysts	9.8	SLC25A13 ATP8B1 ABCB4 ABCB11
22	alagille syndrome 1	9.7	SLC25A13 ATP8B1 ABCB4 ABCB11
23	ornithine transcarbamylase deficiency, hyperammonemia due to	9.7	SLC25A13 ABCB11
24	bile acid synthesis defect, congenital, 2	9.6	SLC10A1 NR1H4 CYP7A1 ABCB11
25	bile acid synthesis defect, congenital, 3	9.6	SLC25A13 NR1H4 CYP7A1
26	obstructive jaundice	9.6	SLC25A13 ABCC3 ABCC2
27	bilirubin metabolic disorder	9.6	ATP8B1 ABCC3 ABCC2 ABCB4 ABCB11
28	cholestasis, progressive familial intrahepatic, 5	9.5	TJP2 NR1H4 ATP8B1 ABCB11
29	hypercholesterolemia, familial, 1	9.5	NR1H4 CYP7A1 ABCG5
30	autoimmune disease of urogenital tract	9.5	SLC10A1 NR1H4 CYP7A1 ABCB4 ABCB11
31	biliary atresia	9.4	SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCB4 ABCB11
32	intrahepatic cholestasis of pregnancy	9.4	NR1H4 ATP8B1 ABCC3 ABCC2 ABCB4 ABCB11
33	cholestasis, progressive familial intrahepatic, 4	9.3	TJP2 SLC10A2 ATP8B1 ABCB4 ABCB11
34	gallbladder disease	9.2	NR1H4 CYP7A1 ABCG5 ABCB4 ABCB11
35	cholestasis, intrahepatic, of pregnancy, 1	9.1	SLC25A13 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
36	sitosterolemia	9.1	CYP7A1 ATP8B1 ABCG5 ABCC2 ABCB4 ABCB11
37	extrahepatic cholestasis	9.0	SLC10A1 NR1H4 CYP7A1 ABCC3 ABCC2 ABCB4
38	primary biliary cirrhosis	8.9	SLC10A1 NR1H4 CYP7A1 ABCC3 ABCC2 ABCB4
39	cholangitis, primary sclerosing	8.8	SLC10A2 SLC10A1 NR1H4 CYP7A1 ATP8B1 ABCC2
40	liver disease	8.4	TJP2 SLC25A13 SLC10A1 NR1H4 ATP8B1 ABCC2
41	leber congenital amaurosis	8.2	SLC10A2 SLC10A1 NR1H4 CYP7A1 ABCG5 ABCC3
42	cholestasis, progressive familial intrahepatic, 3	8.1	TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCG5
43	biliary tract disease	8.1	SLC25A13 SLC10A2 SLC10A1 NR1H4 CYP7A1 ATP8B1
44	bile duct disease	8.1	SLC25A13 SLC10A2 SLC10A1 NR1H4 CYP7A1 ATP8B1
45	cholestasis, progressive familial intrahepatic, 1	7.7	TJP2 SLC10A2 SLC10A1 NR1H4 CYP7A1 ATP8B1

Graphical network of the top 20 diseases related to Cholestasis, Benign Recurrent Intrahepatic, 2:

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Symptoms & Phenotypes for Cholestasis, Benign Recurrent Intrahepatic, 2

Human phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2:

³¹ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	intrahepatic cholestasis ³¹	occasional (7.5%)	HP:0001406
2	hepatomegaly ³¹		HP:0002240
3	pruritus ³¹		HP:0000989
4	cholelithiasis ³¹		HP:0001081
5	jaundice ³¹		HP:0000952
6	conjugated hyperbilirubinemia ³¹		HP:0002908
7	elevated alkaline phosphatase ³¹		HP:0003155

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Liver:
hepatomegaly
cholelithiasis
jaundice, episodic
progression to end-stage liver disease does not occur
intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life
more

Skin Nails Hair Skin:
jaundice, episodic
pruritus, episodic

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

Clinical features from OMIM:

605479

MGI Mouse Phenotypes related to Cholestasis, Benign Recurrent Intrahepatic, 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.85	ABCB11 ABCB4 ABCG5 ATP8B1 CYP7A1 NR1H4
2	digestive/alimentary	MP:0005381	9.73	ABCB4 ABCG5 CYP7A1 NR1H4 NR5A2 SLC10A2
3	homeostasis/metabolism	MP:0005376	9.7	ABCB11 ABCB4 ABCC2 ABCC3 ABCG5 ATP8B1
4	liver/biliary system	MP:0005370	9.36	ABCB11 ABCB4 ABCC2 ABCC3 ABCG5 ATP8B1

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Drugs & Therapeutics for Cholestasis, Benign Recurrent Intrahepatic, 2

Search Clinical Trials , NIH Clinical Center for Cholestasis, Benign Recurrent Intrahepatic, 2

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Genetic Tests for Cholestasis, Benign Recurrent Intrahepatic, 2

Genetic tests related to Cholestasis, Benign Recurrent Intrahepatic, 2:

#	Genetic test	Affiliating Genes
1	Benign Recurrent Intrahepatic Cholestasis 2 ²⁹

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Anatomical Context for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards organs/tissues related to Cholestasis, Benign Recurrent Intrahepatic, 2:

⁴⁰

Liver, Pancreas

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Publications for Cholestasis, Benign Recurrent Intrahepatic, 2

Articles related to Cholestasis, Benign Recurrent Intrahepatic, 2:

(show all 15)

#	Title	Authors	PMID	Year
1	Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. ⁶¹ ⁵⁶ ⁶	Noe J...Pauli-Magnus C	16039748	2005
2	Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. ⁵⁶ ⁶	van Mil SW...Klomp LW	15300568	2004
3	ATP8B1 Deficiency ⁶	Knisely AS...Shneider BL	20301474	2001
4	Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. ⁶	Jansen PL...Muller M	10579978	1999
5	A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. ⁶	Strautnieks SS...Thompson RJ	9806540	1998
6	Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations. ⁶¹	Sohn MJ...Ko JS	30899697	2019
7	A Physiology-Based Model of Human Bile Acid Metabolism for Predicting Bile Acid Tissue Levels After Drug Administration in Healthy Subjects and BRIC Type 2 Patients. ⁶¹	Baier V...Kuepfer L	31611804	2019
8	Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption. ⁶¹	Hayashi H...Kusuhara H	26223708	2016
9	Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations. ⁶¹	Soroka CJ...Boyer JL	23685087	2014
10	The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. ⁶¹	Lam P...Boyer JL	20422495	2010
11	Characterization of apoptotic activities during chlamydia trachomatis infection in primary cervical epithelial cells. ⁶¹	Vats V...Mittal A	20840054	2010
12	Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. ⁶¹	Kagawa T...Mine T	17947449	2008
13	Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. ⁶¹	Lam P...Boyer JL	17855769	2007
14	Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. ⁶¹	Takahashi A...Kuwano H	18049162	2007
15	A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. ⁶¹	Lam CW...Tong SF	16290310	2006

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Genes for Cholestasis, Benign Recurrent Intrahepatic, 2

Genes related to Cholestasis, Benign Recurrent Intrahepatic, 2 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1577.25	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16039748 20301474 10579978 (more) 15300568 9806540
2	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	8.05	DISEASES inferred ¹⁵
3	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	7.09	DISEASES inferred ¹⁵
4	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	6.43	DISEASES inferred ¹⁵
5	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	6.14	DISEASES inferred ¹⁵
6	FRMPD2	FERM And PDZ Domain Containing 2	Protein Coding	6.13	DISEASES inferred ¹⁵
7	SLC10A2	Solute Carrier Family 10 Member 2	Protein Coding	6.02	DISEASES inferred ¹⁵
8	SLC10A1	Solute Carrier Family 10 Member 1	Protein Coding	5.87	DISEASES inferred ¹⁵
9	NR5A2	Nuclear Receptor Subfamily 5 Group A Member 2	Protein Coding	5.74	DISEASES inferred ¹⁵
10	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	5.68	DISEASES inferred ¹⁵
11	SLC25A13	Solute Carrier Family 25 Member 13	Protein Coding	5.67	DISEASES inferred ¹⁵
12	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	5.63	DISEASES inferred ¹⁵
13	TJP2	Tight Junction Protein 2	Protein Coding	5.59	DISEASES inferred ¹⁵
14	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	5.43	DISEASES inferred ¹⁵

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Variations for Cholestasis, Benign Recurrent Intrahepatic, 2

ClinVar genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ABCB11	NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	SNV	Pathogenic	6590	rs11568372	2:169847329-169847329	2:168990819-168990819
2	ABCB11	NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr)	SNV	Pathogenic	6595	rs121908935	2:169833100-169833100	2:168976590-168976590
3	ABCB11	NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)	SNV	Pathogenic	417884	rs1060499579	2:169801435-169801435	2:168944925-168944925
4	ABCB11	NM_003742.4(ABCB11):c.2012-8T>G	SNV	Pathogenic/Likely pathogenic	284637	rs769910565	2:169825008-169825008	2:168968498-168968498
5	ABCB11	NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	SNV	Conflicting interpretations of pathogenicity	290081	rs188824058	2:169828535-169828535	2:168972025-168972025
6	ABCB11	NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro)	SNV	Uncertain significance	522890	rs1553545883	2:169787260-169787260	2:168930750-168930750
7	ABCB11	NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)	SNV	Uncertain significance	286699	rs201800225	2:169820769-169820769	2:168964259-168964259

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Benign Recurrent Intrahepatic, 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ABCB11	p.Glu297Gly	VAR_010271	rs11568372
2	ABCB11	p.Glu186Gly	VAR_030386	rs72551307
3	ABCB11	p.Arg432Thr	VAR_030391	rs121908935
4	ABCB11	p.Ala570Thr	VAR_030392	rs886043807
5	ABCB11	p.Thr923Pro	VAR_030394	rs777469571
6	ABCB11	p.Ala926Pro	VAR_030395	rs72549400
7	ABCB11	p.Arg1050Cys	VAR_030396	rs72549398
8	ABCB11	p.Arg1128His	VAR_030397	rs756220860

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Expression for Cholestasis, Benign Recurrent Intrahepatic, 2

Search GEO for disease gene expression data for Cholestasis, Benign Recurrent Intrahepatic, 2.

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Pathways for Cholestasis, Benign Recurrent Intrahepatic, 2

Pathways related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.84	SLC25A13 SLC10A2 SLC10A1 NR1H4 CYP7A1 ABCG5
2	Synthesis of bile acids and bile salts ⁶⁵ Show member pathways Bile acid and bile salt metabolism ⁶⁵ bile acid biosynthesis, neutral pathway ¹ Primary bile acid biosynthesis ³⁶ Recycling of bile acids and salts ⁶⁵ Synthesis of bile acids and bile salts via 24-hydroxycholesterol ⁶⁵ Synthesis of bile acids and bile salts via 27-hydroxycholesterol ⁶⁵ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol ⁶⁵	12.04	SLC10A2 SLC10A1 NR1H4 CYP7A1 ABCC3 ABCB11
3	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.76	SLC10A1 ABCC2 ABCB4 ABCB11
4	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁶ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶⁰	11.73	CYP7A1 ABCG5 ABCB11
5	Statin Pathway - Generalized, Pharmacokinetics ⁶⁰ Show member pathways Anti-diabetic Drug Nateglinide Pathway, Pharmacokinetics ⁶⁰ Anti-diabetic Drug Repaglinide Pathway, Pharmacokinetics ⁶⁰ Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics ⁶⁰ Clobazam Pathway, Pharmacokinetics ⁶⁰ Diclofenac Metabolic Pathway ¹ Diclofenac Pathway, Pharmacokinetics ⁶⁰ Fluvastatin Pathway, Pharmacokinetics ⁶⁰ Ibuprofen Pathway, Pharmacokinetics ⁶⁰ Pravastatin Pathway, Pharmacokinetics ⁶⁰ Rosiglitazone Pathway, Pharmacokinetics ⁶⁰ Rosuvastatin Pathway, Pharmacokinetics ⁶⁰	11.67	ABCC3 ABCC2 ABCB11
6	Bile secretion ³⁶	11.13	SLC10A2 SLC10A1 NR1H4 CYP7A1 ABCG5 ABCC3
7	Constitutive Androstane Receptor Pathway ¹	11.06	ABCC3 ABCC2
8	Antifolate resistance ³⁶	11.04	ABCC3 ABCC2
9	Nuclear Receptors in Lipid Metabolism and Toxicity ¹	11.04	NR1H4 CYP7A1 ABCG5 ABCC3 ABCC2 ABCB4
10	Farnesoid X Receptor Pathway ¹	10.93	SLC10A1 NR1H4 CYP7A1 ABCB4 ABCB11
11	Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling ¹	10.89	ABCC3 ABCC2
12	Drug Induction of Bile Acid Pathway ¹	10.86	SLC10A1 NR1H4 CYP7A1 ABCC3 ABCC2 ABCB11
13	Methotrexate Pathway, Pharmacokinetics ⁶⁰ Show member pathways Methotrexate Pathway (Brain Cell), Pharmacokinetics ⁶⁰	10.81	ABCC3 ABCC2
14	Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.75	ABCC3 ABCC2
15	Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics ⁶⁰	10.63	ABCC3 ABCC2
16	Vinka Alkaloid Pathway, Pharmacokinetics ⁶⁰	10.4	ABCC3 ABCC2

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GO Terms for Cholestasis, Benign Recurrent Intrahepatic, 2

Cellular components related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	10.07	SLC25A13 SLC10A2 SLC10A1 CYP7A1 ATP8B1 ABCG5
2	membrane	GO:0016020	10.03	TJP2 SLC25A13 SLC10A2 SLC10A1 FRMPD2 CYP7A1
3	plasma membrane	GO:0005886	10.02	TJP2 SLC10A2 SLC10A1 FRMPD2 ATP8B1 ABCG5
4	integral component of plasma membrane	GO:0005887	9.61	SLC25A13 SLC10A2 SLC10A1 ATP8B1 ABCG5 ABCC3
5	apical plasma membrane	GO:0016324	9.55	SLC10A2 ATP8B1 ABCG5 ABCC2 ABCB4
6	intercellular canaliculus	GO:0046581	8.8	ABCC2 ABCB4 ABCB11

Biological processes related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid transport	GO:0006869	9.65	ATP8B1 ABCG5 ABCB4
2	cholesterol homeostasis	GO:0042632	9.62	NR5A2 NR1H4 CYP7A1 ABCG5
3	transmembrane transport	GO:0055085	9.56	SLC25A13 SLC10A2 SLC10A1 ABCG5 ABCC3 ABCC2
4	lipid homeostasis	GO:0055088	9.54	NR1H4 ABCB4
5	intracellular receptor signaling pathway	GO:0030522	9.52	NR5A2 NR1H4
6	bile acid biosynthetic process	GO:0006699	9.51	CYP7A1 ABCB11
7	phospholipid translocation	GO:0045332	9.49	ATP8B1 ABCB4
8	organic anion transport	GO:0015711	9.46	ABCC3 ABCC2
9	xenobiotic transport	GO:0042908	9.43	ABCC3 ABCC2
10	bile acid metabolic process	GO:0008206	9.43	NR5A2 NR1H4 ATP8B1
11	drug transmembrane transport	GO:0006855	9.4	ATP8B1 ABCC2
12	regulation of bile acid biosynthetic process	GO:0070857	9.37	NR1H4 CYP7A1
13	canalicular bile acid transport	GO:0015722	9.33	ABCC3 ABCC2 ABCB11
14	bile acid and bile salt transport	GO:0015721	9.17	SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCC3 ABCC2

Molecular functions related to Cholestasis, Benign Recurrent Intrahepatic, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP binding	GO:0005524	9.88	ATP8B1 ABCG5 ABCC3 ABCC2 ABCB4 ABCB11
2	transmembrane transporter activity	GO:0022857	9.61	SLC25A13 ABCC3 ABCC2
3	xenobiotic transmembrane transporter activity	GO:0042910	9.37	ABCC3 ABCC2
4	ATPase activity	GO:0016887	9.35	ABCG5 ABCC3 ABCC2 ABCB4 ABCB11
5	organic anion transmembrane transporter activity	GO:0008514	9.32	ABCC3 ABCC2
6	bile acid:sodium symporter activity	GO:0008508	9.26	SLC10A2 SLC10A1
7	bile acid-exporting ATPase activity	GO:0015432	9.16	ABCC3 ABCB11
8	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	9.02	ABCG5 ABCC3 ABCC2 ABCB4 ABCB11

Sources

Sources for Cholestasis, Benign Recurrent Intrahepatic, 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

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Cholestasis, Benign Recurrent Intrahepatic, 2 (BRIC2)

Aliases & Classifications for Cholestasis, Benign Recurrent Intrahepatic, 2

MalaCards integrated aliases for Cholestasis, Benign Recurrent Intrahepatic, 2:

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Summaries for Cholestasis, Benign Recurrent Intrahepatic, 2

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Diseases in the Familial Intrahepatic Cholestasis family:

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