Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
PFIC2
MCID: CHL136
MIFTS: 59

Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic, 2:

Name: Cholestasis, Progressive Familial Intrahepatic, 2 56 73 71
Pfic2 56 12 52 58 73 54
Cholestasis, Progressive Familial Intrahepatic 2 56 74 13 43
Progressive Familial Intrahepatic Cholestasis 2 12 29 6 15
Progressive Familial Intrahepatic Cholestasis Type 2 52 58
Bsep Deficiency 12 58
Cholestasis, Intrahepatic, Familial, Progressive, Type 2 39
Severe Abcb11 Deficiency 52

Characteristics:

Orphanet epidemiological data:

58
progressive familial intrahepatic cholestasis type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
caused by a defect in bile acid transport
genetic heterogeneity, see pfic1


HPO:

31
cholestasis, progressive familial intrahepatic, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset
Clinical modifier death in childhood


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
Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070222
OMIM 56 601847
OMIM Phenotypic Series 56 PS211600
MESH via Orphanet 44 C535934
ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 72 C1866138 C3489789
Orphanet 58 ORPHA79304
UMLS 71 C3489789
Sources

Summaries for Cholestasis, Progressive Familial Intrahepatic, 2

About this section
NIH Rare Diseases : 52 Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice , failure to thrive , portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer ). PFIC2 is caused by change (mutations ) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation .

MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic, 2, also known as pfic2, is related to atp8b1 deficiency and cholestasis, progressive familial intrahepatic, 1, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Liver Extracts and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver and spleen, and related phenotypes are splenomegaly and hepatomegaly

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

OMIM : 56 Progressive familial intrahepatic cholestasis-2 (PFIC2) is an autosomal recessive disorder characterized by progressive liver disease with impairment of bile flow, but without hepatobiliary structural abnormality. Patients have amorphous or finely filamentous bile and nonspecific giant cell hepatitis on presentation (summary by Strautnieks et al., 1998). For a phenotypic description and a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600). (601847)

UniProtKB/Swiss-Prot : 73 Cholestasis, progressive familial intrahepatic, 2: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

Wikipedia : 74 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

Sources

Related Diseases for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

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, Progressive Familial Intrahepatic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 atp8b1 deficiency 30.4 NR1H4 ATP8B1 ABCB11
2 cholestasis, progressive familial intrahepatic, 1 30.2 TJP2 SLC10A2 SLC10A1 NR1H4 CYP7A1 ATP8B1
3 cholelithiasis 29.7 NR1H4 CYP7A1 ABCG5 ABCB4
4 cholestasis, intrahepatic, of pregnancy, 1 29.6 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
5 biliary atresia 29.5 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCB4 ABCB11
6 liver disease 29.4 TJP2 SLC10A1 NR1H4 ATP8B1 ABCC2 ABCB4
7 familial intrahepatic cholestasis 29.0 TJP2 SLCO1B1 SLC10A2 NR1H4 ATP8B1 ABCC2
8 intrahepatic cholestasis of pregnancy 28.3 SLCO1B1 NR1H4 ATP8B1 ABCC3 ABCC2 ABCB4
9 cholestasis, benign recurrent intrahepatic, 1 28.0 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
10 bilirubin metabolic disorder 28.0 SLCO1B1 ATP8B1 ABCC4 ABCC3 ABCC2 ABCB4
11 progressive familial intrahepatic cholestasis 27.9 TJP2 SLCO1B1 SLC51A SLC10A2 SLC10A1 NR1H4
12 cholestasis, benign recurrent intrahepatic, 2 26.9 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
13 cholestasis 26.2 TJP2 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1
14 acute liver failure 10.3
15 cholangitis 10.2 NR1H4 ABCB4 ABCB11
16 bile duct cysts 10.2 ATP8B1 ABCB4
17 cholestasis, intrahepatic, of pregnancy 3 10.2 ABCB4 ABCB11
18 liver cirrhosis 10.1
19 mitochondrial metabolism disease 10.1
20 mitochondrial disorders 10.1
21 growth hormone deficiency 10.1
22 alagille syndrome 1 10.1 ATP8B1 ABCB4 ABCB11
23 ataxia and polyneuropathy, adult-onset 10.1
24 autosomal recessive disease 10.1
25 brucellosis 10.1
26 acute pancreatitis 10.1
27 lipid metabolism disorder 10.1
28 autosomal dominant non-syndromic intellectual disability 3 10.1 SLC51A ABCB4 ABCB11
29 gallbladder disease 1 10.1
30 rickets 10.1
31 portal hypertension 10.1
32 caroli disease 10.0 ATP8B1 ABCB4
33 functional diarrhea 10.0 SLC10A2 NR1H4 CYP7A1
34 urea cycle disorder 9.9 ATP8B1 ABCB11
35 sclerosing cholangitis 9.9 NR1H4 ABCC2 ABCB4 ABCB11
36 hypercholesterolemia, familial, 1 9.8 NR1H4 CYP7A1 ABCG5
37 cholestasis, progressive familial intrahepatic, 5 9.8 TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
38 gallbladder disease 9.8 NR1H4 ABCG5 ABCB4 ABCB11
39 hyperbilirubinemia, rotor type 9.8 SLCO1B1 ABCC2
40 pericholangitis 9.7 SLC51A SLC10A2 SLC10A1 ABCB4 ABCB11
41 bile acid synthesis defect, congenital, 2 9.6 SLC51B SLC10A1 NR1H4 CYP7A1 ABCB11
42 sitosterolemia 9.6 CYP7A1 ATP8B1 ABCG5 ABCB4 ABCB11
43 cholestasis, progressive familial intrahepatic, 4 9.4 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
44 thiopurines, poor metabolism of, 1 9.4 SLCO1B1 ABCC4
45 heart defects, congenital, and other congenital anomalies 8.8 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 CYP8B1
46 dubin-johnson syndrome 8.7 SLCO1B1 ATP8B1 ABCC4 ABCC3 ABCC2 ABCB11
47 cholangitis, primary sclerosing 8.5 SLC51A SLC10A2 SLC10A1 NR1H4 CYP8B1 CYP7A1
48 cholestasis, progressive familial intrahepatic, 3 8.3 TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
49 extrahepatic cholestasis 8.2 SLC51B SLC51A SLC10A1 NR1H4 CYP8B1 CYP7A1
50 primary biliary cirrhosis 8.0 SLCO1B1 SLC10A1 NR1H4 CYP7A1 ABCC4 ABCC3

Graphical network of the top 20 diseases related to Cholestasis, Progressive Familial Intrahepatic, 2:



Diseases related to Cholestasis, Progressive Familial Intrahepatic, 2
Sources

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 short stature 31 HP:0004322
4 failure to thrive 31 HP:0001508
5 pruritus 31 HP:0000989
6 cirrhosis 31 HP:0001394
7 fat malabsorption 31 HP:0002630
8 diarrhea 31 HP:0002014
9 conjugated hyperbilirubinemia 31 HP:0002908
10 hepatocellular carcinoma 31 HP:0001402
11 intrahepatic cholestasis 31 HP:0001406
12 elevated alkaline phosphatase 31 HP:0003155
13 intermittent jaundice 31 HP:0001046

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Skin Nails Hair Skin:
pruritus
jaundice

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

Abdomen Liver:
hepatomegaly
cirrhosis
jaundice
intrahepatic cholestasis
intracanalicular cholestasis shown on biopsy
more
Growth Other:
failure to thrive
growth retardation

Abdomen Gastrointestinal:
diarrhea
malabsorption of fat and fat-soluble vitamins

Neoplasia:
increased risk of hepatocellular carcinoma

Clinical features from OMIM:

601847

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic, 2:


pruritus, diarrhea, icterus

MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ABCB11 ABCB4 ABCC4 ABCG5 ATP8B1 CYP7A1
2 digestive/alimentary MP:0005381 9.86 ABCB4 ABCC4 ABCG5 CYP7A1 CYP8B1 NR1H4
3 homeostasis/metabolism MP:0005376 9.77 ABCB11 ABCB4 ABCC2 ABCC3 ABCC4 ABCG5
4 liver/biliary system MP:0005370 9.32 ABCB11 ABCB4 ABCC2 ABCC3 ABCG5 ATP8B1
Sources

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

Drugs for Cholestasis, Progressive Familial Intrahepatic, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3
2 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRX-502: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) - MARCH-PFIC Recruiting NCT03905330 Phase 3 Maralixibat
2 An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Enrolling by invitation NCT04185363 Phase 3 Maralixibat
3 NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion (NAPPED Study), Meta-analysis of Individual Patient Data of PFIC Before and After Surgery (Bile Diversion or Liver Transplantation) Enrolling by invitation NCT03930810

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic, 2

Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 2

Sources

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

Genetic tests related to Cholestasis, Progressive Familial Intrahepatic, 2:

# Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis 2 29 ABCB11
Sources

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 2:

40
Liver, Spleen
Sources

Publications for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

Articles related to Cholestasis, Progressive Familial Intrahepatic, 2:

(show top 50) (show all 90)
# Title Authors PMID Year
1
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 56 6 61 54
9806540 1998
2
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 56 6
10579978 1999
3
Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 54 61 6
16039748 2005
4
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 61 6
15300568 2004
5
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. 61 56
9326328 1997
6
Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. 6
25921221 2015
7
Mutations in TJP2 cause progressive cholestatic liver disease. 6
24614073 2014
8
Recurrence of bile salt export pump deficiency after liver transplantation. 56
19797282 2009
9
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. 56
16871584 2006
10
ATP8B1 Deficiency 6
20301474 2001
11
Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22. 56
9272158 1997
12
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. 54 61
20414253 2010
13
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. 54 61
20422495 2010
14
[Genetic cholestasis]. 61 54
19753442 2009
15
Progressive familial intrahepatic cholestasis. 61 54
19133130 2009
16
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. 54 61
18487280 2008
17
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 54
17855769 2007
18
4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. 54 61
17538928 2007
19
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. 61 54
17241866 2007
20
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). 54 61
16763017 2006
21
Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. 61 54
16628629 2006
22
Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis. 61 54
11172067 2001
23
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency. 61
32433800 2020
24
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression. 61
31335238 2020
25
Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients. 61
32309332 2020
26
Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2. 61
32508937 2020
27
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. 61
31400129 2019
28
Familial intrahepatic cholestasis: New and wide perspectives. 61
31105019 2019
29
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients. 61
31091858 2019
30
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. 61
31083836 2019
31
Systematic review of progressive familial intrahepatic cholestasis. 61
30236549 2019
32
Constitutive Androstane Receptor Differentially Regulates Bile Acid Homeostasis in Mouse Models of Intrahepatic Cholestasis. 61
30620001 2019
33
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 61
30416103 2019
34
Long-term follow-up in children with progressive familial intrahepatic cholestasis type 2 after partial external biliary diversion with focus on histopathological features. 61
31556557 2019
35
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. 61
30367658 2018
36
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. 61
30250015 2018
37
Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. 61
29718219 2018
38
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis. 61
29507376 2018
39
Post-transplant Recurrent Bile Salt Export Pump Disease: A Form of Antibody-mediated Graft Dysfunction and Utilization of C4d. 61
28945205 2017
40
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. 61
28425419 2017
41
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. 61
31153449 2017
42
Generation of a bile salt export pump deficiency model using patient-specific induced pluripotent stem cell-derived hepatocyte-like cells. 61
28150711 2017
43
Current and future therapies for inherited cholestatic liver diseases. 61
28223721 2017
44
Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. 61
27932171 2016
45
Bipolar and Related Disorders Induced by Sodium 4-Phenylbutyrate in a Male Adolescent with Bile Salt Export Pump Deficiency Disease. 61
27757140 2016
46
Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing. 61
31155086 2016
47
 Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing. 61
27493120 2016
48
Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. 61
31196404 2016
49
 Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. 61
26845599 2016
50
Brucella infection in a child with progressive familial intrahepatic cholestasis type 2 who had undergone liver transplantation. 61
26148181 2015
Sources

Variations for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:

6 (show top 50) (show all 126) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCB11 NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)SNV Benign, other 195964 rs1521808 2:169783728-169783728 2:168927218-168927218
2 ABCB11 NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)SNV Pathogenic 6589 rs72549401 2:169826641-169826641 2:168970131-168970131
3 ABCB11 NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)SNV Pathogenic 6590 rs11568372 2:169847329-169847329 2:168990819-168990819
4 ABCB11 NM_003742.4(ABCB11):c.908+1deldeletion Pathogenic 6591 rs1553469602 2:169847310-169847310 2:168990800-168990800
5 ABCB11 NM_003742.4(ABCB11):c.3767dup (p.Val1257fs)duplication Pathogenic 6592 rs387907317 2:169780330-169780331 2:168923820-168923821
6 ABCB11 NM_003742.4(ABCB11):c.150+3A>CSNV Pathogenic 6593 rs387906354 2:169870810-169870810 2:169014300-169014300
7 ABCB11 NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)duplication Pathogenic 6594 rs752919965 2:169792766-169792767 2:168936256-168936257
8 ABCB11 NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)SNV Pathogenic 6596 rs72549397 2:169788931-169788931 2:168932421-168932421
9 ABCB11 NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)SNV Pathogenic 417884 rs1060499579 2:169801435-169801435 2:168944925-168944925
10 ABCB11 NM_003742.4(ABCB11):c.379del (p.Thr127fs)deletion Pathogenic 594630 rs1558927163 2:169869792-169869792 2:169013282-169013282
11 ABCB11 NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)SNV Pathogenic 623288 rs1558898789 2:169830243-169830243 2:168973733-168973733
12 ABCB11 GRCh37/hg19 2q31.1(chr2:169824976-169830328)copy number loss Pathogenic 625825 2:169824976-169830328
13 ABCB11 NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)SNV Pathogenic 288555 rs72549402 2:169828550-169828550 2:168972040-168972040
14 ABCB11 NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)SNV Pathogenic 288726 rs72549395 2:169783827-169783827 2:168927317-168927317
15 ABCB11 NM_003742.4(ABCB11):c.2012-8T>GSNV Pathogenic/Likely pathogenic 284637 rs769910565 2:169825008-169825008 2:168968498-168968498
16 ABCB11 NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)SNV Likely pathogenic 801829 2:169869914-169869914 2:169013404-169013404
17 ABCB11 NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter)duplication Likely pathogenic 804388 2:169836471-169836472 2:168979961-168979962
18 ABCB11 NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=)SNV Conflicting interpretations of pathogenicity 752939 2:169781299-169781299 2:168924789-168924789
19 ABCB11 NM_003742.4(ABCB11):c.1530C>A (p.Thr510=)SNV Conflicting interpretations of pathogenicity 753364 2:169828465-169828465 2:168971955-168971955
20 ABCB11 NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)SNV Conflicting interpretations of pathogenicity 594929 rs2287617 2:169847323-169847323 2:168990813-168990813
21 ABCB11 NM_003742.4(ABCB11):c.3411+10G>ASNV Conflicting interpretations of pathogenicity 596230 rs188996270 2:169787165-169787165 2:168930655-168930655
22 ABCB11 NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)SNV Conflicting interpretations of pathogenicity 434035 rs201087979 2:169791864-169791864 2:168935354-168935354
23 ABCB11 NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)SNV Conflicting interpretations of pathogenicity 497606 rs200912109 2:169824976-169824976 2:168968466-168968466
24 ABCB11 NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)SNV Conflicting interpretations of pathogenicity 500457 rs140138979 2:169833141-169833141 2:168976631-168976631
25 ABCB11 NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)SNV Conflicting interpretations of pathogenicity 501908 rs200709879 2:169783760-169783760 2:168927250-168927250
26 ABCB11 NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)SNV Conflicting interpretations of pathogenicity 513952 rs1014304470 2:169801160-169801160 2:168944650-168944650
27 ABCB11 NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=)SNV Conflicting interpretations of pathogenicity 515742 rs376258647 2:169842641-169842641 2:168986131-168986131
28 ABCB11 NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)SNV Conflicting interpretations of pathogenicity 284723 rs183621659 2:169783772-169783772 2:168927262-168927262
29 ABCB11 NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)SNV Conflicting interpretations of pathogenicity 197219 rs183406496 2:169870836-169870836 2:169014326-169014326
30 ATP8B1 NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn)SNV Conflicting interpretations of pathogenicity 7271 rs34719006 18:55373793-55373793 18:57706561-57706561
31 ABCB11 NM_003742.4(ABCB11):c.3411+9C>TSNV Conflicting interpretations of pathogenicity 284293 rs201287126 2:169787166-169787166 2:168930656-168930656
32 ABCB11 NM_003742.4(ABCB11):c.930C>T (p.Phe310=)SNV Conflicting interpretations of pathogenicity 289538 rs372382608 2:169842773-169842773 2:168986263-168986263
33 ABCB11 NM_003742.4(ABCB11):c.408C>T (p.Ser136=)SNV Conflicting interpretations of pathogenicity 289974 rs183214630 2:169853214-169853214 2:168996704-168996704
34 ABCB11 NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)SNV Conflicting interpretations of pathogenicity 290081 rs188824058 2:169828535-169828535 2:168972025-168972025
35 ABCB11 NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)SNV Conflicting interpretations of pathogenicity 291251 rs200087122 2:169814519-169814519 2:168958009-168958009
36 ABCB11 NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)SNV Conflicting interpretations of pathogenicity 291290 rs192375476 2:169792743-169792743 2:168936233-168936233
37 ABCB11 NM_003742.4(ABCB11):c.810G>A (p.Glu270=)SNV Conflicting interpretations of pathogenicity 332037 rs369671177 2:169847409-169847409 2:168990899-168990899
38 ABCB11 NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)SNV Conflicting interpretations of pathogenicity 332036 rs369132677 2:169836460-169836460 2:168979950-168979950
39 ABCB11 NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)SNV Conflicting interpretations of pathogenicity 332022 rs199940188 2:169791823-169791823 2:168935313-168935313
40 ABCB11 NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)SNV Conflicting interpretations of pathogenicity 382469 rs11568361 2:169870004-169870004 2:169013494-169013494
41 ABCB11 NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)SNV Conflicting interpretations of pathogenicity 381717 rs200739891 2:169847368-169847368 2:168990858-168990858
42 ABCB11 NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)SNV Conflicting interpretations of pathogenicity 382082 rs201881755 2:169791843-169791843 2:168935333-168935333
43 ABCB11 NM_003742.4(ABCB11):c.936G>T (p.Gln312His)SNV Uncertain significance 381718 rs770497192 2:169842767-169842767 2:168986257-168986257
44 ABCB11 NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)SNV Uncertain significance 332027 rs372757355 2:169801210-169801210 2:168944700-168944700
45 ABCB11 NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)SNV Uncertain significance 332029 rs539087982 2:169820802-169820802 2:168964292-168964292
46 ABCB11 NM_003742.4(ABCB11):c.2075+7T>ASNV Uncertain significance 332030 rs768511849 2:169824930-169824930 2:168968420-168968420
47 ABCB11 NM_003742.4(ABCB11):c.-78C>TSNV Uncertain significance 332039 rs746730049 2:169887785-169887785 2:169031275-169031275
48 ABCB11 NM_003742.4(ABCB11):c.*252T>ASNV Uncertain significance 332016 rs886055060 2:169779880-169779880 2:168923370-168923370
49 ABCB11 NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His)SNV Uncertain significance 332021 rs886055062 2:169788910-169788910 2:168932400-168932400
50 ABCB11 NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu)SNV Uncertain significance 332023 rs886055063 2:169791845-169791845 2:168935335-168935335

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 ABCB11 p.Glu297Gly VAR_010271 rs11568372
2 ABCB11 p.Val284Leu VAR_013332
3 ABCB11 p.Lys461Glu VAR_013334 rs127455890
4 ABCB11 p.Asp482Gly VAR_013335 rs72549402
5 ABCB11 p.Gly982Arg VAR_013336 rs72549399
6 ABCB11 p.Gly1004Asp VAR_013337
7 ABCB11 p.Arg1153Cys VAR_013338 rs72549395
8 ABCB11 p.Arg1268Gln VAR_013339 rs72549394
9 ABCB11 p.Gly238Val VAR_030388 rs72551306
10 ABCB11 p.Cys336Ser VAR_030390 rs72551305
11 ABCB11 p.Tyr472Cys VAR_073968 rs369860506
12 ABCB11 p.Asp1131Val VAR_073971

Cosmic variations for Cholestasis, Progressive Familial Intrahepatic, 2:

9 (show top 50) (show all 15388)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97724722 ZXDB liver,NS,carcinoma,hepatocellular carcinoma c.1308C>A p.D436E 23:57593356-57593356 12
2 COSM94436083 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 12
3 COSM94063771 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 12
4 COSM88264637 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 12
5 COSM131494492 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.1159A>G p.M387V 22:29049340-29049340 12
6 COSM102131817 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 12
7 COSM113317148 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 12
8 COSM128686611 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.1072T>A p.F358I 19:36891962-36891962 12
9 COSM123949383 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 12
10 COSM86004822 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 12
11 COSM139729931 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
12 COSM91868668 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 12
13 COSM91880764 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.2171-78T>G p.? 19:30534769-30534769 12
14 COSM94799980 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 12
15 COSM90582798 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 12
16 COSM87577038 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 12
17 COSM151538615 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.253+23785G>T p.? 2:179745718-179745718 12
18 COSM111609487 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1444C>G p.L482V 16:89734008-89734008 12
19 COSM92353291 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 12
20 COSM95253159 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 12
21 COSM94505616 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 12
22 COSM89943752 ZMYM4 liver,NS,carcinoma,hepatocellular carcinoma c.86-8201G>T p.? 1:35350724-35350724 12
23 COSM101398456 ZIC2 liver,NS,carcinoma,hepatocellular carcinoma c.-18C>T p.? 13:99982047-99982047 12
24 COSM92703312 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 12
25 COSM92032561 ZFYVE26 liver,NS,carcinoma,hepatocellular carcinoma c.663C>A p.A221= 14:67807621-67807621 12
26 COSM84360265 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.1979+14C>A p.? 5:32395145-32395145 12
27 COSM84362097 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.2882C>T p.P961L 5:32364229-32364229 12
28 COSM85178149 ZFP36L2 liver,NS,carcinoma,hepatocellular carcinoma c.910T>G p.S304A 2:43224894-43224894 12
29 COSM87884183 ZFP28 liver,NS,carcinoma,hepatocellular carcinoma c.1865G>A p.C622Y 19:56554650-56554650 12
30 COSM127392053 ZFHX4 liver,NS,carcinoma,hepatocellular carcinoma c.10601C>G p.S3534C 8:76864315-76864315 12
31 COSM149268658 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.9997C>T p.Q3333* 16:72788279-72788279 12
32 COSM149328017 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.10852C>A p.P3618T 16:72787424-72787424 12
33 COSM149281099 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.8342A>G p.Q2781R 16:72794340-72794340 12
34 COSM144309108 ZEB2 liver,NS,carcinoma,hepatocellular carcinoma c.1141A>G p.M381V 2:144400046-144400046 12
35 COSM87420403 ZCCHC14 liver,NS,carcinoma,hepatocellular carcinoma c.71A>T p.Q24L 16:87491757-87491757 12
36 COSM98996636 ZC3H7A liver,NS,carcinoma,hepatocellular carcinoma c.2866A>G p.N956D 16:11751367-11751367 12
37 COSM92255466 ZC3H15 liver,NS,carcinoma,hepatocellular carcinoma c.*55T>G p.? 2:186508788-186508788 12
38 COSM85044193 ZC3H14 liver,NS,carcinoma,hepatocellular carcinoma c.*10873G>A p.? 14:88622624-88622624 12
39 COSM106743522 ZBTB7B liver,NS,carcinoma,hepatocellular carcinoma c.*635G>C p.? 1:155017320-155017320 12
40 COSM93795261 ZBTB41 liver,NS,carcinoma,hepatocellular carcinoma c.1700G>A p.R567K 1:197178489-197178489 12
41 COSM103188148 ZBTB40 liver,NS,carcinoma,hepatocellular carcinoma c.3339C>A p.F1113L 1:22524258-22524258 12
42 COSM91488114 ZBTB4 liver,NS,carcinoma,hepatocellular carcinoma c.454G>T p.G152C 17:7466348-7466348 12
43 COSM95291738 ZBTB37 liver,NS,carcinoma,hepatocellular carcinoma c.620G>C p.S207T 1:173870845-173870845 12
44 COSM107993551 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2383A>G p.I795V 8:80519295-80519295 12
45 COSM107993152 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2208A>G p.T736= 8:80518852-80518852 12
46 COSM86073785 ZBED4 liver,NS,carcinoma,hepatocellular carcinoma c.2225A>C p.E742A 22:49885887-49885887 12
47 COSM142300159 YTHDF3 liver,NS,carcinoma,hepatocellular carcinoma c.1580A>G p.N527S 8:63187582-63187582 12
48 COSM90849676 YOD1 liver,NS,carcinoma,hepatocellular carcinoma c.*157T>C p.? 1:207048863-207048863 12
49 COSM90620829 YME1L1 liver,NS,carcinoma,hepatocellular carcinoma c.2006A>G p.H669R 10:27116230-27116230 12
50 COSM86902201 YEATS2 liver,NS,carcinoma,hepatocellular carcinoma c.501C>T p.N167= 3:183722100-183722100 12
Sources

Expression for Cholestasis, Progressive Familial Intrahepatic, 2

About this section
Search GEO for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic, 2.
Sources

Pathways for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

Pathways related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.93 SLCO1B1 SLC10A2 SLC10A1 NR1H4 CYP8B1 CYP7A1
2
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.21 SLCO1B1 ATP8B1 ABCG5 ABCC4 ABCC3 ABCC2
3
Synthesis of bile acids and bile salts 65
Show member pathways
 12.17 SLCO1B1 SLC10A2 SLC10A1 NR1H4 CYP8B1 CYP7A1
4
Blood-Brain Barrier: Anatomy 64
Show member pathways
 11.98 SLCO1B1 ABCC4 ABCC3 ABCC2
5
NRF2 pathway 1
11.93 ABCC4 ABCC3 ABCC2
6
Hepatic ABC Transporters 63
Show member pathways
 11.92 SLCO1B1 SLC10A1 ABCC2 ABCB4 ABCB11
7
Statin Pathway - Generalized, Pharmacokinetics 60
Show member pathways
 11.86 SLCO1B1 ABCC4 ABCC3 ABCC2 ABCB11
8
Statin Pathway 1
Show member pathways
 11.82 CYP7A1 ABCG5 ABCB11
9
Acetaminophen Pathway (therapeutic doses), Pharmacokinetics 60
Show member pathways
 11.63 ABCC4 ABCC3 ABCC2
10
Carvedilol Pathway, Pharmacokinetics 60
Show member pathways
 11.6 SLCO1B1 ABCC3 ABCC2
11
Bile secretion 36
11.39 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
12
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.3 NR1H4 CYP8B1 CYP7A1 ABCG5 ABCC3 ABCC2
13
Antifolate resistance 36
11.18 ABCC4 ABCC3 ABCC2
14
Constitutive Androstane Receptor Pathway 1
11.11 ABCC3 ABCC2
15
Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling 1
11.03 ABCC4 ABCC3 ABCC2
16
PPAR Alpha Pathway 1
11.01 CYP8B1 CYP7A1
17
Farnesoid X Receptor Pathway 1
11.01 SLC10A1 NR1H4 CYP8B1 CYP7A1 ABCB4 ABCB11
18
Methotrexate Pathway, Pharmacokinetics 60
Show member pathways
 10.97 SLCO1B1 ABCC4 ABCC3 ABCC2
19
Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics 60
10.91 ABCC4 ABCC3 ABCC2
20
Drug Induction of Bile Acid Pathway 1
10.89 SLCO1B1 SLC51B SLC51A SLC10A1 NR1H4 CYP7A1
21
Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics 60
10.81 ABCC4 ABCC3 ABCC2
22
Vinka Alkaloid Pathway, Pharmacokinetics 60
10.57 ABCC3 ABCC2
Sources

GO Terms for Cholestasis, Progressive Familial Intrahepatic, 2

About this section

Cellular components related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 TJP2 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1
2 plasma membrane GO:0005886 10.18 TJP2 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1
3 integral component of membrane GO:0016021 10.1 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1 CYP8B1
4 basolateral plasma membrane GO:0016323 9.72 SLCO1B1 SLC51B SLC51A SLC10A1 ABCC4
5 apical plasma membrane GO:0016324 9.63 SLC10A2 ATP8B1 ABCG5 ABCC4 ABCC2 ABCB4
6 integral component of plasma membrane GO:0005887 9.61 SLCO1B1 SLC10A2 SLC10A1 ATP8B1 ABCG5 ABCC3
7 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11

Biological processes related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.7 ATP8B1 ABCG5 ABCB4
2 transmembrane transport GO:0055085 9.7 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1 ABCG5
3 cholesterol homeostasis GO:0042632 9.69 NR1H4 CYP7A1 ABCG5
4 phospholipid translocation GO:0045332 9.55 ATP8B1 ABCB4
5 sterol metabolic process GO:0016125 9.54 CYP8B1 CYP7A1
6 bile acid biosynthetic process GO:0006699 9.54 CYP8B1 CYP7A1 ABCB11
7 organic anion transport GO:0015711 9.5 SLCO1B1 ABCC3 ABCC2
8 bile acid metabolic process GO:0008206 9.49 NR1H4 ATP8B1
9 xenobiotic transport GO:0042908 9.48 ABCC4 ABCC3
10 organic substance transport GO:0071702 9.46 SLC51B SLC51A
11 cellular response to bile acid GO:1903413 9.43 NR1H4 ABCB4
12 bile acid secretion GO:0032782 9.43 SLC51B SLC51A ABCB4
13 regulation of bile acid biosynthetic process GO:0070857 9.4 NR1H4 CYP7A1
14 canalicular bile acid transport GO:0015722 9.33 ABCC3 ABCC2 ABCB11
15 bile acid and bile salt transport GO:0015721 9.32 SLCO1B1 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4

Molecular functions related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.04 ATP8B1 ABCG5 ABCC4 ABCC3 ABCC2 ABCB4
2 ATP binding GO:0005524 10 ATP8B1 ABCG5 ABCC4 ABCC3 ABCC2 ABCB4
3 transmembrane transporter activity GO:0022857 9.71 SLC51B SLC51A ABCC3 ABCC2
4 ATPase activity GO:0016887 9.63 ABCG5 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
5 transporter activity GO:0005215 9.54 SLC51B SLC51A ABCB11
6 organic anion transmembrane transporter activity GO:0008514 9.48 ABCC3 ABCC2
7 bile acid:sodium symporter activity GO:0008508 9.43 SLC10A2 SLC10A1
8 xenobiotic transmembrane transporter activity GO:0042910 9.43 ABCC4 ABCC3 ABCC2
9 bile acid-exporting ATPase activity GO:0015432 9.32 ABCC3 ABCB11
10 bile acid transmembrane transporter activity GO:0015125 9.26 SLCO1B1 SLC51B SLC51A SLC10A1
11 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.1 ABCG5 ABCC4 ABCC3 ABCC2 ABCB4 ABCB11
Sources

Sources for Cholestasis, Progressive Familial Intrahepatic, 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....