MCID: FML355
MIFTS: 38

Familial Intrahepatic Cholestasis

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

Aliases & Classifications for Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Familial Intrahepatic Cholestasis:

Name: Familial Intrahepatic Cholestasis 58

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

ICD10 via Orphanet 33 K83.1
Orphanet 58 ORPHA284385

Summaries for Familial Intrahepatic Cholestasis

MalaCards based summary : Familial Intrahepatic Cholestasis is related to cholestasis, progressive familial intrahepatic, 5 and cholestasis, progressive familial intrahepatic, 3. An important gene associated with Familial Intrahepatic Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1), 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 Estrogens and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Familial Intrahepatic Cholestasis

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 Familial Intrahepatic Cholestasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 33.5 TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
2 cholestasis, progressive familial intrahepatic, 3 32.9 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
3 cholestasis, progressive familial intrahepatic, 4 32.7 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
4 cholestasis, progressive familial intrahepatic, 2 32.2 TJP2 SLCO1B1 SLC10A2 NR1H4 ATP8B1 ABCC2
5 bile acid synthesis defect, congenital, 2 32.0 NR1H4 ABCB11
6 cholestasis, benign recurrent intrahepatic, 1 31.8 TMEM30A TJP2 SLC10A2 NR1H4 ATP8B1 ATP8A1
7 cholestasis, benign recurrent intrahepatic, 2 31.7 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
8 atp8b1 deficiency 31.4 NR1H4 ATP8B1 ABCB11
9 cholestasis, progressive familial intrahepatic, 1 31.2 TMEM30A TJP2 SLC10A2 NR1H4 LOC100505549 GGT1
10 alagille syndrome 1 30.8 ATP8B1 ABCB4 ABCB11
11 intrahepatic cholestasis of pregnancy 30.6 SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC2 ABCB4
12 cholelithiasis 30.6 NR1H4 GGT1 ABCB4
13 cholestasis, intrahepatic, of pregnancy 3 30.5 ABCB4 ABCB11
14 cholangitis 30.4 NR1H4 GGT1 ABCB4 ABCB11
15 liver disease 30.0 TJP2 NR1H4 GGT1 ATP8B1 ABCC2 ABCB4
16 cholestasis 29.7 TJP2 SLCO1B1 SLC10A2 NR1H4 GGT1 ATP8B1
17 biliary atresia 29.6 SLC10A2 NR1H4 GGT1 ATP8B1 ABCB4 ABCB11
18 cholestasis, intrahepatic, of pregnancy, 1 29.5 SLC10A2 NR1H4 GGT3P GGT1 ATP8B1 ABCC2
19 primary biliary cirrhosis 28.4 SLCO1B3 SLCO1B1 NR1H4 GGT1 ABCC2 ABCB4
20 progressive familial intrahepatic cholestasis 28.3 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4
21 bilirubin metabolic disorder 28.1 SLCO1B3 SLCO1B1 GGT1 ATP8B1 ABCC2 ABCB4
22 myo5b-related progressive familial intrahepatic cholestasis 12.5
23 bile acid synthesis defect, congenital, 1 12.2
24 arthrogryposis, renal dysfunction, and cholestasis 1 11.4
25 cholestasis-lymphedema syndrome 11.4
26 liver cirrhosis 10.6
27 autosomal recessive disease 10.5
28 diarrhea 10.4
29 portal hypertension 10.4
30 splenomegaly 10.4
31 autosomal dominant non-syndromic intellectual disability 3 10.3 ABCB4 ABCB11
32 parenteral nutrition-associated cholestasis 10.3 GGT1 ABCB4
33 perforation of bile duct 10.3 GGT1 ATP8B1
34 suppurative cholangitis 10.3 GGT1 ABCB4
35 colchicine resistance 10.3 ABCB11 ABCB1
36 hepatocellular carcinoma 10.3
37 sitosterolemia 10.2 ATP8B1 ABCB4 ABCB11
38 bile duct cysts 10.2 GGT1 ATP8B1 ABCB4
39 ataxia and polyneuropathy, adult-onset 10.2
40 rickets 10.2
41 47,xyy 10.2
42 common bile duct disease 10.2 GGT1 ABCB4
43 varicose veins 10.1
44 wilson disease 10.1
45 gallbladder disease 1 10.1
46 cholangiocarcinoma 10.1
47 lipid metabolism disorder 10.1
48 intrahepatic cholangiocarcinoma 10.1
49 acute liver failure 10.1
50 caroli disease 10.1 ATP8B1 ABCB4

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



Diseases related to Familial Intrahepatic Cholestasis

Symptoms & Phenotypes for Familial Intrahepatic Cholestasis

GenomeRNAi Phenotypes related to Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.36 GGT3P
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.36 GGT1 GGT3P
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.36 NR1H4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.36 GGT1 GGT3P
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.36 GGT1 GGT3P
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.36 NR1H4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 9.36 GGT1 GGT3P

MGI Mouse Phenotypes related to Familial Intrahepatic Cholestasis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABCB1 ABCB11 ABCB4 ABCC2 ATP8A1 ATP8B1
2 liver/biliary system MP:0005370 9.32 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 FABP6

Drugs & Therapeutics for Familial Intrahepatic Cholestasis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Estrogens
2 Liver Extracts
3 Bile Acids and Salts
4 Alpha 1-Antitrypsin
5 Protein C Inhibitor

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 An Open-label Extension Study to Evaluate Long-term Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 2) Recruiting NCT03659916 Phase 3 A4250 (odevixibat)
2 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
3 A Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study to Demonstrate Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 1) Active, not recruiting NCT03566238 Phase 3 A4250 (odevixibat);Placebo
4 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
5 Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Withdrawn NCT03353454 Phase 3 Maralixibat;Placebo
6 Open Label Study of the Efficacy and Long Term Safety of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Patients With Progressive Familial Intrahepatic Cholestasis Completed NCT02057718 Phase 2 LUM001
7 MRX-800: A Long-Term Safety Study of Maralixibat, an Apical Sodium Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Subjects Who Previously Participated in a Maralixibat Study Enrolling by invitation NCT04168385 Phase 2 Maralixibat
8 Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group. Completed NCT00700232
9 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
10 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
11 Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders Not yet recruiting NCT04071197
12 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC) Suspended NCT00571272
13 Longitudinal Study of Mitochondrial Hepatopathies Suspended NCT01148550

Search NIH Clinical Center for Familial Intrahepatic Cholestasis

Genetic Tests for Familial Intrahepatic Cholestasis

Anatomical Context for Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Familial Intrahepatic Cholestasis:

40
Liver, Pancreas, Testes, Bone, Placenta, Heart, Skeletal Muscle

Publications for Familial Intrahepatic Cholestasis

Articles related to Familial Intrahepatic Cholestasis:

(show top 50) (show all 586)
# Title Authors PMID Year
1
Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. 61
32492754 2020
2
Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2. 61
32443059 2020
3
NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure. 61
32443034 2020
4
The Largest Single Center Report on Pediatric Liver Transplantation: Experiences and Lessons Learned. 61
32541224 2020
5
Effects of partial internal biliary diversion on long-term outcomes in patients with progressive familial intrahepatic cholestasis: experience in 44 patients. 61
32206891 2020
6
Systematic Review and Meta-Analysis: Partial External Biliary Diversion in Progressive Familial Intrahepatic Cholestasis. 61
32433433 2020
7
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. 61
32229667 2020
8
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency. 61
32433800 2020
9
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
10
Nasobiliary drainage prior to surgical biliary diversion in progressive familial intrahepatic cholestasis type II. 61
32291498 2020
11
Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report. 61
32321542 2020
12
Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders. 61
32289814 2020
13
Drugs and hepatic transporters: A review. 61
31004787 2020
14
Successful Treatment with Rituximab and Immunoadsorption for an Auto-Antibody Induced Bile Salt Export Pump Deficiency in a Liver Transplanted Patient. 61
32206630 2020
15
Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2. 61
32205771 2020
16
Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients. 61
32309332 2020
17
ABCB4 disease: Many faces of one gene deficiency. 61
31759867 2020
18
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall. 61
31728073 2020
19
Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature. 61
32184942 2020
20
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report. 61
32089630 2020
21
NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure. 61
32097368 2020
22
Erratum to "Systematic review of progressive familial intrahepatic cholestasis" [Clin. Res. Hepatol. Gastroenterol. 43 (2019) 20-36]. 61
31926839 2020
23
Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2. 61
32508937 2020
24
Ocular manifestations of liver disease in children: Clinical aspects and implications. 61
31901314 2019
25
Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model. 61
31836711 2019
26
Prevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy. 61
31099022 2019
27
Plectin Mutations in Progressive Familial Intrahepatic Cholestasis. 61
31269534 2019
28
Ileal Exclusion for Pruritus Treatment in Children with Progressive Familial Intrahepatic Cholestasis and other Cholestatic Diseases. 61
31708211 2019
29
A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations. 61
31750554 2019
30
Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant. 61
31724928 2019
31
Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis. 61
31745229 2019
32
Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation. 61
31556146 2019
33
Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity. 61
31568708 2019
34
Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management. 61
31582009 2019
35
Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child. 61
31630127 2019
36
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1. 61
31555573 2019
37
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine. 61
30730833 2019
38
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing. 61
31160058 2019
39
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. 61
31400129 2019
40
Familial intrahepatic cholestasis: New and wide perspectives. 61
31105019 2019
41
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients. 61
31091858 2019
42
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. 61
30935993 2019
43
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 61
31083246 2019
44
Expanding etiology of progressive familial intrahepatic cholestasis. 61
31183005 2019
45
First report of successful transplantation of a pediatric donor liver graft after hypothermic machine perfusion. 61
30801955 2019
46
Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report. 61
31145285 2019
47
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 61
31015375 2019
48
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. 61
31083836 2019
49
Posttransplant epithelioid inflammatory myofibroblastic sarcoma: A case report. 61
30971562 2019
50
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. 61
31040306 2019

Variations for Familial Intrahepatic Cholestasis

Expression for Familial Intrahepatic Cholestasis

Search GEO for disease gene expression data for Familial Intrahepatic Cholestasis.

Pathways for Familial Intrahepatic Cholestasis

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 GGT3P GGT1
2
Show member pathways
13.21 SLCO1B3 SLCO1B1 ATP8B1 ATP8A1 ABCC2 ABCB4
3
Show member pathways
12.04 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 FABP6 ABCB11
4
Show member pathways
11.93 SLCO1B1 ABCC2 ABCB1
5
Show member pathways
11.9 SLCO1B1 ABCC2 ABCB4 ABCB11 ABCB1
6
Show member pathways
11.82 SLCO1B3 SLCO1B1 ABCC2 ABCB11 ABCB1
7
Show member pathways
11.61 SLCO1B3 SLCO1B1 ABCC2 ABCB1
8
Show member pathways
11.47 SLCO1B1 ABCC2 ABCB1
9
Show member pathways
11.4 SLCO1B3 ABCC2 ABCB1
10 11.25 SLCO1B3 SLCO1B1 ABCB1
11
Show member pathways
11.18 SLCO1B3 SLCO1B1 ABCB1
12 11.18 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 ABCC2 ABCB4
13 11.1 NR1H4 ABCC2 ABCB4 ABCB11 ABCB1
14 10.95 ABCC2 ABCB1
15 10.95 GGT3P GGT1
16 10.91 NR1H4 ABCB4 ABCB11
17
Show member pathways
10.86 SLCO1B3 SLCO1B1 ABCC2 ABCB1
18 10.83 ABCC2 ABCB1
19 10.74 ABCC2 ABCB1
20 10.58 SLCO1B1 NR1H4 ABCC2 ABCB11 ABCB1
21 10.55 ABCC2 ABCB1

GO Terms for Familial Intrahepatic Cholestasis

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 MARCHF6
2 plasma membrane GO:0005886 10.07 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 GGT3P
3 integral component of membrane GO:0016021 10 TMEM30A SLCO1B3 SLCO1B1 SLC10A2 MARCHF6 GGT3P
4 integral component of plasma membrane GO:0005887 9.91 SLCO1B3 SLCO1B1 SLC10A2 ATP8B1 ABCC2 ABCB4
5 apical plasma membrane GO:0016324 9.43 TMEM30A SLC10A2 ATP8B1 ABCC2 ABCB4 ABCB1
6 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.81 SLCO1B3 SLCO1B1 SLC10A2 ATP8A1 ABCD4 ABCC2
2 response to estradiol GO:0032355 9.77 GGT3P GGT1 ABCC2
3 phospholipid transport GO:0015914 9.67 TMEM30A ATP8B1 ATP8A1
4 lipid transport GO:0006869 9.65 TMEM30A FABP6 ATP8B1 ATP8A1 ABCB4
5 sodium-independent organic anion transport GO:0043252 9.61 SLCO1B3 SLCO1B1
6 glutathione biosynthetic process GO:0006750 9.59 GGT3P GGT1
7 bile acid metabolic process GO:0008206 9.58 NR1H4 ATP8B1
8 glutathione catabolic process GO:0006751 9.58 GGT3P GGT1
9 leukotriene D4 biosynthetic process GO:1901750 9.57 GGT3P GGT1
10 transepithelial transport GO:0070633 9.56 ABCC2 ABCB1
11 regulation of immune system process GO:0002682 9.55 GGT3P GGT1
12 cellular response to bile acid GO:1903413 9.54 NR1H4 ABCB4
13 aminophospholipid transport GO:0015917 9.52 TMEM30A ATP8B1
14 drug transmembrane transport GO:0006855 9.51 TMEM30A ATP8B1
15 organic anion transport GO:0015711 9.5 SLCO1B3 SLCO1B1 ABCC2
16 canalicular bile acid transport GO:0015722 9.48 ABCC2 ABCB11
17 drug transport across blood-brain barrier GO:1990962 9.46 ABCC2 ABCB1
18 ceramide translocation GO:0099040 9.43 ABCB4 ABCB1
19 positive regulation of phospholipid translocation GO:0061092 9.4 ATP8A1 ABCB4
20 peptide modification GO:0031179 9.37 GGT3P GGT1
21 phospholipid translocation GO:0045332 9.35 TMEM30A ATP8B1 ATP8A1 ABCB4 ABCB1
22 bile acid and bile salt transport GO:0015721 9.17 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 ATP8B1 ABCC2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.1 ATP8B1 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11
2 ATP binding GO:0005524 10.04 ATP8B1 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11
3 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.55 SLCO1B3 SLCO1B1
4 xenobiotic transmembrane transporter activity GO:0042910 9.54 ABCC2 ABCB1
5 bile acid transmembrane transporter activity GO:0015125 9.52 SLCO1B3 SLCO1B1
6 organic anion transmembrane transporter activity GO:0008514 9.51 SLCO1B3 ABCC2
7 glutathione hydrolase activity GO:0036374 9.48 GGT3P GGT1
8 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.46 GGT3P GGT1
9 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.43 GGT3P GGT1
10 ATPase activity GO:0016887 9.43 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1
11 phosphatidylcholine-translocating ATPase activity GO:0090554 9.4 ABCB4 ABCB1
12 peptidyltransferase activity GO:0000048 9.37 GGT3P GGT1
13 aminophospholipid transmembrane transporter activity GO:0015247 9.32 TMEM30A ATP8B1
14 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.26 ABCC2 ABCB1
15 ceramide-translocating ATPase activity GO:0099038 9.16 ABCB4 ABCB1
16 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1

Sources for Familial Intrahepatic Cholestasis

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
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