MCID: FML355
MIFTS: 41

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 29

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, 4, and has symptoms including pruritus, diarrhea and icterus. 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 Liver Extracts and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and pancreas, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased 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 120)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 33.6 TJP2 NR1H4 ATP8B1 ABCB11
2 cholestasis, progressive familial intrahepatic, 4 33.3 TJP2 SLC10A2 ATP8B1 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 3 32.8 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
4 cholestasis, progressive familial intrahepatic, 2 32.2 TMEM30A TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2
5 bile acid synthesis defect, congenital, 2 31.9 NR1H4 ABCB11
6 cholestasis, benign recurrent intrahepatic, 1 31.7 TMEM30A TJP2 SLC10A2 NR1H4 ATP8B1 ATP8A1
7 cholestasis, benign recurrent intrahepatic, 2 31.6 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
8 atp8b1 deficiency 31.4 NR1H4 ATP8B1 ABCB11
9 cholestasis, progressive familial intrahepatic, 1 31.1 TMEM30A TJP2 SLC10A2 NR1H4 LOC100505549 GGT1
10 alagille syndrome 1 30.7 ATP8B1 ABCB4 ABCB11
11 intrahepatic cholestasis of pregnancy 30.5 SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC2 ABCB4
12 cholelithiasis 30.5 NR1H4 GGT1 ABCB4
13 cholangitis 30.3 NR1H4 GGT1 ABCB4 ABCB11
14 liver disease 30.0 TJP2 NR1H4 GGT1 ATP8B1 ABCC2 ABCB4
15 cholestasis 29.7 TJP2 SLCO1B1 SLC10A2 NR1H4 GGT1 ATP8B1
16 biliary atresia 29.6 SLC10A2 NR1H4 GGT1 ATP8B1 ABCB4 ABCB11
17 cholestasis, intrahepatic, of pregnancy, 1 29.5 SLC10A2 NR1H4 GGT3P GGT1 ATP8B1 ABCC2
18 progressive familial intrahepatic cholestasis 28.2 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4
19 primary biliary cirrhosis 28.2 SLCO1B3 SLCO1B1 NR1H4 GGT1 ABCC2 ABCB4
20 myo5b-related progressive familial intrahepatic cholestasis 12.4
21 bile acid synthesis defect, congenital, 1 12.2
22 arthrogryposis, renal dysfunction, and cholestasis 1 11.4
23 cholestasis-lymphedema syndrome 11.4
24 liver cirrhosis 10.5
25 autosomal recessive disease 10.5
26 splenomegaly 10.4
27 portal hypertension 10.3
28 diarrhea 10.3
29 autosomal dominant non-syndromic intellectual disability 3 10.3 ABCB4 ABCB11
30 parenteral nutrition-associated cholestasis 10.3 GGT1 ABCB4
31 colchicine resistance 10.3 ABCB11 ABCB1
32 chronic cholangitis 10.3 ATP8B1 ABCB4
33 hepatocellular carcinoma 10.2
34 ataxia and polyneuropathy, adult-onset 10.2
35 cholestasis, intrahepatic, of pregnancy 3 10.2
36 47,xyy 10.2
37 common bile duct disease 10.1 GGT1 ABCB4
38 bile acid synthesis defect, congenital, 3 10.1 NR1H4 GGT1
39 varicose veins 10.1
40 wilson disease 10.1
41 gallbladder disease 1 10.1
42 rickets 10.1
43 acute liver failure 10.1
44 caroli disease 10.1 ATP8B1 ABCB4
45 bile duct cysts 10.1 GGT1 ATP8B1 ABCB4 ABCB11
46 sitosterolemia 10.0 ATP8B1 ABCC2 ABCB4 ABCB11
47 functional diarrhea 10.0 SLC10A2 NR1H4
48 pericholangitis 10.0 SLC10A2 ABCB4 ABCB11
49 autoimmune disease of urogenital tract 10.0 NR1H4 GGT1 ABCB4 ABCB11
50 gallbladder disease 10.0 NR1H4 GGT1 ABCB4 ABCB11

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



Diseases related to Familial Intrahepatic Cholestasis

Symptoms & Phenotypes for Familial Intrahepatic Cholestasis

UMLS symptoms related to Familial Intrahepatic Cholestasis:


pruritus, diarrhea, icterus

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.64 NR1H4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 NR1H4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.64 NR1H4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.64 GGT3P
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.64 GGT1 GGT3P
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.64 NR1H4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.64 NR1H4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 GGT1 GGT3P
9 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.64 GGT1 GGT3P
10 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.64 GGT1 GGT3P
11 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.64 GGT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.64 GGT1 GGT3P
13 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.64 GGT1 GGT3P NR1H4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.64 NR1H4

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):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3
2 Bile Acids and Salts Phase 2
3 Estrogens
4 Alpha 1-Antitrypsin
5 Protein C Inhibitor
6 Gastrointestinal Agents

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) 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) Not yet recruiting 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 Active, not recruiting 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 Not yet recruiting 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 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis Recruiting NCT00571272
10 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
11 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
12 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
13 Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders Not yet recruiting NCT04071197

Search NIH Clinical Center for Familial Intrahepatic Cholestasis

Genetic Tests for Familial Intrahepatic Cholestasis

Genetic tests related to Familial Intrahepatic Cholestasis:

# Genetic test Affiliating Genes
1 Familial Intrahepatic Cholestasis 29

Anatomical Context for Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Familial Intrahepatic Cholestasis:

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

Publications for Familial Intrahepatic Cholestasis

Articles related to Familial Intrahepatic Cholestasis:

(show top 50) (show all 569)
# Title Authors PMID Year
1
Erratum to "Systematic review of progressive familial intrahepatic cholestasis" [Clin. Res. Hepatol. Gastroenterol. 43 (2019) 20-36]. 61
31926839 2020
2
Ocular manifestations of liver disease in children: Clinical aspects and implications. 61
31901314 2019
3
Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model. 61
31836711 2019
4
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
5
Plectin Mutations in Progressive Familial Intrahepatic Cholestasis. 61
31269534 2019
6
Ileal Exclusion for Pruritus Treatment in Children with Progressive Familial Intrahepatic Cholestasis and other Cholestatic Diseases. 61
31708211 2019
7
Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant. 61
31724928 2019
8
Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis. 61
31745229 2019
9
A molecular mechanism underlying genotype-specific intrahepatic cholestasis resulting from MYO5B mutations. 61
31750554 2019
10
Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity. 61
31568708 2019
11
Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management. 61
31582009 2019
12
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
13
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall. 61
31728073 2019
14
ABCB4 disease: Many faces of one gene deficiency. 61
31759867 2019
15
Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child. 61
31630127 2019
16
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1. 61
31555573 2019
17
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine. 61
30730833 2019
18
Evaluation of Thyroid Function Tests in Children with Chronic Liver Diseases 61
31486329 2019
19
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing. 61
31160058 2019
20
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. 61
31400129 2019
21
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 2019
22
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients. 61
31091858 2019
23
Familial intrahepatic cholestasis: New and wide perspectives. 61
31105019 2019
24
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. 61
30935993 2019
25
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 61
31083246 2019
26
Expanding etiology of progressive familial intrahepatic cholestasis. 61
31183005 2019
27
First report of successful transplantation of a pediatric donor liver graft after hypothermic machine perfusion. 61
30801955 2019
28
Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report. 61
31145285 2019
29
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 61
31015375 2019
30
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. 61
31083836 2019
31
Drugs and hepatic transporters: A review. 61
31004787 2019
32
Posttransplant epithelioid inflammatory myofibroblastic sarcoma: A case report. 61
30971562 2019
33
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. 61
31040306 2019
34
Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine). 61
30509129 2019
35
Evaluation of Underlying Liver Disease and Its Severity in Children Referred for Liver Transplant: a Single-Center Report From Nemazee Hospital of Shiraz. 61
30836904 2019
36
Systematic review of progressive familial intrahepatic cholestasis. 61
30236549 2019
37
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges. 61
30366773 2019
38
Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis. 61
30664572 2019
39
Neurological Complications associated with Pediatric Liver Transplant in Namazi Hospital: One-Year Follow-Up. 61
30891167 2019
40
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2: Role of Surgery with Brief Review of Literature. 61
30686894 2019
41
Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. 61
30658709 2019
42
Targeting FXR in Cholestasis. 61
31201556 2019
43
Constitutive Androstane Receptor Differentially Regulates Bile Acid Homeostasis in Mouse Models of Intrahepatic Cholestasis. 61
30620001 2019
44
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 61
30416103 2019
45
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
46
[Clinical and pathological features of inherited metabolic liver disease in adults]. 61
30669779 2018
47
Long-term outcomes after cholecystocolostomy for progressive familial intrahepatic cholestasis. 61
29934967 2018
48
Progressive Familial Intrahepatic Cholestasis. 61
30266155 2018
49
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. 61
30357767 2018
50
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. 61
30036524 2018

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 11.1 NR1H4 ABCC2 ABCB4 ABCB11 ABCB1
13 11.08 SLCO1B3 SLCO1B1 SLC10A2 NR1H4 ABCC2 ABCB4
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 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.76 SLCO1B3 SLCO1B1 SLC10A2 ABCD4 ABCC2 ABCB4
2 phospholipid transport GO:0015914 9.69 TMEM30A ATP8B1 ATP8A1
3 lipid transport GO:0006869 9.65 TMEM30A FABP6 ATP8B1 ATP8A1 ABCB4
4 sodium-independent organic anion transport GO:0043252 9.59 SLCO1B3 SLCO1B1
5 glutathione biosynthetic process GO:0006750 9.58 GGT3P GGT1
6 bile acid metabolic process GO:0008206 9.58 NR1H4 ATP8B1
7 leukotriene D4 biosynthetic process GO:1901750 9.57 GGT3P GGT1
8 glutathione catabolic process GO:0006751 9.56 GGT3P GGT1
9 transepithelial transport GO:0070633 9.55 ABCC2 ABCB1
10 regulation of immune system process GO:0002682 9.54 GGT3P GGT1
11 organic anion transport GO:0015711 9.54 SLCO1B3 SLCO1B1 ABCC2
12 aminophospholipid transport GO:0015917 9.52 TMEM30A ATP8B1
13 drug transmembrane transport GO:0006855 9.5 TMEM30A ATP8B1 ABCC2
14 canalicular bile acid transport GO:0015722 9.49 ABCC2 ABCB11
15 drug transport across blood-brain barrier GO:1990962 9.48 ABCC2 ABCB1
16 ceramide translocation GO:0099040 9.46 ABCB4 ABCB1
17 positive regulation of phospholipid translocation GO:0061092 9.43 ATP8A1 ABCB4
18 peptide modification GO:0031179 9.4 GGT3P GGT1
19 phospholipid translocation GO:0045332 9.35 TMEM30A ATP8B1 ATP8A1 ABCB4 ABCB1
20 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 ATP binding GO:0005524 10.07 ATP8B1 ATP8A1 ABCD4 ABCC2 ABCB4 ABCB11
2 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.56 SLCO1B3 SLCO1B1
3 xenobiotic transmembrane transporter activity GO:0042910 9.55 ABCC2 ABCB1
4 bile acid transmembrane transporter activity GO:0015125 9.54 SLCO1B3 SLCO1B1
5 organic anion transmembrane transporter activity GO:0008514 9.51 SLCO1B3 ABCC2
6 glutathione hydrolase activity GO:0036374 9.49 GGT3P GGT1
7 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.48 GGT3P GGT1
8 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.46 GGT3P GGT1
9 peptidyltransferase activity GO:0000048 9.43 GGT3P GGT1
10 phosphatidylcholine-translocating ATPase activity GO:0090554 9.4 ABCB4 ABCB1
11 aminophospholipid transmembrane transporter activity GO:0015247 9.37 TMEM30A ATP8B1
12 ATPase activity GO:0016887 9.35 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1
13 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.32 ABCC2 ABCB1
14 ceramide-translocating ATPase activity GO:0099038 9.26 ABCB4 ABCB1
15 phosphatidylethanolamine-translocating ATPase activity GO:0090555 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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