PFIC
MCID: PRG047
MIFTS: 62

Progressive Familial Intrahepatic Cholestasis (PFIC)

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

Aliases & Classifications for Progressive Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Progressive Familial Intrahepatic Cholestasis:

Name: Progressive Familial Intrahepatic Cholestasis 12 25 58 36 6 15
Cholestasis, Intrahepatic, Familial, Progressive 39
Cholestasis, Progressive Familial Intrahepatic, 6
Cholestasis, Progressive Familial Intrahepatic 74
Low Γ-Gt Familial Intrahepatic Cholestasis 25
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Abcb4-Related Intrahepatic Cholestasis 25
Pfic; Byler Disease 12
Mdr3 Deficiency 25
Bsep Deficiency 25
Fic1 Deficiency 25
Byler Syndrome 25
Byler Disease 25
Pfic 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070221
KEGG 36 H00624
ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 72 C0268312
Orphanet 58 ORPHA172
UMLS 71 C0268312

Summaries for Progressive Familial Intrahepatic Cholestasis

Genetics Home Reference : 25 Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly). There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause. In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood. The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma. Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.

MalaCards based summary : Progressive Familial Intrahepatic Cholestasis, also known as cholestasis, intrahepatic, familial, progressive, is related to cholestasis, progressive familial intrahepatic, 5 and cholestasis, progressive familial intrahepatic, 4. An important gene associated with Progressive Familial Intrahepatic Cholestasis is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Bile secretion and Cholesterol metabolism. The drugs Liver Extracts and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotypes are failure to thrive and splenomegaly

Disease Ontology : 12 An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

KEGG : 36 Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The course of the disease involves portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma along with several extra hepatic manifestations. The pathogenesis of PFIC revolves around defective bile acid synthesis, transport, and/or excretion.

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

Related Diseases for Progressive 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 Progressive Familial Intrahepatic Cholestasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 34.1 TJP2 NR1H4 ATP8B1 ABCB11
2 cholestasis, progressive familial intrahepatic, 4 33.8 TJP2 SLC10A2 ATP8B1 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 3 33.3 TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCG5
4 cholestasis, progressive familial intrahepatic, 2 33.0 TMEM30A TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1
5 cholestasis, progressive familial intrahepatic, 1 32.6 TMEM30A TJP2 SLC10A2 SLC10A1 NR1H4 LOC100505549
6 bile acid synthesis defect, congenital, 2 32.5 SLC10A1 NR1H4 ABCB11
7 cholestasis, benign recurrent intrahepatic, 1 31.9 TMEM30A TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1
8 atp8b1 deficiency 31.7 NR1H4 ATP8B1 ABCB11
9 alagille syndrome 1 31.0 ATP8B1 ABCB4 ABCB11
10 cholangitis 30.9 NR1H4 GGT1 ABCB4 ABCB11
11 cholestasis, intrahepatic, of pregnancy, 1 30.7 SLC10A2 NR1H4 GGT3P GGT1 ATP8B1 ABCC2
12 cholestasis 30.7 USP53 TJP2 SLCO1B1 SLC10A2 SLC10A1 NR1H4
13 cholelithiasis 30.6 NR1H4 GGT1 ABCG5 ABCB4
14 liver disease 30.5 TJP2 SLC10A1 NR1H4 GGT1 ATP8B1 ABCC2
15 intrahepatic cholestasis of pregnancy 30.3 SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC2 ABCB4
16 biliary atresia 30.3 SLC10A2 SLC10A1 NR1H4 GGT1 ATP8B1 ABCB4
17 bilirubin metabolic disorder 29.8 SLCO1B3 SLCO1B1 GGT1 ATP8B1 ABCC2 ABCB4
18 primary biliary cirrhosis 29.7 SLCO1B3 SLCO1B1 SLC10A1 NR1H4 GGT1 ABCC2
19 cholestasis, benign recurrent intrahepatic, 2 29.5 TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCG5
20 familial intrahepatic cholestasis 29.4 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4
21 myo5b-related progressive familial intrahepatic cholestasis 12.6
22 bile acid synthesis defect, congenital, 1 12.3
23 arthrogryposis, renal dysfunction, and cholestasis 1 11.4
24 liver cirrhosis 10.6
25 autosomal recessive disease 10.5
26 autosomal dominant non-syndromic intellectual disability 3 10.4 ABCB4 ABCB11
27 parenteral nutrition-associated cholestasis 10.4 GGT1 ABCB4
28 portal hypertension 10.4
29 diarrhea 10.4
30 cerebellar ataxia, mental retardation and dysequlibrium syndrome 10.4 TMEM30A ATP8B1
31 colchicine resistance 10.4 ABCB11 ABCB1
32 splenomegaly 10.4
33 functional diarrhea 10.4 SLC10A2 NR1H4
34 chronic cholangitis 10.3 ATP8B1 ABCB4
35 bile duct cysts 10.3 GGT1 ATP8B1 ABCB4 ABCB11
36 methotrexate toxicity 10.3 SLCO1B1 ABCB1
37 47,xyy 10.3
38 bile acid synthesis defect, congenital, 3 10.2 NR1H4 GGT1
39 hyperbilirubinemia, rotor type 10.2 SLCO1B3 SLCO1B1 ABCC2
40 pericholangitis 10.2 SLC10A2 SLC10A1 ABCB4 ABCB11
41 common bile duct disease 10.2 GGT1 ABCB4
42 hepatocellular carcinoma 10.2
43 varicose veins 10.2
44 wilson disease 10.2
45 ataxia and polyneuropathy, adult-onset 10.2
46 gallbladder disease 1 10.2
47 cholestasis, intrahepatic, of pregnancy 3 10.2
48 rickets 10.2
49 acute liver failure 10.2
50 sclerosing cholangitis 10.1 NR1H4 GGT1 ABCC2 ABCB4 ABCB11

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



Diseases related to Progressive Familial Intrahepatic Cholestasis

Symptoms & Phenotypes for Progressive Familial Intrahepatic Cholestasis

Human phenotypes related to Progressive Familial Intrahepatic Cholestasis:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
7 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
8 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
9 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
10 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
11 hypocalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0002901
12 abnormal thrombocyte morphology 31 frequent (33%) HP:0001872
13 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
14 abnormality of thrombocytes 58 Frequent (79-30%)
15 cholestasis 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Progressive Familial Intrahepatic Cholestasis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABCB1 ABCB11 ABCB4 ABCC2 ABCG5 ATP8B1
2 liver/biliary system MP:0005370 9.36 ABCB1 ABCB11 ABCB4 ABCC2 ABCG5 ATP8B1

Drugs & Therapeutics for Progressive Familial Intrahepatic Cholestasis

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3
2 Bile Acids and Salts Phase 2
3
Glycerol Approved, Investigational 56-81-5 753
4 Estrogens
5 Lecithin
6 Alpha 1-Antitrypsin
7 Protein C Inhibitor
8 Gastrointestinal Agents
9 4-phenylbutyric acid
10 Protective Agents

Interventional clinical trials:

(show all 19)
# 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 Efficacy and Tolerance of RADIOEMBOLIZATION for Patients With Unresectable Intrahepatic Cholangiocarcinoma With Tumor Progression After First-line Therapy Terminated NCT01383746 Phase 1, Phase 2
9 Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group. Completed NCT00700232
10 Intralumenal Effects on Cholesterol Absorption/Synthesis Completed NCT00328211 Pluronic F-68
11 Search for Maternal Microchimerism in Swollen Portal Lymph Nodes of Infants With Biliary Atresia. Completed NCT02292862
12 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis Recruiting NCT00571272
13 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
14 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
15 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
16 Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders Not yet recruiting NCT04071197
17 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
18 Compassionate Use of Buphenyl® in the Treatment of Byler's Disease No longer available NCT01784718 Buphenyl
19 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease No longer available NCT02094222 RAVICTI

Search NIH Clinical Center for Progressive Familial Intrahepatic Cholestasis

Genetic Tests for Progressive Familial Intrahepatic Cholestasis

Anatomical Context for Progressive Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Progressive Familial Intrahepatic Cholestasis:

40
Liver, Skin, Eye, Spleen, Pancreas, Bone, Lymph Node

Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

(show top 50) (show all 501)
# 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
Plectin Mutations in Progressive Familial Intrahepatic Cholestasis. 61
31269534 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
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
6
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall. 61
31728073 2019
7
Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity. 61
31568708 2019
8
Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management. 61
31582009 2019
9
Ileal Exclusion for Pruritus Treatment in Children with Progressive Familial Intrahepatic Cholestasis and other Cholestatic Diseases. 61
31708211 2019
10
Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis. 61
31745229 2019
11
A molecular mechanism underlying genotype-specific intrahepatic cholestasis resulting from MYO5B mutations. 61
31750554 2019
12
Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant. 61
31724928 2019
13
ABCB4 disease: Many faces of one gene deficiency. 61
31759867 2019
14
Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child. 61
31630127 2019
15
Evaluation of Thyroid Function Tests in Children with Chronic Liver Diseases 61
31486329 2019
16
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine. 61
30730833 2019
17
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1. 61
31555573 2019
18
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing. 61
31160058 2019
19
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. 61
31400129 2019
20
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. 61
30935993 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
Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report. 61
31145285 2019
25
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 61
31015375 2019
26
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 61
31083246 2019
27
Expanding etiology of progressive familial intrahepatic cholestasis. 61
31183005 2019
28
First report of successful transplantation of a pediatric donor liver graft after hypothermic machine perfusion. 61
30801955 2019
29
Drugs and hepatic transporters: A review. 61
31004787 2019
30
Posttransplant epithelioid inflammatory myofibroblastic sarcoma: A case report. 61
30971562 2019
31
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. 61
31040306 2019
32
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. 61
31083836 2019
33
Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine). 61
30509129 2019
34
Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis. 61
30664572 2019
35
Systematic review of progressive familial intrahepatic cholestasis. 61
30236549 2019
36
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges. 61
30366773 2019
37
Constitutive Androstane Receptor Differentially Regulates Bile Acid Homeostasis in Mouse Models of Intrahepatic Cholestasis. 61
30620001 2019
38
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 61
30416103 2019
39
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
40
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2: Role of Surgery with Brief Review of Literature. 61
30686894 2019
41
Neurological Complications associated with Pediatric Liver Transplant in Namazi Hospital: One-Year Follow-Up. 61
30891167 2019
42
Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. 61
30658709 2019
43
Targeting FXR in Cholestasis. 61
31201556 2019
44
Long-term outcomes after cholecystocolostomy for progressive familial intrahepatic cholestasis. 61
29934967 2018
45
[Clinical and pathological features of inherited metabolic liver disease in adults]. 61
30669779 2018
46
Surgical management of children and adolescents with upfront completely resected hepatocellular carcinoma. 61
29968976 2018
47
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. 61
30357767 2018
48
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. 61
30036524 2018
49
Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 61
30416319 2018
50
Progressive Familial Intrahepatic Cholestasis. 61
30266155 2018

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Progressive Familial Intrahepatic Cholestasis:

6 (show top 50) (show all 152) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 USP53 NM_019050.2(USP53):c.1012C>T (p.Arg338Ter)SNV Pathogenic 694273 4:120188514-120188514 4:119267359-119267359
3 ATP8B1 NM_005603.6(ATP8B1):c.3696G>A (p.Ser1232=)SNV Conflicting interpretations of pathogenicity 327466 rs754912569 18:55315780-55315780 18:57648548-57648548
4 ATP8B1 NM_005603.6(ATP8B1):c.2988C>T (p.Pro996=)SNV Conflicting interpretations of pathogenicity 327471 rs776385207 18:55321251-55321251 18:57654019-57654019
5 ATP8B1 NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=)SNV Conflicting interpretations of pathogenicity 327475 rs199716374 18:55328476-55328476 18:57661244-57661244
6 ATP8B1 NM_005603.6(ATP8B1):c.1711G>A (p.Ala571Thr)SNV Conflicting interpretations of pathogenicity 327485 rs35140429 18:55342174-55342174 18:57674942-57674942
7 ABCB4 NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=)SNV Conflicting interpretations of pathogenicity 360790 rs886062459 7:87035718-87035718 7:87406402-87406402
8 ABCB4 NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)SNV Conflicting interpretations of pathogenicity 360799 rs553616378 7:87056192-87056192 7:87426876-87426876
9 ABCB4 NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)SNV Conflicting interpretations of pathogenicity 360791 rs561612231 7:87035805-87035805 7:87406489-87406489
10 ATP8B1 NM_005603.6(ATP8B1):c.1072G>A (p.Gly358Ser)SNV Conflicting interpretations of pathogenicity 327489 rs193204986 18:55359187-55359187 18:57691955-57691955
11 ATP8B1 NM_005603.6(ATP8B1):c.-48C>TSNV Conflicting interpretations of pathogenicity 327498 rs150844949 18:55470255-55470255 18:57803023-57803023
12 ATP8B1 NM_005603.6(ATP8B1):c.-22-9T>CSNV Conflicting interpretations of pathogenicity 327496 rs35671095 18:55399070-55399070 18:57731838-57731838
13 ATP8B1 NM_005603.6(ATP8B1):c.150A>G (p.Glu50=)SNV Conflicting interpretations of pathogenicity 195247 rs137973298 18:55398890-55398890 18:57731658-57731658
14 ABCB11 NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)SNV Conflicting interpretations of pathogenicity 195750 rs145720664 2:169791807-169791807 2:168935297-168935297
15 ABCB4 NM_000443.4(ABCB4):c.1893+6T>CSNV Conflicting interpretations of pathogenicity 256159 rs8187798 7:87060714-87060714 7:87431398-87431398
16 ABCB4 NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)SNV Conflicting interpretations of pathogenicity 282951 rs2230029 7:87038596-87038596 7:87409280-87409280
17 ABCB11 NM_003742.4(ABCB11):c.930C>T (p.Phe310=)SNV Conflicting interpretations of pathogenicity 289538 rs372382608 2:169842773-169842773 2:168986263-168986263
18 ABCB11 NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=)SNV Conflicting interpretations of pathogenicity 332020 rs113099601 2:169787256-169787256 2:168930746-168930746
19 ABCB11 NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser)SNV Conflicting interpretations of pathogenicity 332035 rs572222881 2:169836449-169836449 2:168979939-168979939
20 ABCB11 NM_003742.4(ABCB11):c.810G>A (p.Glu270=)SNV Conflicting interpretations of pathogenicity 332037 rs369671177 2:169847409-169847409 2:168990899-168990899
21 ATP8B1 NM_005603.6(ATP8B1):c.1177A>G (p.Ile393Val)SNV Conflicting interpretations of pathogenicity 259815 rs34315917 18:55359082-55359082 18:57691850-57691850
22 ABCB11 NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)SNV Conflicting interpretations of pathogenicity 332036 rs369132677 2:169836460-169836460 2:168979950-168979950
23 ABCB11 NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)SNV Conflicting interpretations of pathogenicity 332022 rs199940188 2:169791823-169791823 2:168935313-168935313
24 ABCB4 NM_000443.4(ABCB4):c.696C>T (p.Ala232=)SNV Conflicting interpretations of pathogenicity 360803 rs8187791 7:87080951-87080951 7:87451635-87451635
25 ABCB4 NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=)SNV Uncertain significance 360792 rs376825608 7:87037401-87037401 7:87408085-87408085
26 ABCB4 NM_000443.4(ABCB4):c.1982G>A (p.Arg661His)SNV Uncertain significance 360797 rs532332220 7:87056148-87056148 7:87426832-87426832
27 ABCB4 NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val)SNV Uncertain significance 360798 rs367709575 7:87056160-87056160 7:87426844-87426844
28 ABCB4 NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)SNV Uncertain significance 360802 rs199504845 7:87076428-87076428 7:87447112-87447112
29 ABCB11 NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)SNV Uncertain significance 332027 rs372757355 2:169801210-169801210 2:168944700-168944700
30 ABCB11 NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)SNV Uncertain significance 332029 rs539087982 2:169820802-169820802 2:168964292-168964292
31 ABCB11 NM_003742.4(ABCB11):c.2075+7T>ASNV Uncertain significance 332030 rs768511849 2:169824930-169824930 2:168968420-168968420
32 ABCB11 NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile)SNV Uncertain significance 332032 rs886055066 2:169826665-169826665 2:168970155-168970155
33 ABCB11 NM_003742.4(ABCB11):c.-78C>TSNV Uncertain significance 332039 rs746730049 2:169887785-169887785 2:169031275-169031275
34 ABCB11 NM_003742.4(ABCB11):c.*252T>ASNV Uncertain significance 332016 rs886055060 2:169779880-169779880 2:168923370-168923370
35 ABCB11 NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His)SNV Uncertain significance 332021 rs886055062 2:169788910-169788910 2:168932400-168932400
36 ABCB11 NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys)SNV Uncertain significance 332025 rs755362375 2:169792754-169792754 2:168936244-168936244
37 ABCB11 NM_003742.4(ABCB11):c.2016A>T (p.Ala672=)SNV Uncertain significance 332031 rs886055065 2:169824996-169824996 2:168968486-168968486
38 ABCB11 NM_003742.4(ABCB11):c.1638+6C>GSNV Uncertain significance 332033 rs886055067 2:169828351-169828351 2:168971841-168971841
39 ABCB11 NM_003742.4(ABCB11):c.*237T>CSNV Uncertain significance 332017 rs548624200 2:169779895-169779895 2:168923385-168923385
40 ABCB11 NM_003742.4(ABCB11):c.*193G>CSNV Uncertain significance 332019 rs886055061 2:169779939-169779939 2:168923429-168923429
41 ABCB11 NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu)SNV Uncertain significance 332023 rs886055063 2:169791845-169791845 2:168935335-168935335
42 ABCB11 NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)SNV Uncertain significance 332024 rs200857579 2:169791916-169791916 2:168935406-168935406
43 ABCB11 NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr)SNV Uncertain significance 332026 rs886055064 2:169801132-169801132 2:168944622-168944622
44 ABCB11 NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=)SNV Uncertain significance 332028 rs762791891 2:169820731-169820731 2:168964221-168964221
45 ABCB11 NM_003742.4(ABCB11):c.800C>T (p.Thr267Met)SNV Uncertain significance 332038 rs886055069 2:169847419-169847419 2:168990909-168990909
46 ABCB11 NM_003742.4(ABCB11):c.*533C>ASNV Uncertain significance 332010 rs886055058 2:169779599-169779599 2:168923089-168923089
47 ABCB11 NM_003742.4(ABCB11):c.*509C>TSNV Uncertain significance 332011 rs886055059 2:169779623-169779623 2:168923113-168923113
48 ABCB11 NM_003742.4(ABCB11):c.*281T>GSNV Uncertain significance 332015 rs3732038 2:169779851-169779851 2:168923341-168923341
49 ABCB11 NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)SNV Uncertain significance 290851 rs141862495 2:169820807-169820807 2:168964297-168964297
50 ABCB11 NM_003742.4(ABCB11):c.*440G>ASNV Uncertain significance 332012 rs79130028 2:169779692-169779692 2:168923182-168923182

Cosmic variations for Progressive Familial Intrahepatic Cholestasis:

9 (show top 50) (show all 15626)
# 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

Expression for Progressive Familial Intrahepatic Cholestasis

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

Pathways for Progressive Familial Intrahepatic Cholestasis

Pathways related to Progressive Familial Intrahepatic Cholestasis according to KEGG:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976
2 Cholesterol metabolism hsa04979
3 Tight junction hsa04530

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 GGT3P
2
Show member pathways
13.23 SLCO1B3 SLCO1B1 ATP8B1 ABCG5 ABCC2 ABCB4
3
Show member pathways
12.04 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 FABP6
4
Show member pathways
11.93 SLCO1B1 ABCC2 ABCB1
5
Show member pathways
11.89 SLCO1B3 SLCO1B1 ABCC2 ABCB11 ABCB1
6
Show member pathways
11.89 SLCO1B1 SLC10A1 ABCC2 ABCB4 ABCB11 ABCB1
7
Show member pathways
11.83 ABCG5 ABCB11 ABCB1
8
Show member pathways
11.63 SLCO1B3 SLCO1B1 ABCC2 ABCB1
9
Show member pathways
11.48 SLCO1B1 ABCC2 ABCB1
10
Show member pathways
11.42 SLCO1B3 ABCC2 ABCB1
11 11.27 SLCO1B3 SLCO1B1 ABCB1
12
Show member pathways
11.18 SLCO1B3 SLCO1B1 ABCB1
13 11.18 NR1H4 ABCG5 ABCC2 ABCB4 ABCB11 ABCB1
14 11.18 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 ABCG5
15
Show member pathways
11.01 SLCO1B3 SLCO1B1 ABCC2 ABCB1
16 10.96 ABCC2 ABCB1
17 10.95 GGT3P GGT1
18 10.95 SLC10A1 NR1H4 ABCB4 ABCB11
19 10.83 ABCC2 ABCB1
20 10.74 ABCC2 ABCB1
21 10.66 SLCO1B1 SLC10A1 NR1H4 ABCC2 ABCB11 ABCB1
22 10.55 ABCC2 ABCB1

GO Terms for Progressive Familial Intrahepatic Cholestasis

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1
2 plasma membrane GO:0005886 10.17 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1
3 integral component of membrane GO:0016021 10.13 TMEM30A SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 MARCHF6
4 integral component of plasma membrane GO:0005887 9.81 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 ATP8B1 ABCG5
5 ATP-binding cassette (ABC) transporter complex GO:0043190 9.37 ABCG5 ABCD4
6 apical plasma membrane GO:0016324 9.17 TMEM30A SLC10A2 ATP8B1 ABCG5 ABCC2 ABCB4
7 intercellular canaliculus GO:0046581 9.13 ABCC2 ABCB4 ABCB11

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.72 TMEM30A FABP6 ATP8B1 ABCG5 ABCB4
2 transmembrane transport GO:0055085 9.65 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 ABCG5 ABCD4
3 sodium-independent organic anion transport GO:0043252 9.58 SLCO1B3 SLCO1B1
4 glutathione biosynthetic process GO:0006750 9.57 GGT3P GGT1
5 bile acid metabolic process GO:0008206 9.56 NR1H4 ATP8B1
6 leukotriene D4 biosynthetic process GO:1901750 9.55 GGT3P GGT1
7 glutathione catabolic process GO:0006751 9.54 GGT3P GGT1
8 organic anion transport GO:0015711 9.54 SLCO1B3 SLCO1B1 ABCC2
9 transepithelial transport GO:0070633 9.52 ABCC2 ABCB1
10 regulation of immune system process GO:0002682 9.51 GGT3P GGT1
11 aminophospholipid transport GO:0015917 9.49 TMEM30A ATP8B1
12 canalicular bile acid transport GO:0015722 9.48 ABCC2 ABCB11
13 drug transport across blood-brain barrier GO:1990962 9.46 ABCC2 ABCB1
14 phospholipid translocation GO:0045332 9.46 TMEM30A ATP8B1 ABCB4 ABCB1
15 ceramide translocation GO:0099040 9.43 ABCB4 ABCB1
16 drug transmembrane transport GO:0006855 9.43 TMEM30A ATP8B1 ABCC2
17 peptide modification GO:0031179 9.4 GGT3P GGT1
18 bile acid and bile salt transport GO:0015721 9.23 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 ATP8B1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.1 ATP8B1 ABCG5 ABCD4 ABCC2 ABCB4 ABCB11
2 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.57 SLCO1B3 SLCO1B1
3 xenobiotic transmembrane transporter activity GO:0042910 9.55 ABCC2 ABCB1
4 organic anion transmembrane transporter activity GO:0008514 9.54 SLCO1B3 ABCC2
5 glutathione hydrolase activity GO:0036374 9.52 GGT3P GGT1
6 bile acid:sodium symporter activity GO:0008508 9.51 SLC10A2 SLC10A1
7 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.49 GGT3P GGT1
8 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.48 GGT3P GGT1
9 peptidyltransferase activity GO:0000048 9.46 GGT3P GGT1
10 phosphatidylcholine-translocating ATPase activity GO:0090554 9.43 ABCB4 ABCB1
11 ATPase activity GO:0016887 9.43 ABCG5 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1
12 aminophospholipid transmembrane transporter activity GO:0015247 9.4 TMEM30A ATP8B1
13 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.37 ABCC2 ABCB1
14 bile acid transmembrane transporter activity GO:0015125 9.33 SLCO1B3 SLCO1B1 SLC10A1
15 ceramide-translocating ATPase activity GO:0099038 9.32 ABCB4 ABCB1
16 phosphatidylethanolamine-translocating ATPase activity GO:0090555 9.26 ABCB4 ABCB1
17 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.1 ABCG5 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1

Sources for Progressive 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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