Gene-Disorder Association · Article
Gene
ATP8B1 ATPase Phospholipid Transporting 8B1
×
First reported
2004
Supporting publications
23
Manually curated Approved treatment annotated
Association Review
In brief The association between ATP8B1 (ATPase Phospholipid Transporting 8B1) and Progressive Familial Intrahepatic Cholestasis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources
2
Clinical variants
25
Symptoms
17
Compounds
1
Trials
2 of 20 via ATP8B1 compounds
Publications
23
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
Request access 02
Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 1 source summary
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Progressive Familial Intrahepatic Cholestasis
The disorder 8 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 14 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
Request access 06
ClinVar and variant evidence
Genetic basis 25 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
Request access 07
Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
Request access 08
Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
Request access 09
Human studies
Clinical trials 20 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 23 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 11
Provenance
References & sources 16 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
