ATP8B1 and Cholestasis, Progressive Familial Intrahepatic, 3: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

ATP8B1

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Cholestasis, Progressive Familial Intrahepatic, 3

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Phenotype

15 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Mechanism overlap

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Literature

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Provenance

9 references

Every source and publication cited across this dossier, as one numbered reference list.