Non-neoplastic bile duct disorder

Summary

Non-neoplastic bile duct disorder (MONDO:0006322) is a disease (an umbrella term covering 5 Mondo subtypes) with 4 GWAS associations across 8 studies and 1 clinical trial. A subtype of bile duct disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes
• GWAS associations: 4
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	non-neoplastic bile duct disorder
Mondo ID	MONDO:0006322
EFO	EFO:1000400
NCIT	C35774
UMLS	C3275160
MedGen	476793
Is cancer (heuristic)	no

Also known as: non-neoplastic bile duct disorder

Data availability: 4 GWAS associations (8 studies).

Disease family

This is a subtype of bile duct disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › bile duct disorder › non-neoplastic bile duct disorder

Related subtypes (6): perforation of bile duct, cholestasis, common bile duct disorder, bile duct cyst, bile duct neoplasm, fibrosis of bile duct

Subtypes (5): cholangitis, extrahepatic cholestasis, obstructive jaundice, biliary atresia, Caroli disease

Genetics & variants

GWAS landscape

4 GWAS associations across 8 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs954257525	2e-14	WNK2	A	2.82
rs112782182	1e-11	WDR59	T	2.23
rs187605048	5e-11	HNRNPA1P4 - DPPA3P9	A	3.67
rs781851814	6e-07	ABCD1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478470	Verma A	2024	3,378	444,760	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436385	Zhou W	2018	2,634	391,307	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90044197	Jiang L	2021	2,456	453,892	A generalized linear mixed model association tool for biobank-scale data.
GCST90652172	Liu TY	2025	1,829	224,366	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90044200	Jiang L	2021	545	455,803	A generalized linear mixed model association tool for biobank-scale data.
GCST90480351	Verma A	2024	497	120,805	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482184	Verma A	2024	497	120,805	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482183	Verma A	2024	470	58,971	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	4

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	3
unknown	1

Functional consequences

Consequence	Count
intron_variant	4

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs954257525	9	93240734	A>C,T	0	intron_variant	WNK2	2e-14	Tier 4: intronic/intergenic
rs112782182	16	74884776	T>G	0.001	intron_variant	WDR59	1e-11	Tier 4: intronic/intergenic
rs187605048	8	82442102	A>C,G	0	intron_variant	HNRNPA1P4 - DPPA3P9	5e-11	Tier 4: intronic/intergenic
rs781851814	X	153730950	T>C		intron_variant	ABCD1	6e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05147389	Not specified	COMPLETED	Artificial Intelligence for Digital Cholangioscopy Neoplasia Diagnosis