Bilirubin metabolism disease

Summary

Bilirubin metabolism disease (MONDO:0024431) is a disease with 11 GWAS associations across 9 studies. A subtype of metabolic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bilirubin metabolism disease
Mondo ID	MONDO:0024431
SNOMED CT	80006005
UMLS	C0268305
MedGen	541273
Is cancer (heuristic)	no

Also known as: disorder of bilirubin metabolism

Data availability: 11 GWAS associations (9 studies).

Disease family

This is a subtype of metabolic disease. 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 developmental or physiological process › metabolic disease › bilirubin metabolism disease

Related subtypes (36): glutaric aciduria, mineral metabolism disease, xanthinuria, chondrocalcinosis, ochronosis disorder, glucose metabolism disease, diabetic kidney disease, xanthoma, diabetic retinopathy, hypertriglyceridemia, gout, lactic acidosis, acquired metabolic disease, lipodystrophy, developmental anomaly of metabolic origin, dopa-responsive dystonia, hypoalphalipoproteinemia, steroid dehydrogenase deficiency-dental anomalies syndrome, inborn errors of metabolism, vitamin B12 deficiency, proteostasis deficiencies, hyperlipidemia, disorder of GPI anchor biosynthesis, hyperlipoproteinemia, carbohydrate metabolism disease, porphyrin metabolism disease, purine metabolism disease, amino acid metabolism disease, pyrimidine metabolism disease, disorder of acid-base balance, disorder of glutamate decarboxylase, tumor lysis syndrome, collagenous sprue, steroid metabolism disease, disorder of organic acid metabolism, skeletal fluorosis

Subtypes (2): inborn disorder of bilirubin metabolism, hyperbilirubinemia

Genetics & variants

GWAS landscape

11 GWAS associations across 9 studies. Top hits map to 12 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2741012	1e-323	UGT1A12P - UGT1A11P	C	1.39
rs887829	9e-87	UGT1A6, UGT1A7, UGT1A8, UGT1A5, UGT1A10, UGT1A9, UGT1A4, UGT1A3	C	1.73
rs6742078	5e-80	UGT1A9, UGT1A6, UGT1A4, UGT1A5, UGT1A1, UGT1A3, UGT1A8, UGT1A7, UGT1A10	?	2.33
rs2900478	3e-17	SLCO1B1	T	0.28
chr12:21383516	3e-15		G	0.29
rs575215858	8e-12	POLR2DP2 - SNORA25B	G	3.79
rs534673636	1e-11	TRANK1	C	2.91
rs181575279	2e-11	MDFIC	G	3.42
rs182932447	3e-11	DPYS - MIR548A3	G	2.37

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475756	Verma A	2024	2,434	444,847	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90297609	Auwerx C	2024	680	296,371	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297663	Auwerx C	2024	680	296,371	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297759	Auwerx C	2024	680	296,371	Rare copy-number variants as modulators of common disease susceptibility.
GCST90476486	Verma A	2024	466	120,463	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479948	Verma A	2024	466	120,463	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435782	Zhou W	2018	365	407,537	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90476485	Verma A	2024	350	58,968	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90837437	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.

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	9

MAF distribution

Bucket	Variants
common (>=0.05)	5
low_freq (0.01-0.05)	0
rare (<0.01)	4
unknown	0

Functional consequences

Consequence	Count
intron_variant	5
intergenic_variant	3
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2741012	2	233600317	C>T	0.292	intergenic_variant	UGT1A12P - UGT1A11P	1e-323	Tier 4: intronic/intergenic
rs887829	2	233759924	C>A,G,T	0.327	intron_variant	UGT1A6, UGT1A7, UGT1A8, UGT1A5, UGT1A10, UGT1A9, UGT1A4, UGT1A3	9e-87	Tier 4: intronic/intergenic
rs6742078	2	233763993	G>T	0.05	intron_variant	UGT1A9, UGT1A6, UGT1A4, UGT1A5, UGT1A1, UGT1A3, UGT1A8, UGT1A7, UGT1A10	5e-80	Tier 4: intronic/intergenic
rs2900478	12	21215863	T>A	0.136	intron_variant	SLCO1B1	3e-17	Tier 4: intronic/intergenic
chr12:21383516				0.167			3e-15	Tier 4: intronic/intergenic
rs575215858	7	115504925	G>A,C	0.001	intergenic_variant	POLR2DP2 - SNORA25B	8e-12	Tier 4: intronic/intergenic
rs534673636	3	36871383	C>T	0	intron_variant	TRANK1	1e-11	Tier 4: intronic/intergenic
rs181575279	7	114943517	G>A,T	0	intron_variant	MDFIC	2e-11	Tier 4: intronic/intergenic
rs182932447	8	104468683	G>A	0.001	intergenic_variant	DPYS - MIR548A3	3e-11	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: 0.