Synovial bursa disorder

Summary

Synovial bursa disorder (MONDO:0056802) is a disease with 2 GWAS associations across 6 studies. A subtype of synovium disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	synovial bursa disorder
Mondo ID	MONDO:0056802
SNOMED CT	10597006
UMLS	C0263946
MedGen	538213
Anatomy (UBERON)	UBERON:0003668
Is cancer (heuristic)	no

Also known as: disease of synovial bursa · disease or disorder of synovial bursa · disorder of bursa · disorder of synovial bursa · synovial bursa disease or disorder

Data availability: 2 GWAS associations (6 studies).

Disease family

This is a subtype of synovium 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 › musculoskeletal system disorder › synovium disorder › synovial bursa disorder

Related subtypes (3): synovial plica syndrome, synovitis, synovium neoplasm

Subtypes (1): bursitis

Genetics & variants

GWAS landscape

2 GWAS associations across 6 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs8057620	1e-18	WWP2	A	0.06

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476241	Verma A	2024	54,288	355,287	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478946	Verma A	2024	15,974	93,577	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480520	Verma A	2024	15,974	93,577	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478944	Verma A	2024	7,759	46,538	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436681	Zhou W	2018	7,629	378,711	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90478945	Verma A	2024	643	5,659	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	1

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs8057620	16	69850716	A>C,T	0.45	intron_variant	WWP2	1e-18	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.