Ganglion or cyst of synovium/tendon/bursa

Summary

Ganglion or cyst of synovium/tendon/bursa (MONDO:0004874) is a disease with 3 GWAS associations across 9 studies. A subtype of arthropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ganglion or cyst of synovium/tendon/bursa
Mondo ID	MONDO:0004874
DOID	DOID:9754
UMLS	C0349693
MedGen	578881
Is cancer (heuristic)	no

Data availability: 3 GWAS associations (9 studies).

Disease family

This is a subtype of arthropathy. 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 › skeletal system disorder › arthropathy › ganglion or cyst of synovium/tendon/bursa

Related subtypes (23): transient arthropathy, synovial plica syndrome, hypermobility syndrome, Tietze syndrome, neurogenic arthropathy, Behcet syndrome arthropathy, ankylosis, bursitis, synovium neoplasm, hydrarthrosis, articular cartilage disorder, hemarthrosis, tenosynovitis, spondyloarthropathy, temporomandibular joint disorder, arthritic joint disease, de Quervain disease, frozen shoulder, patellofemoral pain syndrome, secondary hypertrophic osteoarthropathy, shoulder impingement syndrome, crystal arthropathy, vertebral joint disorder

Genetics & variants

GWAS landscape

3 GWAS associations across 9 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
rs4802855	2e-29	HAS1	G	0.18
chr19:52223961	7e-23		T	0.19
rs75387318	5e-08	LINC01478 - SETBP1-DT	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476243	Verma A	2024	8,083	433,605	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080522	Backman JD	2021	3,644	381,796	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084508	Backman JD	2021	3,644	381,796	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90436684	Zhou W	2018	3,185	378,711	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90044563	Jiang L	2021	2,951	453,397	A generalized linear mixed model association tool for biobank-scale data.
GCST90478953	Verma A	2024	2,742	116,301	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480518	Verma A	2024	2,742	116,301	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478952	Verma A	2024	1,159	57,579	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651699	Liu TY	2025	295	210,582	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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	3

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	2
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs4802855	19	51720918	G>A,C,T	0.298	intron_variant	HAS1	2e-29	Tier 4: intronic/intergenic
chr19:52223961				0.292			7e-23	Tier 4: intronic/intergenic
rs75387318	18	44584657	C>G		intron_variant	LINC01478 - SETBP1-DT	5e-08	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.