Connective tissue neoplasm

Summary

Connective tissue neoplasm (MONDO:0021581) is a cancer (an umbrella term covering 13 Mondo subtypes) with 10 GWAS associations across 11 studies. A subtype of connective tissue disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 13 Mondo subtypes
• GWAS associations: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	connective tissue neoplasm
Mondo ID	MONDO:0021581
MeSH	D009372
SNOMED CT	126598008
UMLS	C0027656
MedGen	45035
Anatomy (UBERON)	UBERON:0002384
Is cancer (heuristic)	yes

Also known as: connective tissue neoplasm · connective tissue neoplasm (disease) · connective tissue neoplasms · connective tissue tumor · connective tissue tumour · neoplasm of connective tissue · neoplasm of connective tissues · neoplasm, connective tissue · tumor of connective tissue · tumour of connective tissue

Data availability: 10 GWAS associations (11 studies).

Disease family

This is a subtype of connective tissue 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 › connective tissue disorder › connective tissue neoplasm

Related subtypes (15): benign connective and soft tissue neoplasm, ochronosis disorder, enthesopathy, synovitis, collagenopathy, fasciitis, interstitial keratitis, periostitis, rheumatic disorder, panniculitis, ainhum, overlapping connective tissue disease, interstitial cystitis, hereditary disorder of connective tissue, disease of the tendon

Subtypes (13): cartilage cancer, chondroma, tenosynovial giant cell tumor, dartoic leiomyoma, cholangiolocellular carcinoma, scirrhous adenocarcinoma, angiomyxoma, fibroblastic neoplasm, chondrosarcoma, bone neoplasm, tumor of adipose tissue, lipofibromatosis-like neural tumor, solitary fibrous tumor/hemangiopericytoma

Genetics & variants

GWAS landscape

10 GWAS associations across 11 studies. Top hits map to 7 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs577319126	3e-12	INTS10 - LPL	A	3.56
rs368480426	5e-12	USP20	G	3.3
rs182867289	2e-11	LRP1B	T	3.04
rs140211887	2e-11	LINC01194	G	2.44
rs549928751	3e-11	LRP1B	C	2.97
rs117510937	3e-11	C10orf143	G	2.46
rs116067048	4e-11	THSD7B	C	2.03
rs147037308	4e-09	ANXA11	?
rs185617584	2e-07	KIF13A	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477194	Verma A	2024	1,872	447,066	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477195	Verma A	2024	1,337	448,603	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477193	Verma A	2024	507	120,862	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479792	Verma A	2024	507	120,862	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651977	Liu TY	2025	437	236,808	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90435591	Zhou W	2018	424	408,537	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90479791	Verma A	2024	368	121,292	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481493	Verma A	2024	368	121,292	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90041825	Jiang L	2021	319	456,029	A generalized linear mixed model association tool for biobank-scale data.
GCST90435593	Zhou W	2018	312	408,537	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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)	1
low_freq (0.01-0.05)	0
rare (<0.01)	7
unknown	1

Functional consequences

Consequence	Count
intron_variant	6
intergenic_variant	2
synonymous_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs577319126	8	19862335	A>G	0.001	intergenic_variant	INTS10 - LPL	3e-12	Tier 4: intronic/intergenic
rs368480426	9	129868064	G>A,C	0	synonymous_variant	USP20	5e-12	Tier 4: intronic/intergenic
rs182867289	2	141149632	T>C	0	intron_variant	LRP1B	2e-11	Tier 4: intronic/intergenic
rs140211887	5	12827617	G>A	0.002	intron_variant	LINC01194	2e-11	Tier 4: intronic/intergenic
rs549928751	2	141231758	C>T	0	intron_variant	LRP1B	3e-11	Tier 4: intronic/intergenic
rs117510937	10	130043853	G>A	0	intergenic_variant	C10orf143	3e-11	Tier 4: intronic/intergenic
rs116067048	2	137141072	C>A,G	0.002	intron_variant	THSD7B	4e-11	Tier 4: intronic/intergenic
rs147037308	10	80195784	T>A,C	0.05	intron_variant	ANXA11	4e-09	Tier 4: intronic/intergenic
rs185617584	6	17793536	T>C,G		intron_variant	KIF13A	2e-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: 0.