Epithelioid cell uveal melanoma

Summary

Epithelioid cell uveal melanoma (MONDO:0006200) is a cancer with 8 GWAS associations across 2 studies. A subtype of epithelioid cell melanoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	epithelioid cell uveal melanoma
Mondo ID	MONDO:0006200
EFO	EFO:1000244
DOID	DOID:7040
NCIT	C35780
UMLS	C1333422
MedGen	234223
GARD	0024325
Anatomy (UBERON)	UBERON:0001768
Is cancer (heuristic)	yes

Also known as: epithelioid cell melanoma of uvea · epithelioid cell uveal melanoma · uvea epithelioid cell melanoma · uveal epithelioid cell melanoma

Data availability: 8 GWAS associations (2 studies).

Disease family

This is a subtype of epithelioid cell melanoma. 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › melanocytic neoplasm › melanoma › epithelioid cell melanoma › epithelioid cell uveal melanoma

Subtypes (2): choroid epithelioid cell melanoma, ciliary body epithelioid cell melanoma

Genetics & variants

GWAS landscape

8 GWAS associations across 2 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs3759710	9e-10	TDP1	C	2.32
rs10985729	3e-07	OR1L8 - OR1H1P	G	2.11
rs73167445	2e-06	XPO4	T	1.86
rs13105686	2e-06	GAPDHP56 - RNU6-224P	C	1.63
rs59693671	4e-06	PSIP1P1 - RNU6-559P	G	3.15
rs1518400	4e-06	VRK2	T	1.53
rs402848	7e-06	STARD4-AS1	A	1.8
rs28670044	8e-06	DGKI	T	1.78

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST009075	Thomsen H	2019	285	0	Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
GCST009076	Thomsen H	2019	285	5,199	Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.

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	1
Tier 4: intronic/intergenic	7

MAF distribution

Bucket	Variants
common (>=0.05)	7
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	6
regulatory_region_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs3759710	14	89955214	G>C	0.05	regulatory_region_variant	TDP1	9e-10	Tier 3: regulatory
rs10985729	9	122601929	A>G	0.19	intron_variant	OR1L8 - OR1H1P	3e-07	Tier 4: intronic/intergenic
rs73167445	13	20822372	C>T	0.07	intron_variant	XPO4	2e-06	Tier 4: intronic/intergenic
rs13105686	4	130547531	T>C	0.17	intergenic_variant	GAPDHP56 - RNU6-224P	2e-06	Tier 4: intronic/intergenic
rs59693671	9	15077541	GT>G,GTT	0.04	intron_variant	PSIP1P1 - RNU6-559P	4e-06	Tier 4: intronic/intergenic
rs1518400	2	58008251	C>A,T	0.23	intron_variant	VRK2	4e-06	Tier 4: intronic/intergenic
rs402848	5	111546481	A>C,G	0.35	intron_variant	STARD4-AS1	7e-06	Tier 4: intronic/intergenic
rs28670044	7	137447703	T>A,G	0.47	intron_variant	DGKI	8e-06	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.