Cerebral artery occlusion

Summary

Cerebral artery occlusion (MONDO:0000944) is a disease with 3 GWAS associations across 8 studies and 2 clinical trials. A subtype of arterial occlusion — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 3
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cerebral artery occlusion
Mondo ID	MONDO:0000944
DOID	DOID:10127
SNOMED CT	20059004
UMLS	C0028790
MedGen	507994
Anatomy (UBERON)	UBERON:0004449
Is cancer (heuristic)	no

Data availability: 3 GWAS associations (8 studies).

Disease family

This is a subtype of arterial occlusion. 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 › cardiovascular disorder › vascular disorder › arterial disorder › arterial occlusion › cerebral artery occlusion

Related subtypes (3): vertebral artery occlusion, central retinal artery occlusion, basilar artery occlusion

Genetics & variants

GWAS landscape

3 GWAS associations across 8 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
rs143594550	5e-18	ADGRE3	?
rs376477692	4e-14	OR7A8P - OR7A2P	?
rs11878065	9e-09	ADCYAP1 - LINC01904	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477991	Verma A	2024	20,766	420,219	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477990	Verma A	2024	7,521	111,496	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480802	Verma A	2024	7,521	111,496	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651190	Liu TY	2025	7,384	215,981	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90651213	Liu TY	2025	6,598	215,981	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477989	Verma A	2024	2,274	56,588	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436142	Zhou W	2018	1,501	399,017	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651446	Liu TY	2025	1,000	215,981	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)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	2

Functional consequences

Consequence	Count
intron_variant	1
non_coding_transcript_exon_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs143594550	19	14628237	T>C		intron_variant	ADGRE3	5e-18	Tier 4: intronic/intergenic
rs376477692	19	14863781	C>T		non_coding_transcript_exon_variant	OR7A8P - OR7A2P	4e-14	Tier 4: intronic/intergenic
rs11878065	18	913490	A>C	0.05	intergenic_variant	ADCYAP1 - LINC01904	9e-09	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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02880579	Not specified	COMPLETED	Neurothrombectomy France
NCT05342714	Not specified	UNKNOWN	Remote Ischemic Conditioning for Chronic Cerebral Artery Occlusion