Aortic atherosclerosis

disease

On this page

Also known as aorta atherosclerosisaortic atherosclerosis (disease)atherosclerosis of aorta

Summary

Aortic atherosclerosis (MONDO:0000980) is a disease with 2 GWAS associations across 4 studies. A subtype of atherosclerosis — 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	aortic atherosclerosis
Mondo ID	MONDO:0000980
DOID	DOID:10230
ICD-10-CM	I70.0
ICD-11	1600740300
SNOMED CT	81817003
UMLS	C0155733
MedGen	510061
Anatomy (UBERON)	UBERON:0000947
Is cancer (heuristic)	no

Also known as: aorta atherosclerosis · aortic atherosclerosis · aortic atherosclerosis (disease) · atherosclerosis of aorta

Data availability: 2 GWAS associations (4 studies) · 1 HPO phenotype.

Disease family

This is a subtype of atherosclerosis. 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 › arteriosclerosis disorder › atherosclerosis › aortic atherosclerosis

Subtypes (1): renal artery atheroma

Genetics & variants

GWAS landscape

2 GWAS associations across 4 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
rs529084429	4e-12	NYAP2 - MIR5702	T	2.93
rs564451966	3e-11	DAAM2	A	2.09

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478012	Verma A	2024	1,985	439,793	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480199	Verma A	2024	333	119,879	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482026	Verma A	2024	333	119,879	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436150	Zhou W	2018	282	400,595	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	2

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs529084429	2	226655120	T>C	0	intron_variant	NYAP2 - MIR5702	4e-12	Tier 4: intronic/intergenic
rs564451966	6	39811936	A>C,G	0.001	intron_variant	DAAM2	3e-11	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.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.