Occlusion precerebral artery
diseaseOn this page
Summary
Occlusion precerebral artery (MONDO:0003718) is a disease with 35 GWAS associations across 17 studies. A subtype of cerebrovascular disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 35
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | occlusion precerebral artery |
| Mondo ID | MONDO:0003718 |
| EFO | EFO:0009677 |
| DOID | DOID:5976 |
| SNOMED CT | 28790007 |
| UMLS | C0265090 |
| MedGen | 539069 |
| Is cancer (heuristic) | no |
Data availability: 35 GWAS associations (17 studies).
Disease family
This is a subtype of cerebrovascular 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 › nervous system disorder › central nervous system disorder › brain disorder › cerebrovascular disorder › occlusion precerebral artery
Related subtypes (23): cerebral arteritis, intracranial thrombosis, vascular dementia, stroke disorder, internal carotid artery stenosis, carotid artery disorder, brain ischemia, brain infarction, cerebral amyloid angiopathy, vascular brain injury, basal ganglia cerebrovascular disorder, intracranial arterial disease, intracranial vasospasm, subclavian steal syndrome, pseudotumor cerebri, cerebral sinovenous thrombosis, HTRA1-related autosomal dominant cerebral small vessel disease, familial porencephaly, microangiopathy and leukoencephalopathy, pontine, autosomal dominant, cathepsin a-related arteriopathy-strokes-leukoencephalopathy, precerebral artery stenosis, cerebral artery stenosis, APP-related brain and vascular amyloidosis
Subtypes (3): vertebral artery occlusion, basilar artery occlusion, carotid artery occlusion
Genetics & variants
GWAS landscape
35 GWAS associations across 17 studies. Top hits map to 12 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr7:19052733 | 9e-69 | G | 0.22 | |
| rs2107595 | 2e-57 | HDAC9 - TWIST1 | G | 0.19 |
| rs10455872 | 4e-56 | LPA | A | 0.26 |
| rs1537373 | 4e-51 | CDKN2B-AS1 | T | 0.13 |
| rs13225723 | 1e-34 | LINC02577 | G | 0.13 |
| chr16:75403289 | 7e-32 | C | 0.11 | |
| rs59155720 | 3e-28 | TMEM170A | A | 0.1 |
| chr11:102718695 | 4e-25 | T | 0.12 | |
| chr4:148400819 | 2e-24 | C | 0.13 | |
| rs7500448 | 1e-23 | CDH13 | A | 0.11 |
| rs646776 | 1e-22 | CELSR2 - PSRC1 | C | 0.1 |
| rs12740374 | 1e-21 | CELSR2 | G | 0.11 |
| rs527725 | 9e-19 | IPO9-AS1, NAV1 | A | 0.08 |
| rs1892971 | 9e-19 | RNU7-159P - MMP13 | G | 0.1 |
| rs73855814 | 2e-18 | PRMT5P1 - EDNRA | G | 0.11 |
| rs11670056 | 4e-18 | ELL | C | 0.13 |
| chr18:20003625 | 6e-18 | C | 0.08 | |
| chr17:12187339 | 2e-13 | T | 0.08 | |
| rs527609274 | 3e-13 | VIT | G | 2.78 |
| chr19:11191677 | 6e-13 | T | 0.1 | |
| rs4800402 | 1e-12 | ATP7BP1 - RPS4XP18 | A | 0.07 |
| rs138294113 | 2e-12 | SMARCA4 - LDLR | C | 0.1 |
| chr16:73090039 | 4e-12 | G | 0.07 | |
| rs3827066 | 7e-12 | ZNF335 | C | 0.08 |
| chr5:108200114 | 2e-11 | C | 0.11 | |
| chr7:19031935 | 2e-11 | C | 0.31 | |
| rs7412 | 2e-11 | APOE | C | 0.12 |
| rs1065853 | 3e-11 | APOE - APOC1 | G | 0.11 |
| rs78012438 | 1e-06 | SLC22A5 - CARINH | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475986 | Verma A | 2024 | 26,524 | 402,475 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90652231 | Liu TY | 2025 | 4,055 | 215,981 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90477984 | Verma A | 2024 | 3,388 | 113,694 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480193 | Verma A | 2024 | 3,388 | 113,694 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475987 | Verma A | 2024 | 2,276 | 446,000 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90043999 | Jiang L | 2021 | 1,830 | 454,518 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90477983 | Verma A | 2024 | 1,614 | 56,314 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90080038 | Backman JD | 2021 | 1,329 | 386,456 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084024 | Backman JD | 2021 | 1,329 | 386,456 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90436139 | Zhou W | 2018 | 1,185 | 399,017 | 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 | 1 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 3 |
| Tier 4: intronic/intergenic | 24 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 27 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 10 |
| intron_variant | 9 |
| intergenic_variant | 4 |
| regulatory_region_variant | 3 |
| 3_prime_UTR_variant | 1 |
| missense_variant | 1 |
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr7:19052733 | 0.16 | 9e-69 | Tier 4: intronic/intergenic | |||||
| rs2107595 | 7 | 19009765 | G>A,C,T | 0.18 | regulatory_region_variant | HDAC9 - TWIST1 | 2e-57 | Tier 3: regulatory |
| rs10455872 | 6 | 160589086 | A>G | 0.069 | intron_variant | LPA | 4e-56 | Tier 4: intronic/intergenic |
| rs1537373 | 9 | 22103342 | T>A,G | 0.499 | intron_variant | CDKN2B-AS1 | 4e-51 | Tier 4: intronic/intergenic |
| rs13225723 | 7 | 106776021 | G>A,C | 0.204 | intron_variant | LINC02577 | 1e-34 | Tier 4: intronic/intergenic |
| chr16:75403289 | 0.426 | 7e-32 | Tier 4: intronic/intergenic | |||||
| rs59155720 | 16 | 75449908 | A>C,G,T | 0.455 | intron_variant | TMEM170A | 3e-28 | Tier 4: intronic/intergenic |
| chr11:102718695 | 0.183 | 4e-25 | Tier 4: intronic/intergenic | |||||
| chr4:148400819 | 0.142 | 2e-24 | Tier 4: intronic/intergenic | |||||
| rs7500448 | 16 | 83012185 | A>G | 0.248 | intron_variant | CDH13 | 1e-23 | Tier 4: intronic/intergenic |
| rs646776 | 1 | 109275908 | C>A,G,T | 0.22 | regulatory_region_variant | CELSR2 - PSRC1 | 1e-22 | Tier 3: regulatory |
| rs12740374 | 1 | 109274968 | G>T | 0.225 | 3_prime_UTR_variant | CELSR2 | 1e-21 | Tier 2: splice/UTR |
| rs527725 | 1 | 201783301 | A>C,T | 0.391 | intron_variant | IPO9-AS1, NAV1 | 9e-19 | Tier 4: intronic/intergenic |
| rs1892971 | 11 | 102924877 | G>A | 0.189 | regulatory_region_variant | RNU7-159P - MMP13 | 9e-19 | Tier 3: regulatory |
| rs73855814 | 4 | 147476599 | G>T | 0.147 | intergenic_variant | PRMT5P1 - EDNRA | 2e-18 | Tier 4: intronic/intergenic |
| rs11670056 | 19 | 18479133 | C>G,T | 0.083 | intron_variant | ELL | 4e-18 | Tier 4: intronic/intergenic |
| chr18:20003625 | 0.418 | 6e-18 | Tier 4: intronic/intergenic | |||||
| chr17:12187339 | 0.243 | 2e-13 | Tier 4: intronic/intergenic | |||||
| rs527609274 | 2 | 36771243 | G>A | 0 | intron_variant | VIT | 3e-13 | Tier 4: intronic/intergenic |
| chr19:11191677 | 0.121 | 6e-13 | Tier 4: intronic/intergenic | |||||
| rs4800402 | 18 | 22423703 | A>G,T | 0.429 | intergenic_variant | ATP7BP1 - RPS4XP18 | 1e-12 | Tier 4: intronic/intergenic |
| rs138294113 | 19 | 11081053 | C>T | 0.12 | intergenic_variant | SMARCA4 - LDLR | 2e-12 | Tier 4: intronic/intergenic |
| chr16:73090039 | 0.301 | 4e-12 | Tier 4: intronic/intergenic | |||||
| rs3827066 | 20 | 45957384 | C>T | 0.155 | intron_variant | ZNF335 | 7e-12 | Tier 4: intronic/intergenic |
| chr5:108200114 | 0.082 | 2e-11 | Tier 4: intronic/intergenic | |||||
| chr7:19031935 | 0.098 | 2e-11 | Tier 4: intronic/intergenic | |||||
| rs7412 | 19 | 44908822 | C>T | 0.082 | missense_variant | APOE | 2e-11 | Tier 1: coding |
| rs1065853 | 19 | 44909976 | G>A,C,T | 0.081 | non_coding_transcript_exon_variant | APOE - APOC1 | 3e-11 | Tier 4: intronic/intergenic |
| rs78012438 | 5 | 132396287 | G>A | intergenic_variant | SLC22A5 - CARINH | 1e-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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.