eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| intracranial arteriovenous malformation | ||||
| Disease ID | 1694 |
|---|---|
| Disease | intracranial arteriovenous malformation |
| Definition | Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect. |
| Synonym | arteriovenous brain malformation arteriovenous brain malformations arteriovenous malformation of brain arteriovenous malformation, intracranial arteriovenous malformations, intracranial avm (arteriovenous malformation) intracranial congen intracranial arteriovenous malformations congenital intracranial arteriovenous malformations intracranial arteriovenous malformations intracranial arteriovenous malformations [disease/finding] intracranial arteriovenous malformations congen intracranial arteriovenous malformations, congenital intracranial avm malformation, intracranial arteriovenous malformations, intracranial arteriovenous |
| Orphanet | |
| UMLS | C0007772 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1694 |
|---|---|
| Disease | intracranial arteriovenous malformation |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1694 |
|---|---|
| Disease | intracranial arteriovenous malformation |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs522616 | 20822909 | 4314 | MMP3 | umls:C0007772 | GAD | [The rs522616 polymorphism in the matrix metalloproteinase-3 (MMP-3) gene is associated with sporadic brain arteriovenous malformation in a Chinese population.] | 0.002367032 | 2010 | MMP3 | 11 | 102844317 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1694 |
|---|---|
| Disease | intracranial arteriovenous malformation |
| Case | (Waiting for update.) |