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GENE - TERM ANNOTATION REPORT

RGD ID: 1308085
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col4a2
Name: collagen type IV alpha 2 chain
Acc ID: DOID:0090125
Term: brain small vessel disease 1
Definition: A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease "DO" "DO", https://ghr.nlm.nih.gov/condition/familial-porencephaly "DO" "DO", https://www.omim.org/entry/175780 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Col4a2 ISOCOL4A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhagePMID:25741868 PMID:26467025 PMID:28492532
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