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GENE - TERM ANNOTATION REPORT

RGD ID: 1317652
Species: Homo sapiens
RGD Object: Gene
Symbol: COL4A2
Name: collagen type IV alpha 2 chain
Acc ID: HP:0002132
Term: Porencephalic cyst
Definition: A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:9279052
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 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

PMID:25741868 PMID:26467025 PMID:28492532
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

PMID:28492532
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

PMID:28492532
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Porencephalic cyst

 
COL4A2 IAGP 8699517HPO OMIM:614483
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