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GENE - TERM ANNOTATION REPORT

RGD ID: 38637361
Species: Homo sapiens
RGD Object: Gene
Symbol: CLDN14-AS1
Name: CLDN14 antisense RNA 1
Acc ID: HP:0030713
Term: Vein of Galen aneurysmal malformation
Definition: Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.
Definition Source(s): https://orcid.org/0000-0002-0003-6754, PMID:32706613, PMID:33168212
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)
CLDN14-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vein of Galen aneurysmal malformation

PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532
CLDN14-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vein of Galen aneurysmal malformation

PMID:30578106
CLDN14-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vein of Galen aneurysmal malformation

PMID:30578106
CLDN14-AS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vein of Galen aneurysmal malformation

PMID:25741868
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