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GENE - TERM ANNOTATION REPORT

RGD ID: 737318
Species: Homo sapiens
RGD Object: Gene
Symbol: ACTG2
Name: actin gamma 2, smooth muscle
Acc ID: HP:0000021
Term: Megacystis
Definition: Dilatation of the bladder postnatally.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
ACTG2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Megacystis

PMID:24337657 PMID:24676022 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26813947 PMID:27481187 PMID:31769566
ACTG2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Megacystis

PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:28422808 PMID:29781137 PMID:31769566 PMID:32814715 PMID:33294969
ACTG2 IAGP 8699517HPO MIM:155310
ACTG2 IAGP 8699517HPO MIM:619431
ACTG2 IAGP 8699517HPO ORPHA:2241
ACTG2 IAGP 8699517HPO ORPHA:2604
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