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GENE - TERM ANNOTATION REPORT

RGD ID: 735790
Species: Mus musculus
RGD Object: Gene
Symbol: Actc1
Name: actin, alpha, cardiac muscle 1
Acc ID: DOID:0110110
Term: atrial heart septal defect 5
Definition: An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17947298 "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)
Actc1 ISOACTC1 (Homo sapiens)7240710OMIM  
Actc1 ISOACTC1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Actc1 ISOACTC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Atrial septal defect 5PMID:10494087 PMID:10966831 PMID:11052860 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17576681 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:21839045 PMID:22464770 PMID:2255271 PMID:22555271 PMID:22563033 PMID:23054336 PMID:24033266 PMID:24461919 PMID:24736382 PMID:25163546 PMID:25239116 PMID:25611685 PMID:25741868 PMID:27532257 PMID:27561770 PMID:28138913 PMID:28416588 PMID:28492532 PMID:28790153 PMID:28798025 PMID:29764897 PMID:30371277 PMID:30471092 PMID:30847666 PMID:31246743 PMID:31430208 PMID:31434612 PMID:32880476 PMID:33500567 PMID:34088380 PMID:34495297 PMID:34935411 PMID:35026164 PMID:676951 PMID:9536098
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