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GENE - TERM ANNOTATION REPORT

RGD ID: 70907
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Actn1
Name: actinin, alpha 1
Acc ID: DOID:0111053
Term: platelet-type bleeding disorder 15
Definition: A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23434115 "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)
Actn1 ISOACTN1 (Homo sapiens)7240710OMIM  
Actn1 ISOACTN1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Actn1 ISOACTN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:17576681 PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:25949529 PMID:26453073 PMID:26879394 PMID:28492532 PMID:28562514 PMID:30351444 PMID:31064749 PMID:31237726 PMID:31365757 PMID:32478077 PMID:32581362 PMID:34355501 PMID:9536098
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