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GENE - TERM ANNOTATION REPORT

RGD ID: 736411
Species: Homo sapiens
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 IAGP 7240710OMIM  
ACTN1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
ACTN1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:28492532
ACTN1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:28492532
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:31064749 PMID:31237726 PMID:32581362
ACTN1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:31237726
ACTN1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:28492532 PMID:31237726
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 PMID:30351444 PMID:31064749 PMID:32581362
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:28492532 PMID:31064749 PMID:34355501
ACTN1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:31064749
ACTN1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:26453073 PMID:28492532
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25741868 PMID:34355501
ACTN1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15 
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:25949529 PMID:28562514
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115 PMID:25741868 PMID:26879394 PMID:30351444 PMID:31365757 PMID:32478077
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ACTN1-related conditionPMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ACTN1-related conditionPMID:25741868 PMID:25949529 PMID:28492532
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115 PMID:25741868 PMID:25949529 PMID:26453073 PMID:28492532 PMID:30351444 PMID:31064749 PMID:31237726
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115 PMID:25361813 PMID:25741868 PMID:28492532 PMID:30351444 PMID:31365757
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115 PMID:24069336 PMID:25361813 PMID:25741868 PMID:28492532 PMID:31064749
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115 PMID:25361813 PMID:28492532 PMID:28562514 PMID:32581362
ACTN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Platelet-type bleeding disorder 15PMID:23434115 PMID:25741868 PMID:31064749
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