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GENE - TERM ANNOTATION REPORT

RGD ID: 1320894
Species: Homo sapiens
RGD Object: Gene
Symbol: LAMA4
Name: laminin subunit alpha 4
Acc ID: DOID:0080326
Term: familial hypertrophic cardiomyopathy
Definition: A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes "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)
LAMA4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyPMID:23861362 PMID:25741868 PMID:28492532 PMID:30086531 PMID:31983221
LAMA4 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyPMID:28492532
LAMA4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyPMID:24033266 PMID:25741868 PMID:28492532 PMID:30847666 PMID:31333075 PMID:31568572
LAMA4 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyPMID:23861362 PMID:28492532
LAMA4 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 
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