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GENE - TERM ANNOTATION REPORT

RGD ID: 621053
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lamc2
Name: laminin subunit gamma 2
Acc ID: DOID:0060738
Term: junctional epidermolysis bullosa non-Herlitz type
Definition: A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10792571 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/11810295 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550320 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7706760 "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)
Lamc2 ISOLAMC2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:24550734
Lamc2 ISOLAMC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz typePMID:11564184 PMID:25741868 PMID:27375110 PMID:28492532
Lamc2 ISSLamc2 (Mus musculus)13592920MouseDOOMIM:226650 
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