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GENE - TERM ANNOTATION REPORT

RGD ID: 1344175
Species: Homo sapiens
RGD Object: Gene
Symbol: LAMB3
Name: laminin subunit beta 3
Acc ID: DOID:0060737
Term: junctional epidermolysis bullosa Herlitz type
Definition: A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8012393 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8586427 "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)
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:21801158 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:12813757 PMID:15725250 PMID:16473856 PMID:25741868 PMID:28087116 PMID:28492532 PMID:29334134 PMID:8824879
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:16971478 PMID:21801158 PMID:28492532 PMID:9242513
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:25741868 PMID:28492532 PMID:8824879 PMID:9160387
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:22931927 PMID:25741868 PMID:28492532 PMID:9690563
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:12813757 PMID:16473856 PMID:21801158 PMID:28492532 PMID:8824879 PMID:9160387
LAMB3 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: Junctional epidermolysis bullosa gravis of HerlitzPMID:25741868
LAMB3 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) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:25741868 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosaPMID:11023379 PMID:16473856 PMID:25741868 PMID:27480391 PMID:28492532
LAMB3 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)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:28492532
LAMB3 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) 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) 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) 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) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz 
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11810295 PMID:16473856 PMID:25741868
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:25741868 PMID:27480391 PMID:28492532
LAMB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:25741868 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:25525159 PMID:9242513
LAMB3 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:28492532 PMID:32484238
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32484238 PMID:34231856
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:15538630 PMID:16473856 PMID:22931927 PMID:25741868 PMID:25950805 PMID:28492532 PMID:28830826
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:25525159 PMID:28492532 PMID:7550237
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:23278291 PMID:25741868 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:12813757 PMID:16473856 PMID:24617447 PMID:25741868 PMID:28492532 PMID:28830826 PMID:9242513
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:25741868 PMID:27375110 PMID:28492532 PMID:8824879
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:27480391 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11810295 PMID:15538630 PMID:16403119
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:25708563 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:16473856 PMID:28492532
LAMB3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:25741868 PMID:25950805 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16199547 PMID:16473856 PMID:25708563 PMID:25741868 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:25708563
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:11298117 PMID:16473856 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:29900604 PMID:7550237
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:28392661
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:15373767 PMID:15538630 PMID:16473856 PMID:21801158 PMID:25741868 PMID:28492532 PMID:7550237 PMID:8824879
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:15373767 PMID:16473856 PMID:25741868 PMID:28492532
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:28492532 PMID:29900604
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosaPMID:10577906 PMID:11023379 PMID:11298117 PMID:11451332 PMID:11689492 PMID:15311214 PMID:15538630 PMID:15663509 PMID:16473856 PMID:17476356 PMID:20301304 PMID:21801158 PMID:25708563 PMID:25741868 PMID:27062385 PMID:28492532 PMID:28830826 PMID:7698759 PMID:8824879 PMID:8983017 PMID:9205497 PMID:9242513
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosaPMID:11023379 PMID:16439963 PMID:16473856 PMID:20301304 PMID:25741868 PMID:27375110 PMID:28492532 PMID:30544381 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9767254
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:28492532 PMID:9457915
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:15538630 PMID:16473856 PMID:25525159 PMID:28492532 PMID:9457915 PMID:9856852
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:16473856 PMID:28492532 PMID:8362910 PMID:8541876 PMID:8755931 PMID:9579554
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:11689492 PMID:15373767 PMID:16473856 PMID:24947307 PMID:28492532
LAMB3 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:17476356
LAMB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of HerlitzPMID:11023379 PMID:11296269 PMID:12813757 PMID:16473856 PMID:20301304 PMID:27375110 PMID:28492532 PMID:8824879 PMID:8983017 PMID:9326326
LAMB3 ISSLamb3 (Mus musculus)13592920MouseDOOMIM:226700 
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