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GENE - TERM ANNOTATION REPORT

RGD ID: 1311417
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col7a1
Name: collagen type VII alpha 1 chain
Acc ID: DOID:0080224
Term: autosomal dominant dystrophic epidermolysis bullosa
Definition: An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13228697240710OMIM  
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:10084325, PMID:11874498, PMID:2653224, PMID:9347800, PMID:9856844
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:10469344, PMID:7577595
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:16557343
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:1680286, PMID:8170945
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:16965329
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:8288900, PMID:9668111
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:9347800
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131750

PMID:9892921
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant

PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19681861, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:8755915
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant

PMID:25741868, PMID:9668111
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.