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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:4959
Term: epidermolysis bullosa dystrophica
Definition: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Definition Source(s): MESH:D016108, 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:226600

 
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:226600

PMID:10469344, PMID:7577595
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:226600

PMID:11843659
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:10504458, PMID:12653705, PMID:15816848, PMID:15888141, PMID:16484981, PMID:17916216, PMID:19439919, PMID:25155989, PMID:27544590, PMID:28492532
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:10504458, PMID:12813757, PMID:16971478, PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:10504458, PMID:15550148, PMID:28853495
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:10504458, PMID:16500083
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:10504458, PMID:20357813, PMID:21471992, PMID:24032424, PMID:24947307, PMID:25741868, PMID:26102279, PMID:26763448, PMID:7833933, PMID:9242516, PMID:9326325
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:10504458, PMID:24279917, PMID:29130490
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:16439963, PMID:19681861, PMID:27899325
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:16971478, PMID:28492532
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:18565177
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:20585476, PMID:21448560
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:24831336
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Dystrophic epidermolysis bullosa

PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR

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, AD, Epidermolysis bullosa dystrophica, AR

PMID:16971478, PMID:21448560, PMID:24033266
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR

PMID:24033266
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Hallopeau-Siemens Disease

PMID:25741868, PMID:9668111
susceptibilityISORGD:13228691600946RGDDNA:insertion-deletion

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