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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:9001453
Term: Pretibial Epidermolysis Bullosa
Definition: null
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:131850

PMID:8541842
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL

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, pretibial, autosomal recessive

PMID:10583163, PMID:9215684
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive

PMID:12485454
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.