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GENE - TERM ANNOTATION REPORT

RGD ID: 1322870
Species: Mus musculus
RGD Object: Gene
Symbol: Col7a1
Name: collagen, type VII, alpha 1
Acc ID: DOID:0111345
Term: transient bullous demolysis of the newborn
Definition: An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16225626, https://www.ncbi.nlm.nih.gov/pubmed/9406826
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 null

PMID:8345225, PMID:9406826
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131705

PMID:16225626
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131705

PMID:17434045, PMID:9856844
 ISORGD:13228698554872ClinVarClinVar Annotator: match by OMIM:131705

PMID:9856844
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM

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: Transient bullous dermolysis of the newborn

PMID:10504458, PMID:16971478, PMID:23786535, PMID:24317394, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.