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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:0060642
Term: recessive dystrophic epidermolysis bullosa
Definition: An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa, https://www.ncbi.nlm.nih.gov/pubmed/3307723, https://www.ncbi.nlm.nih.gov/pubmed/8513326
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:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive

PMID:11843659
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive

PMID:12787275, PMID:25741868, PMID:28492532
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive

PMID:25741868, PMID:8037207
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

 
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:10469344, PMID:7577595
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:10504458, PMID:12485454, PMID:16271705, PMID:25741868, PMID:28492532, PMID:8755915
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

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

PMID:10504458, PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:10583163, PMID:9215684
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:10944088, PMID:16971478, PMID:17495952, PMID:25741868, PMID:8900535
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:11000732, PMID:16971478, PMID:18951764, PMID:19643583, PMID:22266148, PMID:25741868, PMID:28492532, PMID:9326325
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:11167698, PMID:28492532
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

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: Recessive dystrophic epidermolysis bullosa

PMID:11843659, PMID:7883979
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:17501948, PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:17916216, PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:18030675, PMID:9326325
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:18414213, PMID:19026465, PMID:20507384, PMID:26064063, PMID:3771648
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:18558993, PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:20920254, PMID:25741868, PMID:28492532, PMID:9326325
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:24033266
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:25741868
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:25741868, PMID:28492532
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:25741868, PMID:9668111
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:7883979
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:8088783
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:8513326
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:8644729
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa

PMID:9740253
 ISSRGD:132287013592920MouseDOOMIM:226600

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