Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent of anchoring fibrils (AFs) in skin. 31167965 2019
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) patients have mutations in the COL7A1 gene and thus lack functional type VII collagen (C7) protein; they have marked skin fragility and blistering. 31578311 2019
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens-raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease. 29272047 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE In parallel, sequencing of epidermolysis bullosa (EB) genes identified compound heterozygous COL7A1 missense c.410G>A (p.Arg137Gln) and splicing c.3674C>T (p.Ala1225_Gln1241del) mutations, previously unrecognized in dystrophic epidermolysis bullosa (DEB). 29182795 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE Whole exome sequencing of 18 patients with DEB from 17 unrelated Indian families revealed 20 distinct sequence variants in the COL7A1 gene including 2 widely prevalent mutations. 29963685 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). 28973459 2017
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 Biomarker disease BEFREE COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. 27899325 2017
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 CausalMutation disease CLINVAR Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. 27899325 2017
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease CLINVAR Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. 29130490 2017
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 Biomarker disease BEFREE Naturally occurring exon skipping in COL7A1, translating collagen VII, suggests that skipping of exons containing disease-causing mutations may be feasible for the treatment of DEB. 27157667 2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE Our results demonstrate that RTM28, which covers >60% of all mutations reported in DEB and is thus the longest RTM described so far for the repair of COL7A1, represents a promising candidate for therapeutic applications. 27434145 2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 CausalMutation disease CLINVAR Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB. 26763448 2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 CausalMutation disease CLINVAR Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. 27544590 2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 CausalMutation disease CLINVAR Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. 24947307 2015
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 CausalMutation disease CLINVAR Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family. 26102279 2015
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. 25113066 2015
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE These data contribute to the expanding database of COL7A1 mutations in DEB and should be useful for genetic counseling and prenatal diagnosis in affected families. 25800346 2015
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. 24170138 2014
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 CausalMutation disease CLINVAR Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. 25155989 2014
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP with either autosomal dominant or recessive inheritance. 22515571 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 Biomarker disease GENOMICS_ENGLAND Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. 23616197 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease CLINVAR Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. 24279917 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 CausalMutation disease CLINVAR Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. 24032424 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE This is a novel mutation of COL7A1 associated with DEB in a Korean patient, adding to the range of COL7A1 mutations related to DEB. 23546949 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
0.900 GeneticVariation disease BEFREE Dystrophic Epidermolysis Bullosa (DEB) is a rare bullous genodermatosis caused by mutations in COL7A1, which encodes collagen type VII, the main component of anchoring fibrilis. 22266148 2012