Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa. 28800953

2018

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects in type-VII collagen (C7), a protein encoded by the COL7A1 gene and essential for anchoring fibril formation at the dermal-epidermal junction. 28027893

2017

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation 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
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. 28549954

2017

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE With recessive dystrophic epidermolysis bullosa keratinocytes (RDEBK-TA4), the DSP exhibited high transfection efficacy with both Gaussia luciferase marker DNA and the full length COL7A1 transcript encoding the therapeutic type VII collagen protein (C7). 26369723

2017

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Autologous keratinocytes isolated from biopsy samples collected from 4 patients with RDEB were transduced with good manufacturing practice-grade retrovirus carrying full-length human COL7A1 and assembled into epidermal sheet grafts. 27802546

2016

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB. 26763448

2016

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Recent studies have shown that COL7A1 mutations in cells of patients with recessive dystrophic epidermolysis bullosa can be corrected by homology-directed DNA repair. 27012560

2016

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Recessive dystrophic epidermolysis bullosa (RDEB) is a recessively inherited blistering disorder due to mutations in the collagen VII gene, COL7A1. 26083672

2016

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by mutations in the COL7A1 gene that result in absent or dysfunctional type VII collagen protein production. 26073463

2016

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Recessive dystrophic epidermolysis bullosa (R-DEB) is caused by mutations in the COL7A1 gene. 25308504

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Identical COL7A1 mutations often result in inter- and intra-familial disease variability, suggesting that additional modifiers contribute to RDEB course. 24599399

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Recessive dystrophic epidermolysis bullosa (RDEB) is a severe genetic skin blistering disorder caused by mutations in the gene COL7A1 encoding type VII collagen. 24899116

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE To provide proof of principle on the applicability of iPSCs for the treatment of RDEB, we developed iPSCs from type VII collagen (Col7a1) mutant mice that exhibited skin fragility and blistering resembling human RDEB. 25429058

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. 25429056

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Recessive dystrophic epidermolysis bullosa (RDEB) is caused by deficiency of type VII collagen due to COL7A1 mutations such as c.6527insC, recurrently found in the Spanish RDEB population. 23947675

2014

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE In our clinical observations of severe generalized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blistering genodermatosis caused by loss-of-function mutations in COL7A1 that results in a deficit of type VII collagen (C7), we have observed patches of healthy-appearing skin on some individuals. 24317394

2014

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Recessive dystrophic epidermolysis bullosa (RDEB) is characterized by a functional deficit of type VII collagen protein due to gene defects in the type VII collagen gene (COL7A1). 23546300

2014

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Mutations in the gene encoding type VII collagen COL7A1 cause recessive dystrophic epidermolysis bullosa (RDEB) an inherited skin blistering condition complicated by frequent aggressive cutaneous squamous cell carcinoma (cSCC). 24357722

2014

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 AlteredExpression BEFREE Isolated RTMs were then adapted for endogenous trans-splicing in a recessive dystrophic epidermolysis bullosa (RDEB) keratinocyte cell line expressing reduced levels of COL7A1 mRNA. 23320616

2013

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa. 23226319

2013

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE These findings, which were validated in human wounds, identify COL7A1 as a critical player in physiological wound healing in humans and mice and may facilitate development of therapeutic strategies not only for RDEB, but also for other chronic wounds. 23867500

2013

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Reduction of COL7A1, the defective gene in RDEB, in normal dermal fibroblasts led to increased type XII collagen, thrombospondin-1, and Wnt-5A, while reexpression of wild type COL7A1 in RDEB fibroblasts decreased type XII collagen, thrombospondin-1, and Wnt-5A expression, reduced tumor cell invasion in organotypic culture, and restricted tumor growth in vivo. 22564523

2012