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 GeneticVariation BEFREE Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. 9326325

1997

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. 29473190

2018

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 monogenetic inherited genodermatosis associated with deleterious mutations in the gene encoding type VII collagen (COL7A1). 31017019

2019

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 an inherited skin disorder caused by mutations in the COL7A1 gene, which encodes collagen VII (COL7). 20169300

2010

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Thus, the HS-RDEB phenotype in this patient is due to complete maternal isodisomy of chromosome 3 and reduction to homozygosity of the mutant COL7A1 gene locus. 16710310

2006

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 GeneticVariation BEFREE Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations. 21382783

2011

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE These data strongly suggest that COL7A1 mutations cause EB in these families and, combined with previous studies, indicate locus homogeneity. 7837248

1994

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa. 9666834

1998

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

2014

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE We hope that these data contribute to the expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa, and further illustrate the extensive diversity of mutational events that led to the RDEB phenotype. 11378329

2001

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 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

2014

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE This finding expands the allelic series of COL7A1 mutations underlying mild recessive dystrophic epidermolysis bullosa (RDEB) and sheds further light upon regions of the type VII collagen triple helix that are tolerant of heterozygous glycine substitutions. 17229600

2007

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. 9375858

1997

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency. 12558638

2003

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 an inherited blistering skin disorder caused by mutations in the COL7A1 gene-encoding type VII collagen (Col7), the major component of anchoring fibrils at the dermal-epidermal junction. 21124339

2011

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). 8900535

1996

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 Biomarker BEFREE Here, we submit the model that BM-MSC-derived extracellular vesicles serve at least two roles: 1) to help transport type VII collagen within the extracellular space; and 2) to feed RDEB fibroblasts with messenger RNA that codes for type VII collagen, resulting in COL7A1 translation and synthesis of type VII collagen alpha chain proteins by RDEB fibroblasts. 29653141

2018

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE In this article, we report homozygosity for three different mutations in the COL7A1 of HS-RDEB patients. 10408773

1999

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Thus, the severe RDEB phenotype in the probands results from compound heterozygosity for one glycine substitution and one PTC mutation in COL7A1. 8644730

1996

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 debilitating and ultimately lethal blistering disease caused by mutations to the Col7a1 gene. 28892093

2017

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. 16500083

2006

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

2014

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1.000 GeneticVariation BEFREE A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. 23546949

2013