COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Cockayne-Touraine Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE We report a Japanese pedigree with dominant dystrophic epidermolysis bullosa (DDEB) harboring the p.G2251E mutation of COL7A1. 28008652 2017
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. 22515571 2013
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB) caused by mutation of the COL7A1 gene. 23624125 2013
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Here, we have synthesized and studied the properties of a 15-mer PNA fully complementary to the site of the c.5272-38T>A sequence variation, which identifies a recurrent mutant COL7A1 allele causing dominant dystrophic epidermolysis bullosa (DDEB), a mendelian disease characterized by skin blistering. 24121392 2013
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 PosttranslationalModification disease BEFREE Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa. 21352278 2011
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. 21574979 2011
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. 19250433 2009
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa. 19486058 2009
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the triple helix of COL7A1 although other missense mutations, deletions or splice-site mutations may underlie some cases. 18558993 2008
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1). 16923137 2006
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. 15113589 2004
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa. 12823310 2003
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. 11260189 2001
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 Biomarker disease BEFREE A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. 10836608 2000
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. 11142768 2000
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). 10233777 1999
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. 9892921 1998
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. 9718359 1998
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Thus, TBDN in this family is caused by a mutation in COL7A1, and is therefore allelic with other variants of dominant dystrophic epidermolysis bullosa. 9406826 1997
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. 9347800 1997
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE The dominant dystrophic epidermolysis bullosa phenotype in this family probably arose because of a dominant negative effect of this mutation in COL7A1, resulting in the formation of structurally abnormal anchoring fibrils. 7861014 1995
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 Biomarker disease BEFREE Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. 1347297 1992
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 GeneticVariation disease BEFREE Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. 1680286 1991
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		0.400 Biomarker disease CTD_human