DisGeNET - a database of gene-disease associations

Epidermolysis Bullosa Dystrophica, C0079294

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912856

COL7A1

0.720

CausalMutation

CLINVAR

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.

20598510

2010

dbSNP:

rs121912856

COL7A1

0.720

CausalMutation

CLINVAR

The panel of recessively inherited DEB causing recurrent mutations comprise of five variants: c.425A>G, c.682+1G>A, p.R2069C, p.W796X and, unreported before, c.7154delC, which accounts for about 59% of all mutated alleles in this group.

22266148

2012

dbSNP:

rs121912856

COL7A1

0.720

CausalMutation

CLINVAR

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

8755915

1996

dbSNP:

rs121912856

COL7A1

0.720

GeneticVariation

BEFREE

We demonstrated the absence of the recurrent mutations R578X, 7786delG, and R2814X in 42 non-British patients with DEB and detected the mutations 425A-->G in a French patient and G2043R in Japanese and Chinese patients with DEB.

14727126

2004

dbSNP:

rs121912856

COL7A1

0.720

GeneticVariation

BEFREE

High recurrence of the splice-site mutation 425A-->G in central European patients with DEB should be taken into account when designing COL7A1 mutation detection strategies.

15888141

2005

dbSNP:

rs121912856

COL7A1

0.720

CausalMutation

CLINVAR

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

15888141

2005

dbSNP:

rs1055680335

COL7A1

0.700

CausalMutation

CLINVAR

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

21471992

2011

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

Revertant mosaicism in recessive dystrophic epidermolysis bullosa.

20357813

2010

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

Haplotype analysis revealed that the mutations existed on similar allelic backgrounds in different patients, consistent with propagation of common British ancestral haplotypes, although R578X and 7786delG also have been described in DEB patients from other ethnic backgrounds.

9242516

1997

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

24032424

2013

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

24947307

2015

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

26763448

2016

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

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

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.

7833933

1994

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

CLINVAR

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

10504458

1999

dbSNP:

rs144023803

COL7A1

0.700

CausalMutation

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

dbSNP:

rs1560241522

COL7A1

0.700

CausalMutation

CLINVAR

dbSNP:

rs747912732

COL7A1

0.700

GeneticVariation

CLINVAR

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

16971478

2007

dbSNP:

rs757415879

COL7A1

0.700

CausalMutation

CLINVAR

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

16484981

2006

dbSNP:

rs757415879

COL7A1

0.700

CausalMutation

CLINVAR

COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.

17916216

2007

dbSNP:

rs757415879

COL7A1

0.700

CausalMutation

CLINVAR

15888141

2005

dbSNP:

rs757415879

COL7A1

0.700

CausalMutation

CLINVAR

Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis.

12653705

2003

dbSNP:

rs757415879

COL7A1

0.700

CausalMutation

CLINVAR

Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.

27544590

2016

dbSNP:

rs757415879

COL7A1

0.700

CausalMutation

CLINVAR

Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.

25155989

2014