DisGeNET - a database of gene-disease associations

Hallopeau-Siemens Disease, C0079474

Gene: COL7A1 ×

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

0.800

CausalMutation

CLINVAR

Novel and recurrent COL7A1 mutation in a Polish population.

22266148

2012

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

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

20598510

2010

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

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

20598510

2010

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

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

20598510

2010

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

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

20598510

2010

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

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

20598510

2010

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

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

20598510

2010

dbSNP:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

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

20598510

2010

dbSNP:

rs121912856

COL7A1

0.800

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:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

12787275

2003

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

12787275

2003

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

12787275

2003

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

12787275

2003

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

12787275

2003

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

12787275

2003

dbSNP:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

12787275

2003

dbSNP:

rs121912856

COL7A1

0.800

CausalMutation

CLINVAR

In RDEB patients, six recurrent mutations were identified: 7344G-->A, 425A-->G, 8441-14del21, 4783-1G-->A, 497insA, and G1664A, the last three being found only in Italian patients.

12485454

2002

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

11167698

2001

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

11167698

2001

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

11167698

2001

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

11167698

2001

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

11167698

2001

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

11167698

2001

dbSNP:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

11167698

2001

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.

10620140

2000