DisGeNET - a database of gene-disease associations

Hallopeau-Siemens Disease, C0079474

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:

rs121912838

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

dbSNP:

rs121912839

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

dbSNP:

rs121912849

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

dbSNP:

rs121912851

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

dbSNP:

rs121912853

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

dbSNP:

rs121912856

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

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

10084325

1999

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

10084325

1999

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

10084325

1999

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

10084325

1999

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

10084325

1999

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

10084325

1999

dbSNP:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

10084325

1999

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

9804332

1998

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

9740253

1998

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

9804332

1998

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

9740253

1998

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

9804332

1998

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

9740253

1998

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

9740253

1998

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

9804332

1998

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

9740253

1998

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

9804332

1998

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.

9804332

1998

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

9740253

1998