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:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

9740253

1998

dbSNP:

rs121912856

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

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

9215684

1997

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

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:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

9444387

1997

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

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:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

9215684

1997

dbSNP:

rs121912838

COL7A1

0.800

GeneticVariation

UNIPROT

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

9444387

1997

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

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:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

9444387

1997

dbSNP:

rs121912839

COL7A1

0.800

GeneticVariation

UNIPROT

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

9215684

1997

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

9215684

1997

dbSNP:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

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:

rs121912849

COL7A1

0.800

GeneticVariation

UNIPROT

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

9444387

1997

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

9444387

1997

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

9215684

1997

dbSNP:

rs121912851

COL7A1

0.800

GeneticVariation

UNIPROT

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:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

9215684

1997

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

9444387

1997

dbSNP:

rs121912853

COL7A1

0.800

GeneticVariation

UNIPROT

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:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

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:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.

9444387

1997

dbSNP:

rs121912856

COL7A1

0.800

GeneticVariation

UNIPROT

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

9215684

1997

dbSNP:

rs121912828

COL7A1

0.800

GeneticVariation

UNIPROT

Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

8618018

1996

dbSNP: