DisGeNET - a database of gene-disease associations

Epidermolysis Bullosa Dystrophica, C0079294

Variant: rs1057517723 ×

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:

rs1057517723

COL7A1 ; MIR711

0.700

CausalMutation

CLINVAR

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

27899325

2017

dbSNP:

rs1057517723

COL7A1 ; MIR711

0.700

CausalMutation

CLINVAR

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

19681861

2009

dbSNP:

rs1057517723

COL7A1 ; MIR711

0.700

CausalMutation

CLINVAR

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

16439963

2006