DisGeNET - a database of gene-disease associations

Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails, C0268371

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:

rs1203706188

rs1203706188

COL7A1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs121912832

rs121912832

COL7A1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs121912856

rs121912856

COL7A1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs144023803

rs144023803

COL7A1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs200972872

rs200972872

COL7A1

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs201728948

rs201728948

COL7A1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs368007918

rs368007918

COL7A1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs761234904

rs761234904

COL7A1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs762162799

rs762162799

COL7A1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs886058642

rs886058642

COL7A1

T

0.700

CausalMutation

CLINVAR