DisGeNET - a database of gene-disease associations

Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive, C2673612

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:

rs121912854

rs121912854

COL7A1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs121912855

rs121912855

COL7A1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs121912856

rs121912856

COL7A1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906604

rs387906604

COL7A1 ; UCN2

A

0.700

CausalMutation

CLINVAR