DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Epidermolysis bullosa, pretibial ×

The Variant filter does not apply in GDA tabs

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

collagen type VII alpha 1 chain

0.545

0.808

2.4E-40

CUI:	C0432321
Disease:	Epidermolysis bullosa, pretibial

Epidermolysis bullosa, pretibial

disease

0.750

strong

1.000

1995

2018

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

collagen type II alpha 1 chain

0.444

0.846

1.00

CUI:	C0432321
Disease:	Epidermolysis bullosa, pretibial

Epidermolysis bullosa, pretibial

disease

0.100

None

0

Entrez Id:	977
Gene Symbol:	CD151

CD151

CD151 molecule (Raph blood group)

0.564

0.654

1.1E-05

CUI:	C0432321
Disease:	Epidermolysis bullosa, pretibial

Epidermolysis bullosa, pretibial

disease

0.100

None

0