DisGeNET - a database of gene-disease associations

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

Source: ALL

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

Q02388

collagen type VII alpha 1 chain

Receptor

160

0.545

0.808

2.4E-40

0.600

strong

1.000

2

10

2002

2013