DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) ×

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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

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:	C0432322
Disease:	Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

disease

0.780

strong

1.000

1989

2017

Entrez Id:	60498
Gene Symbol:	IGAN1

IGAN1

IgA nephropathy

0.524

0.808

CUI:	C0432322
Disease:	Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

disease

0.010

None

1.000

2019