DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Abnormal blistering of the skin ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

CUI:	C2132198
Disease:	Abnormal blistering of the skin

Abnormal blistering of the skin

0.100

CausalMutation

CLINVAR

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

CUI:	C2132198
Disease:	Abnormal blistering of the skin

Abnormal blistering of the skin

0.100

GeneticVariation

CLINVAR

Entrez Id:	9927
Gene Symbol:	MFN2

MFN2

CUI:	C2132198
Disease:	Abnormal blistering of the skin

Abnormal blistering of the skin

0.100

CausalMutation

CLINVAR

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C2132198
Disease:	Abnormal blistering of the skin

Abnormal blistering of the skin

0.100

CausalMutation

CLINVAR

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

CUI:	C2132198
Disease:	Abnormal blistering of the skin

Abnormal blistering of the skin

0.100

CausalMutation

CLINVAR