DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Palmoplantar blistering ×

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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:	3861
Gene Symbol:	KRT14

KRT14

CUI:	C4024876
Disease:	Palmoplantar blistering

Palmoplantar blistering

0.100

CausalMutation

CLINVAR

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

CUI:	C4024876
Disease:	Palmoplantar blistering

Palmoplantar blistering

0.100

GeneticVariation

CLINVAR

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

CUI:	C4024876
Disease:	Palmoplantar blistering

Palmoplantar blistering

0.100

CausalMutation

CLINVAR