DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Skin Abnormalities ×

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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:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

0.100

CausalMutation

CLINVAR

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

0.100

CausalMutation

CLINVAR

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

0.100

CausalMutation

CLINVAR

Entrez Id:	2312
Gene Symbol:	FLG

FLG

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

0.100

CausalMutation

CLINVAR

Entrez Id:	339400
Gene Symbol:	FLG-AS1

FLG-AS1

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

0.100

CausalMutation

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

0.100

CausalMutation

CLINVAR