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

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:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

group

0.100

None

Entrez Id:	1308
Gene Symbol:	COL17A1

COL17A1

collagen type XVII alpha 1 chain

0.545

0.769

2.3E-27

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

group

0.100

None

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

fibrillin 1

0.417

0.846

1.00

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

group

0.100

None

Entrez Id:	2312
Gene Symbol:	FLG

FLG

filaggrin

0.525

0.846

2.9E-04

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

group

0.100

None

Entrez Id:	339400
Gene Symbol:	FLG-AS1

FLG-AS1

FLG antisense RNA 1

0.700

0.538

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

group

0.100

None

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

methyl-CpG binding protein 2

0.414

0.846

0.89

CUI:	C0037268
Disease:	Skin Abnormalities

Skin Abnormalities

group

0.100

None