DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Cardio-facio-cutaneous syndrome ×

Results per page

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:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

GermlineCausalMutation

ORPHANET

The cardiofaciocutaneous syndrome.

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

GermlineCausalMutation

ORPHANET

The cardiofaciocutaneous syndrome.

2006

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.800

GermlineCausalMutation

ORPHANET

The cardiofaciocutaneous syndrome.

2006

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.800

GermlineCausalMutation

ORPHANET

The cardiofaciocutaneous syndrome.

2006