DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Cardio-facio-cutaneous syndrome ×

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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:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

GENOMICS_ENGLAND

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.570

Biomarker

CLINGEN

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	5500
Gene Symbol:	PPP1CB

PPP1CB

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	6237
Gene Symbol:	RRAS

RRAS

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	144568
Gene Symbol:	A2ML1

A2ML1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	5921
Gene Symbol:	RASA1

RASA1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	5922
Gene Symbol:	RASA2

RASA2

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	6655
Gene Symbol:	SOS2

SOS2

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	22808
Gene Symbol:	MRAS

MRAS

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.300

Biomarker

CLINGEN

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

CLINGEN

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

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.

16825433

2006

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

GENOMICS_ENGLAND

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

CTD_human

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

GENOMICS_ENGLAND

The cardiofaciocutaneous syndrome.

16825433

2006

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

CLINGEN

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

GeneticVariation

UNIPROT

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

16474404

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

GENOMICS_ENGLAND

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

16372351

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

CTD_human

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

GENOMICS_ENGLAND

The cardiofaciocutaneous syndrome.

16825433

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

GeneticVariation

UNIPROT

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

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.

16825433

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

1.000

Biomarker

CLINGEN

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

16474404

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.

16825433

2006