DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Downward slant of palpebral fissure ×

Gene: BRAF ×

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:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.100

CausalMutation

CLINVAR

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

16439621

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.100

CausalMutation

CLINVAR

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

16474404

2006

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.100

GeneticVariation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.100

Biomarker

HPO