DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Depressed nasal bridge ×

Gene: BRAF ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913355

BRAF

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913375

BRAF

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

CausalMutation

CLINVAR

dbSNP:

rs180177035

BRAF

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

CausalMutation

CLINVAR

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

16474404

2006

dbSNP:

rs180177035

BRAF

CUI:	C1836542
Disease:	Depressed nasal bridge

Depressed nasal bridge

0.700

CausalMutation

CLINVAR

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

16439621

2006