DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Nevi flammei, familial multiple ×

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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:	2776
Gene Symbol:	GNAQ

GNAQ

CUI:	C2931029
Disease:	Nevi flammei, familial multiple

Nevi flammei, familial multiple

0.300

SomaticCausalMutation

ORPHANET

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

2013