DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: MOYAMOYA DISEASE 2 ×

Gene: RNF213 ×

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:	57674
Gene Symbol:	RNF213

RNF213

CUI:	C1846689
Disease:	MOYAMOYA DISEASE 2

MOYAMOYA DISEASE 2

0.600

GeneticVariation

CLINVAR

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.

2014

Entrez Id:	57674
Gene Symbol:	RNF213

RNF213

CUI:	C1846689
Disease:	MOYAMOYA DISEASE 2

MOYAMOYA DISEASE 2

0.600

SusceptibilityMutation

CLINVAR

Entrez Id:	57674
Gene Symbol:	RNF213

RNF213

CUI:	C1846689
Disease:	MOYAMOYA DISEASE 2

MOYAMOYA DISEASE 2

0.600

CausalMutation

CLINVAR