DisGeNET - a database of gene-disease associations

CYFIP2, cytoplasmic FMR1 interacting protein 2, 26999

N. diseases: 95; N. variants: 6

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 ×

Variant: rs1131692231 ×

Source: ALL

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:

rs1131692231

Entrez Id:	26999
Gene Symbol:	CYFIP2

CYFIP2

CUI:	C4693925
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65

0.800

GeneticVariation

CLINVAR

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

29534297

2018

dbSNP:

rs1131692231

Entrez Id:	26999
Gene Symbol:	CYFIP2

CYFIP2

CUI:	C4693925
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1131692231

Entrez Id:	26999
Gene Symbol:	CYFIP2

CYFIP2

CUI:	C4693925
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65

0.800

CausalMutation

CLINVAR