DisGeNET - a database of gene-disease associations

Epilepsy, Cryptogenic, C0086237

Gene: MEF2C ×

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4208
Gene Symbol:	MEF2C

MEF2C

0.300

Biomarker

disease

CTD_human

De novo variants in neurodevelopmental disorders with epilepsy.

2018

Entrez Id:	4208
Gene Symbol:	MEF2C

MEF2C

0.300

Biomarker

disease

CTD_human

Refining the phenotype associated with MEF2C haploinsufficiency.

2010