DisGeNET - a database of gene-disease associations

CHD2, chromodomain helicase DNA binding protein 2, 1106

N. diseases: 99; N. variants: 55

Disease: Febrile Convulsions ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.110

GeneticVariation

disease

BEFREE

The severity of the phenotypes of CHD2 mutations ranged from mild febrile seizures to severe epileptic encephalopathy.

2019

CUI:	C0009952
Disease:	Febrile Convulsions

Febrile Convulsions

0.110

Biomarker

disease

HPO