DisGeNET - a database of gene-disease associations

Source: CURATED ×

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0023014
Disease:	Language Development Disorders

Language Development Disorders

0.300

Biomarker

group

CTD_human

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

2015