DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61, C4693688

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:	53616
Gene Symbol:	ADAM22

ADAM22

0.600

Biomarker

disease

GENOMICS_ENGLAND

Autozygome and high throughput confirmation of disease genes candidacy.

30237576

2019

Entrez Id:	53616
Gene Symbol:	ADAM22

ADAM22

0.600

GeneticVariation

disease

UNIPROT

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

27066583

2016

Entrez Id:	53616
Gene Symbol:	ADAM22

ADAM22

0.600

CausalMutation

disease

CLINVAR