DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Benign Infantile Myoclonic Epilepsy ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

CUI:	C0751120
Disease:	Benign Infantile Myoclonic Epilepsy

Benign Infantile Myoclonic Epilepsy

0.300

Biomarker

CTD_human

Myoclonic seizures in a patient with Charcot-Marie-tooth disease.

2007