DisGeNET - a database of gene-disease associations

Gene: EP300 ×

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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:	2033
Gene Symbol:	EP300

EP300

CUI:	C1837249
Disease:	Malformations of Cortical Development, Group II

Malformations of Cortical Development, Group II

0.100

GeneticVariation

CLINVAR

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

2018