DisGeNET - a database of gene-disease associations

UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125

Disease: Epileptic encephalopathy ×

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

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