DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	23224
Gene Symbol:	SYNE2

SYNE2

spectrin repeat containing nuclear envelope protein 2

0.623

0.692

1.7E-25

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

disease

0.500

None

0