DisGeNET - a database of gene-disease associations

Congenital muscular dystrophy (disorder), C0699743

Gene: SYNE1 ×

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

0.110

GeneticVariation

disease

BEFREE

Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy.

2017

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

0.110

GeneticVariation

disease

CLINVAR