DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: X-Linked Emery-Dreifuss Muscular Dystrophy ×

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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:	4625
Gene Symbol:	MYH7

MYH7

CUI:	C0751337
Disease:	X-Linked Emery-Dreifuss Muscular Dystrophy

X-Linked Emery-Dreifuss Muscular Dystrophy

0.700

GeneticVariation

UNIPROT

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

2007