DisGeNET - a database of gene-disease associations

MUSK, muscle associated receptor tyrosine kinase, 4593

N. diseases: 146; N. variants: 16

Disease: Respiratory Insufficiency ×

Variant: rs751889864 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs751889864

rs751889864

Entrez Id:	4593;107987115
Gene Symbol:	MUSK;LOC107987115

MUSK;LOC107987115

CUI:	C0035229
Disease:

Respiratory Insufficiency

C

0.700

GeneticVariation

CLINVAR