DisGeNET - a database of gene-disease associations

Myofibrillar Myopathy, C2678065

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Results per page

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:	9531
Gene Symbol:	BAG3

BAG3

0.800

CausalMutation

disease

CLINVAR

Entrez Id:	9531
Gene Symbol:	BAG3

BAG3

0.800

Biomarker

disease

HPO

Entrez Id:	9531
Gene Symbol:	BAG3

BAG3

0.800

Biomarker

disease

CTD_human

Entrez Id:	1674
Gene Symbol:	DES

DES

0.700

CausalMutation

disease

CLINVAR

Entrez Id:	1674
Gene Symbol:	DES

DES

0.700

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	1410
Gene Symbol:	CRYAB

CRYAB

0.480

CausalMutation

disease

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

0.460

Biomarker

disease

HPO

Entrez Id:	11155
Gene Symbol:	LDB3

LDB3

0.410

CausalMutation

disease

CLINVAR

Entrez Id:	11155
Gene Symbol:	LDB3

LDB3

0.410

Biomarker

disease

HPO

Entrez Id:	11155
Gene Symbol:	LDB3

LDB3

0.410

Biomarker

disease

CTD_human

Entrez Id:	79912
Gene Symbol:	PYROXD1

PYROXD1

0.320

Biomarker

disease

CTD_human

Entrez Id:	339855
Gene Symbol:	KY

0.300

Biomarker

disease

CTD_human

Entrez Id:	9499
Gene Symbol:	MYOT

MYOT

0.200

Biomarker

disease

HPO

Entrez Id:	2318
Gene Symbol:	FLNC

FLNC

0.200

Biomarker

disease

HPO

Entrez Id:	9499
Gene Symbol:	MYOT

MYOT

0.200

CausalMutation

disease

CLINVAR

Entrez Id:	2273
Gene Symbol:	FHL1

FHL1

0.150

Biomarker

disease

HPO

Entrez Id:	10049
Gene Symbol:	DNAJB6

DNAJB6

0.130

GeneticVariation

disease

CLINVAR

Entrez Id:	10049
Gene Symbol:	DNAJB6

DNAJB6

0.130

Biomarker

disease

HPO

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.120

Biomarker

disease

HPO

Entrez Id:	1073
Gene Symbol:	CFL2

CFL2

0.110

Biomarker

disease

HPO

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

0.100

Biomarker

disease

HPO

Entrez Id:	131377
Gene Symbol:	KLHL40

KLHL40

0.100

Biomarker

disease

HPO

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

0.100

Biomarker

disease

HPO

Entrez Id:	1674
Gene Symbol:	DES

DES

0.700

Biomarker

disease

CTD_human

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

30055862

2018

Entrez Id:	1410
Gene Symbol:	CRYAB

CRYAB

0.480

GeneticVariation

disease

BEFREE

Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP.

19050726

2009