DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Myopathy ×

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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:	1211
Gene Symbol:	CLTA

CLTA

clathrin light chain A

0.628

0.654

0.96

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.100

None

Entrez Id:	2548
Gene Symbol:	GAA

GAA

glucosidase alpha, acid

0.631

0.577

2.8E-18

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.150

None

0.800

1986

2004

Entrez Id:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

interferon regulatory factor 2 binding protein like

0.631

0.462

0.84

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.100

None

Entrez Id:	1180
Gene Symbol:	CLCN1

CLCN1

chloride voltage-gated channel 1

0.641

0.423

3.3E-20

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.180

None

1.000

2000

2019

Entrez Id:	37
Gene Symbol:	ACADVL

ACADVL

acyl-CoA dehydrogenase very long chain

0.653

0.654

4.2E-15

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.110

None

1.000

2014

Entrez Id:	23245
Gene Symbol:	ASTN2

ASTN2

astrotactin 2

0.666

0.462

1.00

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.100

None

Entrez Id:	4604
Gene Symbol:	MYBPC1

MYBPC1

myosin binding protein C1

0.666

0.462

4.8E-05

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.140

None

1.000

2013

2019

Entrez Id:	8557
Gene Symbol:	TCAP

TCAP

titin-cap

0.682

0.538

0.19

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.120

None

1.000

2014

2017

Entrez Id:	79912
Gene Symbol:	PYROXD1

PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1

0.769

0.269

6.3E-09

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.410

strong

1.000

2016

2019

Entrez Id:	4571
Gene Symbol:	TRNP

TRNP

tRNA

0.792

0.423

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.100

None

Entrez Id:	54344
Gene Symbol:	DPM3

DPM3

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

0.839

0.308

0.23

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.100

None

Entrez Id:	100128560
Gene Symbol:	MYHAS

MYHAS

myosin heavy chain gene cluster antisense RNA

0.890

0.269

CUI:	C0026848
Disease:	Myopathy

Myopathy

group

0.100

None