DisGeNET - a database of gene-disease associations

rs59962885, DES

N. diseases: 8

Source: CLINVAR ×

Results per page

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED

CUI:	C1832370
Disease:	MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED

35

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.800

1.000

2014

2014

Muscle Weakness

CUI:	C0151786
Disease:	Muscle Weakness

42

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.710

1.000

2007

2007

Abnormal palate morphology

CUI:	C4021815
Disease:	Abnormal palate morphology

2

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.700

CARDIOMYOPATHY, DILATED, 1I

CUI:	C1858154
Disease:	CARDIOMYOPATHY, DILATED, 1I

1

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.700

Left Bundle-Branch Block

CUI:	C0023211
Disease:	Left Bundle-Branch Block

1

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.700

Lordosis

CUI:	C0024003
Disease:	Lordosis

15

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.700

Paroxysmal supraventricular tachycardia

CUI:	C0030590
Disease:	Paroxysmal supraventricular tachycardia

1

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.700

Transitional atrioventricular canal defect

CUI:	C4023289
Disease:	Transitional atrioventricular canal defect

1

0.807

0.200

2

219420939

missense variant

G/A;C;T

snv

6.8E-05

0.700