DisGeNET - a database of gene-disease associations

rs760187215, MYH7

N. diseases: 6

Source: ALL

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.

Acrocyanosis

CUI:	C0221347
Disease:	Acrocyanosis

5

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

0.700

Cardiomyopathy, Dilated

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

509

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

0.700

Dilatation of the ventricular cavity

CUI:	C4476545
Disease:	Dilatation of the ventricular cavity

2

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

0.700

Electrocardiogram change

CUI:	C0855329
Disease:	Electrocardiogram change

27

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

0.700

Impaired exercise tolerance

CUI:	C0424551
Disease:	Impaired exercise tolerance

7

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

0.700

Left ventricular noncompaction cardiomyopathy

CUI:	C4021133
Disease:	Left ventricular noncompaction cardiomyopathy

28

1.000

0.040

14

23431859

missense variant

C/T

snv

8.0E-06

0.700