DisGeNET - a database of gene-disease associations

rs1060499604, MYBPC3

N. diseases: 4

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.

Cardiomyopathy, Hypertrophic, Familial

CUI:	C0949658
Disease:	Cardiomyopathy, Hypertrophic, Familial

355

0.851

0.080

11

47339323

splice donor variant

C/A;T

snv

4.0E-06

0.700

1.000

2009

2009

Familial Hypertrophic Cardiomyopathy Type 4

CUI:	C1861862
Disease:	Familial Hypertrophic Cardiomyopathy Type 4

145

0.851

0.080

11

47339323

splice donor variant

C/A;T

snv

4.0E-06

0.700

Hypertrophic Cardiomyopathy

CUI:	C0007194
Disease:	Hypertrophic Cardiomyopathy

635

0.851

0.080

11

47339323

splice donor variant

C/A;T

snv

4.0E-06

0.700

LEFT VENTRICULAR NONCOMPACTION 10

CUI:	C3715165
Disease:	LEFT VENTRICULAR NONCOMPACTION 10

20

0.851

0.080

11

47339323

splice donor variant

C/A;T

snv

4.0E-06

0.700