DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathies ×

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

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1425855043

rs1425855043

PKP2

1.000

0.080

12

32878105

stop gained

C/A

snv

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs1555142963

rs1555142963

PKP2

12

32822477

frameshift variant

TCCTGCTTCGACTGCCAAAACAT/-

delins

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs1555144459

rs1555144459

PKP2

0.925

0.120

12

32841038

frameshift variant

-/A

delins

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs1565590176

rs1565590176

PKP2

12

32850767

splice region variant

T/A

snv

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs1565590309

rs1565590309

PKP2

12

32850910

stop gained

G/A

snv

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs193922674

rs193922674

PKP2

0.925

0.080

12

32802557

splice acceptor variant

C/G

snv

3.2E-05

2.8E-05

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs397516997

rs397516997

PKP2

0.925

0.080

12

32896581

frameshift variant

TCTG/-

delins

2.8E-05

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700

dbSNP:

rs869025496

rs869025496

PKP2

0.925

0.080

12

32877845

splice donor variant

C/A;G;T

snv

4.0E-06

CUI:	C0878544
Disease:	Cardiomyopathies

Cardiomyopathies

0.700