DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Familial Hypertrophic Cardiomyopathy Type 4 ×

Variant: rs397515937 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397515937

MYBPC3

CUI:	C1861862
Disease:	Familial Hypertrophic Cardiomyopathy Type 4

Familial Hypertrophic Cardiomyopathy Type 4

0.700

CausalMutation

CLINVAR

Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

25031304

2014

dbSNP:

rs397515937

MYBPC3

CUI:	C1861862
Disease:	Familial Hypertrophic Cardiomyopathy Type 4

Familial Hypertrophic Cardiomyopathy Type 4

0.700

CausalMutation

CLINVAR

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

11499719

2001

dbSNP:

rs397515937

MYBPC3

CUI:	C1861862
Disease:	Familial Hypertrophic Cardiomyopathy Type 4

Familial Hypertrophic Cardiomyopathy Type 4

0.700

CausalMutation

CLINVAR

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

7493026

1995