DisGeNET - a database of gene-disease associations

Hypertrophic Cardiomyopathy, C0007194

Variant: rs104894504 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894504

TPM1

0.710

CausalMutation

CLINVAR

Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin.

21295541

2011

dbSNP:

rs104894504

TPM1

0.710

CausalMutation

CLINVAR

Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin.

22187526

2011

dbSNP:

rs104894504

TPM1

0.710

CausalMutation

CLINVAR

Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations.

21320446

2011

dbSNP:

rs104894504

TPM1

0.710

CausalMutation

CLINVAR

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.

11136687

2001

dbSNP:

rs104894504

TPM1

0.710

GeneticVariation

BEFREE

In contrast to other reported TPM1 mutations, V95A-associated HCM exhibits unusual features of mild phenotype but poor prognosis.

11136687

2001