DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs794728591 ×

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:

rs794728591

LMNA

0.700

CausalMutation

CLINVAR

The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

29943882

2018

dbSNP:

rs794728591

LMNA

0.700

CausalMutation

CLINVAR

Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

29237675

2017

dbSNP:

rs794728591

LMNA

0.700

CausalMutation

CLINVAR

Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

28878402

2017

dbSNP:

rs794728591

LMNA

0.700

CausalMutation

CLINVAR

Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy.

27506821

2016

dbSNP:

rs794728591

LMNA

0.700

CausalMutation

CLINVAR

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

23183350

2013