DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs267607571 ×

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:

rs267607571

LMNA

0.700

CausalMutation

CLINVAR

Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

28416588

2017

dbSNP:

rs267607571

LMNA

0.700

CausalMutation

CLINVAR

Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

26899768

2016

dbSNP:

rs267607571

LMNA

0.700

CausalMutation

CLINVAR

Viscoelastic behavior of human lamin A proteins in the context of dilated cardiomyopathy.

24386194

2013

dbSNP:

rs267607571

LMNA

0.700

CausalMutation

CLINVAR

Structural alterations of Lamin A protein in dilated cardiomyopathy.

23701190

2013

dbSNP:

rs267607571

LMNA

0.700

CausalMutation

CLINVAR

Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

20160190

2010

dbSNP:

rs267607571

LMNA

0.700

CausalMutation

CLINVAR

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

18795223

2009

dbSNP:

rs267607571

LMNA

0.700

CausalMutation

CLINVAR

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

11897440

2002