DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs267607570 ×

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:

rs267607570

LMNA

0.700

CausalMutation

CLINVAR

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

26084686

2015

dbSNP:

rs267607570

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:

rs267607570

LMNA

0.700

CausalMutation

CLINVAR

Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.

19638735

2009

dbSNP:

rs267607570

LMNA

0.700

CausalMutation

CLINVAR

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

18585512

2008