DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs56816490 ×

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:

rs56816490

LMNA

0.700

CausalMutation

CLINVAR

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

27532257

2017

dbSNP:

rs56816490

LMNA

0.700

CausalMutation

CLINVAR

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

25469153

2014

dbSNP:

rs56816490

LMNA

0.700

CausalMutation

CLINVAR

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

21846512

2012

dbSNP:

rs56816490

LMNA

0.700

CausalMutation

CLINVAR

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

11897440

2002