DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs57983345 ×

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:

rs57983345

LMNA

0.700

CausalMutation

CLINVAR

LOVD v.2.0: the next generation in gene variant databases.

21520333

2011

dbSNP:

rs57983345

LMNA

0.700

CausalMutation

CLINVAR

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

18551513

2008

dbSNP:

rs57983345

LMNA

0.700

CausalMutation

CLINVAR

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

17377071

2007