DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs794728598 ×

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:

rs794728598

LMNA

0.700

CausalMutation

CLINVAR

Inflammatory changes in infantile-onset LMNA-associated myopathy.

21632249

2011

dbSNP:

rs794728598

LMNA

0.700

CausalMutation

CLINVAR

Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

20980393

2010

dbSNP:

rs794728598

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:

rs794728598

LMNA

0.700

CausalMutation

CLINVAR

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

18551513

2008

dbSNP:

rs794728598

LMNA

0.700

CausalMutation

CLINVAR

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

17377071

2007