DisGeNET - a database of gene-disease associations

Hereditary Motor and Sensory-Neuropathy Type II, C0270914

Variant: rs11575937 ×

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:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

23313286

2013

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

20130076

2010

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

19201734

2009

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

10587585

2000