DisGeNET - a database of gene-disease associations

Hyperglycemia, C0020456

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

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

23853504

2013

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

22700598

2012

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

Laminopathies: multisystem dystrophy syndromes.

16364671

2006

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.

16415042

2006

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

10739751

2000

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.

10868844

2000

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

10999845

2000

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

10655060

2000

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

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

10587585

2000

dbSNP:

rs11575937

LMNA

0.700

CausalMutation

CLINVAR

Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.

2007407

1991