DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: LMNA ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs58932704

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.810

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012

dbSNP:

rs58932704

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.810

GeneticVariation

UNIPROT

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

27234031

2017

dbSNP:

rs60934003

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012

dbSNP:

rs60934003

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

27234031

2017

dbSNP:

rs57629361

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs57520892

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012

dbSNP:

rs57520892

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

27234031

2017

dbSNP:

rs57207746

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

27234031

2017

dbSNP:

rs57207746

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012

dbSNP:

rs121912496

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

27234031

2017

dbSNP:

rs121912496

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.800

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012

dbSNP:

rs59653062

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.710

GeneticVariation

UNIPROT

dbSNP:

rs58034145

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.710

GeneticVariation

UNIPROT

dbSNP:

rs61616775

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs61578124

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs61527854

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs61444459

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs61235244

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012

dbSNP:

rs61235244

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

27234031

2017

dbSNP:

rs61177390

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012

dbSNP:

rs61177390

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

27234031

2017

dbSNP:

rs61094188

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs60992550

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs60864230

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs60695352

LMNA

CUI:	C0410190
Disease:	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

0.700

GeneticVariation

UNIPROT

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

22431096

2012