DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Malouf syndrome ×

Variant: rs58922911 ×

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:

rs58922911

LMNA

CUI:	C0796031
Disease:	Malouf syndrome

Malouf syndrome

0.800

GeneticVariation

UNIPROT

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

19283854

2009

dbSNP:

rs58922911

LMNA

CUI:	C0796031
Disease:	Malouf syndrome

Malouf syndrome

0.800

GeneticVariation

UNIPROT

Collagen expression in fibroblasts with a novel LMNA mutation.

17150192

2007

dbSNP:

rs58922911

LMNA

CUI:	C0796031
Disease:	Malouf syndrome

Malouf syndrome

0.800

GeneticVariation

UNIPROT

LMNA mutations in atypical Werner's syndrome.

12927431

2003

dbSNP:

rs58922911

LMNA

CUI:	C0796031
Disease:	Malouf syndrome

Malouf syndrome

0.800

CausalMutation

CLINVAR