Gene: LMNA ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Contact sensitivity to phenylbutazone (Butazolidine) cream. 1839274 1991
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR [Urinary incontinence in women is treated differently depending on the type]. 2280636 1990
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 10080180 1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070 1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 10739764 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 10814726 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 10939567 2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 11503164 2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226 2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809 2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. 11792810 2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. 11897440 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Emery-Dreifuss muscular dystrophy. 11973618 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. 12467752 2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 12628721 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. 12629077 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 12673789 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. 12783988 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR LMNA mutations in atypical Werner's syndrome. 12927431 2003