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 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 Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. 14627682 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR LMNA mutations in atypical Werner's syndrome. 14615128 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 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 15372542 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. 14749366 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. 14607793 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. 15053843 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. 16218190 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 16061563 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 GeneticVariation disease CLINVAR In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. 16061563 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. 16218190 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]. 15724423 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. 16174718 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. 15678000 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress. 15982412 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. 16630578 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers. 16386954 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy. 16537768 2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy. 17605093 2007