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 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 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 20848652 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. 27723096 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. 24508248 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. 20980393 2010
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 A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block. 25469153 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Atypical progeroid syndrome due to heterozygous missense LMNA mutations. 19875478 2009
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
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR A conserved splicing mechanism of the LMNA gene controls premature aging. 21875900 2011
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans. 21653823 2011
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 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 14684700 2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768 2016
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 Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. 27876398 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. 17347251 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. 17987279 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Progerin expression disrupts critical adult stem cell functions involved in tissue repair. 25567453 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. 19842191 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.100 CausalMutation disease CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013