Gene: LMNA ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 GeneticVariation group CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 GeneticVariation group CLINVAR Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 28798025 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 GeneticVariation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 GeneticVariation group CLINVAR Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 24915601 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 CausalMutation group CLINVAR Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 19446900 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 GeneticVariation group CLINVAR A novel mutation in a large French-Canadian family with LGMD1B. 18714801 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 GeneticVariation group CLINVAR Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 17377071 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.150 CausalMutation group 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 		0.150 GeneticVariation group CLINVAR An alternative splicing product of the lamin A/C gene lacks exon 10. 8621584 1996