Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.700 GeneticVariation disease UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.700 GeneticVariation disease UNIPROT Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 22431096 2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.700 CausalMutation disease CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.700 GermlineCausalMutation disease ORPHANET