Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 GeneticVariation 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
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 Biomarker 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
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 GeneticVariation 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
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 CausalMutation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 GermlineCausalMutation ORPHANET