LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Emery-Dreifuss Muscular Dystrophy 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 GeneticVariation disease UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		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
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 CausalMutation disease CLINVAR
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 GermlineCausalMutation disease ORPHANET