LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033300
Disease: Progeria
Progeria 		1.000 GeneticVariation disease CLINVAR
CUI: C0033300
Disease: Progeria
Progeria 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.920 GeneticVariation disease CLINVAR
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.920 Biomarker disease CTD_human
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.920 CausalMutation disease CLINVAR
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		0.900 Biomarker disease CTD_human
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.800 CausalMutation disease CLINVAR
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GeneticVariation disease CLINVAR
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 Biomarker disease CTD_human
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 Biomarker disease CTD_human
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.700 Biomarker disease MGD
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.700 CausalMutation disease CLINVAR
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.700 GeneticVariation disease CLINVAR
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 Biomarker group HPO