Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		0.920 GermlineCausalMutation ORPHANET De novo LMNA mutations cause a new form of congenital muscular dystrophy. 18551513

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		0.800 GermlineCausalMutation ORPHANET Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 12075506

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GermlineCausalMutation ORPHANET Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 10739751

2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		0.800 GermlineCausalMutation ORPHANET Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585

2000
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 GermlineCausalMutation ORPHANET

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		0.710 GermlineCausalMutation ORPHANET LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. 19283854

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 GermlineCausalMutation ORPHANET Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. 19020898

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 GermlineCausalMutation ORPHANET Restrictive dermopathy: a rare laminopathy. 18470519

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		0.700 GermlineCausalMutation ORPHANET Heart-hand syndrome of Slovenian type: a new kind of laminopathy. 18611980

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		0.700 GermlineCausalMutation ORPHANET

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		0.530 GermlineCausalMutation ORPHANET

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 GeneticVariation ORPHANET The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. 18041775

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		0.510 GeneticVariation ORPHANET Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. 15298354

2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.410 SusceptibilityMutation ORPHANET

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GermlineCausalMutation ORPHANET Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. 19270485

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		0.400 GermlineCausalMutation ORPHANET In four (15%) of 26 patients with atypical Werner's syndrome, we noted heterozygosity for novel missense mutations in LMNA, specifically A57P, R133L (in two people), and L140R. 12927431

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.300 GermlineCausalMutation ORPHANET Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC). 23736219

2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C4750858
Disease: LMNA-related cardiocutaneous progeria syndrome
LMNA-related cardiocutaneous progeria syndrome 		0.300 GermlineCausalMutation ORPHANET LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 23666920

2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		0.300 GermlineCausalMutation ORPHANET Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. 22199124

2012
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome 		0.300 GermlineCausalMutation ORPHANET Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 19283854

2009