Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.100 None 1.000 154 87 1990 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		disease 0.800 None 1.000 28 25 1991 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease 0.100 None 1.000 16 2 1990 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		disease 0.410 None 1.000 16 2 1990 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.150 None 1.000 9 3 1996 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		disease 0.900 None 1.000 5 4 1999 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.100 None 1.000 3 2 2006 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.800 None 1.000 2 17 2000 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0264906
Disease: Second degree atrioventricular block
Second degree atrioventricular block 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		phenotype 0.110 None 1.000 1 1 2016 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0079035
Disease: Bradyarrhythmia (disorder)
Bradyarrhythmia (disorder) 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.200 None 1.000 0 2 2005 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		disease 0.710 None 1.000 0 4 2003 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease 0.200 None 1.000 0 1 2008 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis 		disease 0.800 None 1.000 0 8 2002 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.200 None 1.000 0 14 2000 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		disease 0.700 None 1.000 0 3 2008 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		disease 0.700 None 1.000 0 4 2002 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		disease 0.410 None 1.000 0 2 2004 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.140 None 1.000 0 2 2012 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group 0.120 None 1.000 0 1 2005 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		disease 0.920 None 1.000 0 13 2002 2017