Source: HPO

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: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group 0.700 strong 1.000 0 0 1997 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.500 None 0.994 0 0 1996 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		disease 0.460 None 1.000 0 0 1999 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease 0.450 None 0.833 0 0 2008 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease 0.410 None 1.000 0 0 2005 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0037188
Disease: Sinoatrial Block
Sinoatrial Block 		disease 0.400 None 1.000 0 0 2005 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype 0.400 None 1.000 0 0 2005 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.400 None 0.938 0 0 1999 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease 0.300 None 1.000 0 0 2007 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.200 None 0.727 0 0 2000 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.200 None 0.929 0 0 2001 2010
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease 0.200 None 0.983 0 0 2000 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		disease 0.200 None 1.000 0 0 2010 2019
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 0 2000 2020
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 0 2008 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype 0.200 None 1.000 0 0 2003 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.200 None 1.000 0 0 2003 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease 0.200 None 1.000 0 0 2000 2018
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 0 2005 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease 0.190 None 1.000 0 0 2003 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease 0.170 None 0.857 0 0 2003 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.170 None 0.857 0 0 2000 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.150 None 1.000 0 0 2004 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease 0.150 None 1.000 0 0 2000 2004
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease 0.150 None 1.000 0 0 2000 2019