LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0037188
Disease: Sinoatrial Block
Sinoatrial Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 0.400 None 1.000 1 2005 2005
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.400 None 1.000 1 2005 2005
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.360 None 1.000 7 2005 2019
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 20 33 0.330 None 1.000 6 2000 2018
CUI: C0018794
Disease: Heart Block
Heart Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 58 7 0.330 None 1.000 4 1 2001 2020
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.320 None 1.000 3 2005 2012
CUI: C1136321
Disease: HIV-Associated Lipodystrophy Syndrome
HIV-Associated Lipodystrophy Syndrome 		disease Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 12 0.310 None 1.000 2 2003 2008
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.310 None 1.000 2 2010 2017
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.310 limited 1.000 1 1 2013 2013
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 14 0.300 None 1.000 4 2003 2009
CUI: C1832931
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 6 5 0.300 None 1.000 2 2012 2014
CUI: C0036420
Disease: Localized scleroderma
Localized scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 51 0.300 None 1.000 1 2005 2005
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.300 None 1.000 1 2007 2007
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome 		disease Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0004331
Disease: Auriculo-Ventricular Dissociation
Auriculo-Ventricular Dissociation 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 4 0.300 None 1.000 1 2005 2005
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 0.300 None 1.000 1 2005 2005
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 42 6 0.300 limited 1.000 1 2013 2013
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 27 32 0.300 None 1.000 1 2005 2005
CUI: C0263409
Disease: Linear Scleroderma
Linear Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 9 0.300 None 1.000 1 2005 2005
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 1 0.300 None 1.000 1 2005 2005
CUI: C1527383
Disease: Morphea
Morphea 		disease Skin and Connective Tissue Diseases Disease or Syndrome 20 0.300 None 1.000 1 2005 2005
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 144 0.300 None 1.000 1 2011 2011
CUI: C4750858
Disease: LMNA-related cardiocutaneous progeria syndrome
LMNA-related cardiocutaneous progeria syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.290 None 1.000 10 3 2004 2018
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 110 0.220 None 1.000 3 1 2012 2018