ACTN2, actinin alpha 2, 88

N. diseases: 35; N. variants: 9
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: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		disease Cardiovascular Diseases Disease or Syndrome 1 5 0.700 strong 1.000 6 5 2004 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.140 None 1.000 4 4 2006 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.030 None 1.000 3 1 2014 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.120 None 1.000 3 2 2004 2019
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 83 47 0.300 None 1.000 2 2004 2014
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.020 None 1.000 2 2010 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.010 None 1.000 1 2014 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2018 2018
CUI: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 330 126 0.010 None 1.000 1 2014 2014
CUI: C0014117
Disease: Endocardial Fibroelastosis
Endocardial Fibroelastosis 		disease Cardiovascular Diseases Disease or Syndrome 11 2 0.110 None 1.000 1 2004 2004
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.110 None 1.000 1 2019 2019
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		disease Infections; Cardiovascular Diseases Disease or Syndrome 102 33 0.010 None 1.000 1 2018 2018
CUI: C0040921
Disease: Trichomonas Infections
Trichomonas Infections 		group Infections Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.010 None 1.000 1 1 2019 2019
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 106 33 0.010 None 1.000 1 2014 2014
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 18 5 0.010 None 1.000 1 2014 2014
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.010 None 1.000 1 2001 2001
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.310 None 1.000 1 2019 2019
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.010 None 1.000 1 2014 2014
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2018 2018
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.010 None 1.000 1 1 2017 2017
CUI: C1962942
Disease: TRICHOMONAS VAGINALIS (finding)
TRICHOMONAS VAGINALIS (finding) 		disease Disease or Syndrome 56 0.010 None 1.000 1 2017 2017
CUI: C3888204
Disease: ACTN3 DEFICIENCY
ACTN3 DEFICIENCY 		disease Disease or Syndrome 4 1 0.010 None < 0.001 1 2001 2001
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.100 None 0