ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
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.
Aortic Aneurysm, Familial Thoracic 6
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 3 16 0.700 None 1.000 26 16 2007 2017
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
disease Disease or Syndrome 4 1 0.780 None 1.000 16 1 2007 2019
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.600 definitive 1.000 14 8 2000 2016
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.600 strong 1.000 12 2 2009 2018
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.200 None 1.000 11 2007 2018
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.390 None 1.000 9 2 2009 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.320 None 1.000 5 2014 2018
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
disease Cardiovascular Diseases Disease or Syndrome 152 16 0.050 None 1.000 5 2014 2019
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.140 None 1.000 4 2 2012 2018
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 41 60 0.430 None 1.000 4 2007 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.040 None 1.000 4 2009 2017
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
disease Disease or Syndrome 3 3 0.700 None 1.000 4 3 2007 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.030 None 1.000 3 2001 2012
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.130 None 1.000 3 2009 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.030 None 1.000 3 2009 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.300 None 1.000 3 2014 2018
CUI: C0241868
Disease: acute aortic dissection
acute aortic dissection
disease Cardiovascular Diseases Disease or Syndrome 63 0.030 None 1.000 3 2014 2018
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 16 19 0.030 None 1.000 3 1 2009 2016
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.130 None 1.000 3 2009 2019
CUI: C1303010
Disease: Mydriasis, Congenital
Mydriasis, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 1 0.030 None 0.667 3 2012 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.030 None 1.000 3 2009 2017
Patent ductus arteriosus - persisting type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 30 10 0.030 None 1.000 3 2 2012 2018
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.310 None 1.000 2 2011 2019
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 2 2015 2016
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.020 None 1.000 2 2011 2014