ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 105; N. variants: 10
Source: BEFREE ×
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.
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
disease Disease or Syndrome 2 0.780 None 1.000 8 2007 2019
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 86 24 0.600 strong 1.000 12 2 2009 2018
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 34 0.430 None 1.000 3 2007 2018
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 75 21 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 1075 63 0.320 None 1.000 2 2014 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 856 25 0.310 None 1.000 1 2018 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1031 207 0.310 None 1.000 1 2011 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1582 547 0.310 None 1.000 1 2013 2014
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 229 17 0.200 None 1.000 10 2007 2018
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 303 31 0.140 None 1.000 4 2 2012 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1262 440 0.130 None 1.000 3 2009 2017
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1104 586 0.130 None 1.000 3 2009 2019
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 103 14 0.120 None 1.000 2 2017 2017
CUI: C0026961
Disease: Mydriasis
Mydriasis
phenotype Eye Diseases Sign or Symptom 17 0.120 None 1.000 2 2012 2014
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 695 24 0.110 None 1.000 1 1 2013 2013
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 566 78 0.110 None 1.000 1 2020 2020
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease
group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 101 14 0.070 None 1.000 7 2 2011 2019
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 660 40 0.070 None 1.000 7 2009 2019
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
disease Cardiovascular Diseases Disease or Syndrome 129 9 0.050 None 1.000 5 2014 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1515 412 0.050 None 1.000 5 2011 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.040 None 1.000 4 2009 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8577 1441 0.040 None 1.000 4 1 2014 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 1 2014 2019
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 231 56 0.040 None 1.000 4 1 2012 2018
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 10 3 0.030 None 1.000 3 1 2009 2016