Source: BEFREE

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: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		disease 0.780 None 1.000 8 0 2007 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease 0.600 strong 1.000 12 2 2009 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		disease 0.430 None 1.000 3 0 2007 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease 0.390 None 1.000 9 2 2009 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease 0.320 None 1.000 2 0 2014 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease 0.310 None 1.000 1 0 2018 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease 0.310 None 1.000 1 0 2011 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease 0.310 None 1.000 1 0 2013 2014
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease 0.200 None 1.000 10 0 2007 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.140 None 1.000 4 2 2012 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease 0.130 None 1.000 3 0 2009 2017
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease 0.130 None 1.000 3 0 2009 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease 0.120 None 1.000 2 0 2017 2017
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0026961
Disease: Mydriasis
Mydriasis 		phenotype 0.120 None 1.000 2 0 2012 2014
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease 0.110 None 1.000 1 1 2013 2013
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease 0.110 None 1.000 1 0 2020 2020
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		group 0.070 None 1.000 7 2 2011 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group 0.070 None 1.000 7 0 2009 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease 0.050 None 1.000 5 0 2014 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.050 None 1.000 5 0 2011 2017
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.040 None 1.000 4 0 2009 2017
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.040 None 1.000 4 1 2014 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.040 None 1.000 4 1 2014 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		group 0.040 None 1.000 4 1 2012 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		disease 0.030 None 1.000 3 1 2009 2016