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.
CUI: C4477072
Disease: Iris flocculi
Iris flocculi
phenotype Anatomical Abnormality 2 0.020 None 1.000 2 2015 2019
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root
disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0
Aneurysm of descending thoracic aorta
phenotype Cardiovascular Diseases Anatomical Abnormality 15 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
Abnormality of the cerebral vasculature
disease Anatomical Abnormality 18 0.100 None 0
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality
disease Anatomical Abnormality 23 2 0.100 None 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology
disease Anatomical Abnormality 27 0.100 None 0
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery
phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 26 1 0.100 None 0
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation
phenotype Anatomical Abnormality 16 0.100 None 0
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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.030 None 1.000 3 2008 2015
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 16 19 0.030 None 1.000 3 1 2009 2016
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
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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.020 None 1.000 2 2015 2017
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.120 None 1.000 2 2017 2017
Congenital anomaly of cerebrovascular system
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.020 None 1.000 2 2014 2017
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.020 None 1.000 2 2018 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2014 2014
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 77 12 0.010 None 1.000 1 2007 2007
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.010 None 1.000 1 2018 2018
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0