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: 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: C0403647
Disease: Hypotonic bladder disorder
Hypotonic bladder disorder 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 2 0.010 None 1.000 1 1 2013 2013
CUI: C0741621
Disease: Brachial artery occlusion
Brachial artery occlusion 		disease Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C0232474
Disease: Increased peristalsis
Increased peristalsis 		phenotype Finding 1 0.100 None 0
CUI: C0281967
Disease: Retinal infarction
Retinal infarction 		disease Disease or Syndrome 1 0.100 None 0
CUI: C0158638
Disease: Congenital anomaly of cerebrovascular system
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: C4477072
Disease: Iris flocculi
Iris flocculi 		phenotype Anatomical Abnormality 2 0.020 None 1.000 2 2015 2019
CUI: C0392775
Disease: Cystic medial necrosis of aorta
Cystic medial necrosis of aorta 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C4289994
Disease: Adenosine Deaminase 2 Deficiency
Adenosine Deaminase 2 Deficiency 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1846837
Disease: Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 2 		disease Cardiovascular Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		phenotype Finding 2 3 0.100 None 0 1
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
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: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		disease Disease or Syndrome 4 1 0.780 None 1.000 16 1 2007 2019
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 13 0.010 None 1.000 1 2019 2019
CUI: C4293686
Disease: Periventricular white matter hyperdensities
Periventricular white matter hyperdensities 		phenotype Pathologic Function 4 1 0.100 None 0
CUI: C2931117
Disease: Fetal megacystis
Fetal megacystis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 4 0.010 None 1.000 1 1 2012 2012
CUI: C0750145
Disease: Occlusive vascular disease
Occlusive vascular disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2019 2019
CUI: C1299567
Disease: Neonatal stroke
Neonatal stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 0.010 None 1.000 1 2013 2013
CUI: C3888570
Disease: Degenerative mitral valve disease
Degenerative mitral valve disease 		disease Disease or Syndrome 10 0.010 None 1.000 1 2016 2016
CUI: C4732796
Disease: Apical hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2007 2007
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		disease Disease or Syndrome 10 0.100 None 0
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal 		disease Cardiovascular Diseases Disease or Syndrome 11 0.300 None 1.000 1 2007 2007
CUI: C1876165
Disease: Copper-Overload Cirrhosis
Copper-Overload Cirrhosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2012 2012
CUI: C1619692
Disease: Nephrogenic Fibrosing Dermopathy
Nephrogenic Fibrosing Dermopathy 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 13 0.300 None 1.000 1 2010 2010