ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 40; N. variants: 21
Source: CURATED ×
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 1 0.780 None 1.000 3 1 2007 2019
Aortic Aneurysm, Familial Thoracic 6
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1 16 0.700 None 1.000 5 16 2007 2017
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
disease Disease or Syndrome 1 3 0.700 None 1.000 4 3 2007 2016
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 53 442 0.600 definitive 1.000 7 8 2000 2016
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 17 30 0.600 strong 1.000 2 2009 2018
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 7 60 0.430 None 1.000 1 2007 2018
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 33 0.390 None 1.000 2 2009 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 105 1 0.320 None 1.000 3 2014 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 95 162 0.310 None 1.000 1 2013 2014
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 85 0.310 None 1.000 1 2018 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 161 80 0.310 None 1.000 1 2011 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 103 20 0.300 None 1.000 3 2014 2018
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0.300 None 1.000 2 2015 2016
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal
disease Cardiovascular Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 161 0.300 None 1.000 1 2011 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 538 763 0.300 None 1.000 1 2014 2014
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0.300 None 1.000 1 2014 2014
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 316 0.300 None 1.000 1 2014 2014
CUI: C1619692
Disease: Nephrogenic Fibrosing Dermopathy
Nephrogenic Fibrosing Dermopathy
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.300 None 1.000 1 2010 2010
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: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0.300 None 1.000 1 2014 2014
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic
disease Digestive System Diseases Disease or Syndrome 32 0.300 None 1.000 1 2017 2017
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012