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.
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 53 442 0.600 definitive 1.000 7 8 2000 2016
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 72 0.300 None 1.000 1 2001 2001
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 72 0.300 None 1.000 1 2001 2001
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 159 416 0.300 None 1.000 1 2004 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 152 6 0.300 None 1.000 1 2004 2004
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
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
disease Disease or Syndrome 2 1 0.780 None 1.000 3 1 2007 2019
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: 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: 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: 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: C0022116
Disease: Ischemia
Ischemia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 28 0.300 None 1.000 1 2009 2009
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 None 1.000 1 2010 2010
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: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 36 8 0.300 None 1.000 1 2010 2010
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 88 9 0.300 None 1.000 1 2010 2010
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: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 161 0.300 None 1.000 1 2011 2011
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: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
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
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: 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: 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