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: 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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.600 definitive 1.000 14 8 2000 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.040 None 1.000 4 2009 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2019
CUI: C4477072
Disease: Iris flocculi
Iris flocculi 		phenotype Anatomical Abnormality 2 0.020 None 1.000 2 2015 2019
CUI: C0741621
Disease: Brachial artery occlusion
Brachial artery occlusion 		disease Disease or Syndrome 1 0.010 None 1.000 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: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None 1.000 1 2012 2012
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.010 None 1.000 1 2018 2018
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: C0232474
Disease: Increased peristalsis
Increased peristalsis 		phenotype Finding 1 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0
CUI: C0281967
Disease: Retinal infarction
Retinal infarction 		disease Disease or Syndrome 1 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C1851712
Disease: Dural ectasia
Dural ectasia 		phenotype Finding 16 1 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: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		phenotype Finding 2 3 0.100 None 0 1
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		disease Disease or Syndrome 10 0.100 None 0
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		disease Disease or Syndrome 124 5 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: C4293686
Disease: Periventricular white matter hyperdensities
Periventricular white matter hyperdensities 		phenotype Pathologic Function 4 1 0.100 None 0