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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 377 8 0.100 None 0
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 16 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.100 None 0 1
CUI: C0008031
Disease: Chest Pain
Chest Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 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: C4022878
Disease: Descending aortic dissection
Descending aortic dissection 		disease Cardiovascular Diseases Disease or Syndrome 15 0.100 None 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		disease Disease or Syndrome 10 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 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
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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C1851712
Disease: Dural ectasia
Dural ectasia 		phenotype Finding 16 1 0.100 None 0
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		phenotype Finding 2 3 0.100 None 0 1