ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.040 None 1.000 4 2015 2018
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.040 None 1.000 4 2004 2020
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.040 None 1.000 4 2012 2019
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.130 None 1.000 3 2010 2012
CUI: C0015826
Disease: Fenestration (morphologic abnormality)
Fenestration (morphologic abnormality) 		disease Acquired Abnormality 43 0.020 None 1.000 2 2017 2019
CUI: C0205204
Disease: Scab
Scab 		disease Acquired Abnormality 24 0.020 None 1.000 2 2008 2013
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.020 None 1.000 2 1998 2012
CUI: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2018 2018
CUI: C0156181
Disease: Peritoneal adhesion
Peritoneal adhesion 		disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 32 0.010 None 1.000 1 2012 2012
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2018 2018
CUI: C0333293
Disease: Healing ulcer
Healing ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1 0.010 None 1.000 1 2017 2017
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 1998 1998
CUI: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2018 2018
CUI: C0521175
Disease: Neuropil Threads
Neuropil Threads 		disease Acquired Abnormality 13 0.010 None 1.000 1 2009 2009
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 2013 2013
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2018 2018
CUI: C1519666
Disease: Tumor-Associated Vasculature
Tumor-Associated Vasculature 		disease Acquired Abnormality 84 0.010 None 1.000 1 2018 2018
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.010 None 1.000 1 2002 2002
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.040 None 1.000 4 2012 2018
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.030 None 1.000 3 2009 2019
CUI: C3544347
Disease: Intestinal fibrosis
Intestinal fibrosis 		phenotype Anatomical Abnormality 65 0.020 None 1.000 2 2017 2019
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		disease Musculoskeletal Diseases Anatomical Abnormality 36 0.010 None 1.000 1 2017 2017
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.010 None 1.000 1 2010 2010
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.010 None 1.000 1 2002 2002