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: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
disease Nervous System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 3 2 2002 2018
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 1 0.310 None 1.000 2 2017 2017
CUI: C1858042
Disease: Becker Nevus Syndrome
Becker Nevus Syndrome
disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.310 None 1.000 2 2017 2017
CUI: C0003516
Disease: Aortopulmonary Septal Defect
Aortopulmonary Septal Defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 2017 2017
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 48 0.050 None 1.000 5 1999 2018
CUI: C3711377
Disease: Intranuclear Rod Myopathy
Intranuclear Rod Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.030 None 1.000 3 2003 2004
CUI: C0266833
Disease: Visceral Myopathy, Familial
Visceral Myopathy, Familial
disease Digestive System Diseases Disease or Syndrome 2 1 0.020 None 1.000 2 2012 2014
CUI: C0011992
Disease: Infantile Diarrhea
Infantile Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None < 0.001 1 1993 1993
CUI: C1290162
Disease: Disorder of smooth muscle
Disorder of smooth muscle
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C1527298
Disease: Dysentery, Bacillary
Dysentery, Bacillary
disease Digestive System Diseases; Infections Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C1837819
Disease: Cerebrofrontofacial Syndrome
Cerebrofrontofacial Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 21 0.010 None 1.000 1 2009 2009
CUI: C3839205
Disease: Signet-ring stromal tumor
Signet-ring stromal tumor
disease Neoplastic Process 2 0.010 None 1.000 1 2020 2020
CUI: C4477072
Disease: Iris flocculi
Iris flocculi
phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2015 2015
CUI: C1846339
Disease: Externally rotated hips
Externally rotated hips
phenotype Finding 2 0.100 None 0
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 1 0.360 strong 1.000 7 1 2012 2017
CUI: C0014040
Disease: Encephalitis Lethargica
Encephalitis Lethargica
disease Infections; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C0270992
Disease: Secondary myopathy
Secondary myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2004 2004
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 30 0.720 None 1.000 9 29 1989 2018
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 4 4 0.040 None 1.000 4 1990 2004
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.020 None 1.000 2 2007 2015
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
disease Disease or Syndrome 4 1 0.020 None 1.000 2 2012 2018
CUI: C0154254
Disease: Polyclonal hypergammaglobulinemia
Polyclonal hypergammaglobulinemia
phenotype Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 24 0.010 None 1.000 1 2009 2009
Nemaline Myopathy, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 2 0.010 None < 0.001 1 2002 2002