ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
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: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 48 0.930 None 1.000 35 48 1988 2018
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.740 None 1.000 7 7 1999 2010
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL
disease Disease or Syndrome 1 2 0.700 limited 1.000 1 2 2015 2015
Myopathy, Actin, Congenital, With Cores
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2009 2011
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.600 strong 1.000 2 1 2009 2011
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.530 1.000 5 2001 2013
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 47 42 0.400 strong 0.976 42 5 1999 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.400 strong 1.000 2 2006 2013
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.310 None 1.000 1 2015 2015
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.300 None 1.000 1 1999 1999
Eichsfeld type congenital muscular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 24 0.300 None 1.000 1 2015 2015
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.300 None 0
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 0.300 None 0
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.300 None 0
Autosomal Recessive Centronuclear Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.300 None 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 0
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.300 None 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 0
Myopathy, Centronuclear, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.300 None 0
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.200 None 1.000 15 2004 2019
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 96 19 0.200 None 1.000 1 2006 2006
Nemaline Myopathy 3, With Intranuclear Rods
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.200 None 1.000 1 2011 2011
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.120 None 1.000 2 2015 2016
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.110 None 1.000 7 1 2003 2015