ACTN3 DEFICIENCY
|
disease |
|
Disease or Syndrome
|
4
|
1
|
0.200 |
None |
0.909 |
11 |
1
|
2001 |
2019 |
Muscle damage
|
phenotype |
|
Acquired Abnormality
|
163
|
4
|
0.100 |
None |
1.000 |
10 |
1
|
2005 |
2019 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Fatigability
|
phenotype |
|
Sign or Symptom
|
29
|
4
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Coronary Microvascular Disease
|
disease |
|
Disease or Syndrome
|
45
|
3
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
SPRINTING PERFORMANCE
|
phenotype |
|
Organism Attribute
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Chronic heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
223
|
11
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Sickle Cell Trait
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
75
|
16
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
CAMPOMELIC DYSPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
68
|
20
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Glycogen Storage Disease Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
22
|
76
|
0.030 |
None |
1.000 |
3 |
2
|
2007 |
2018 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.010 |
None |
< 0.001 |
1 |
1
|
2016 |
2016 |
Idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
46
|
17
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.020 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Myositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
254
|
43
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Polymyositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
183
|
22
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Idiopathic Inflammatory Myopathies
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
106
|
4
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |