Immune dysfunction with T-cell inactivation due to calcium entry defect 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
2
|
5
|
0.700 |
strong |
1.000 |
3 |
5
|
2005 |
2009 |
Tubular Aggregate Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
67
|
5
|
0.600 |
None |
1.000 |
10 |
1
|
2014 |
2020 |
MYOPATHY, TUBULAR AGGREGATE, 2
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
strong |
1.000 |
3 |
4
|
2014 |
2017 |
Stormorken Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
6
|
0.550 |
moderate |
1.000 |
5 |
1
|
2014 |
2019 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.330 |
None |
1.000 |
4 |
|
2010 |
2017 |
Combined immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
86
|
11
|
0.320 |
strong |
1.000 |
3 |
|
2009 |
2018 |
MYOPATHY, TUBULAR AGGREGATE, 1
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
8
|
0.310 |
strong |
< 0.001 |
1 |
|
2018 |
2018 |
Congenital Structural Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
|
0 |
|
|
|
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.300 |
None |
|
0 |
|
|
|
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.300 |
None |
|
0 |
|
|
|
Autosomal Recessive Centronuclear Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Myopathy, Centronuclear, 1
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.300 |
None |
|
0 |
|
|
|
Autosomal Dominant Myotubular Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
|
0 |
|
|
|
X-linked centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
29
|
140
|
0.300 |
None |
|
0 |
|
|
|
Myopathy, Centronuclear, Autosomal Dominant
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
1
|
0.300 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.160 |
None |
1.000 |
6 |
|
2014 |
2019 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.130 |
None |
1.000 |
3 |
|
2006 |
2019 |
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
61
|
24
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2018 |
Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
71
|
16
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypocalcemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
94
|
13
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
1.000 |
12 |
|
2009 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.917 |
12 |
|
2011 |
2020 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
12 |
|
2009 |
2019 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |