Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Penile hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
127
|
83
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cardiomyopathy associated with another disorder
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
< 0.001 |
1 |
|
2020 |
2020 |
Hepatocarcinogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
855
|
24
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
3-Methylglutaconic aciduria type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
22
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Tumor Progression
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Neoplastic Process
|
3865
|
72
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Carbamoyl Phosphate Synthase 1 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Tumor Promotion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
170
|
2
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
3-Methylglutaconic Aciduria Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2013 |
ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
3
|
|
0.080 |
None |
1.000 |
8 |
|
2008 |
2019 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.100 |
None |
1.000 |
3 |
1
|
2008 |
2014 |
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pulmonary valve
|
disease |
|
Finding
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of aortic valve
|
disease |
|
Anatomical Abnormality
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|