Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
82
|
5
|
0.100 |
None |
|
0 |
|
|
|
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Reduced ejection fraction
|
phenotype |
|
Finding
|
18
|
30
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Pyruvate Carboxylase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
33
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Melanoma, B16
|
disease |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
157
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Ketonuria
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
|
|
|
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyper-beta-alaninemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
heart rate
|
phenotype |
|
Clinical Attribute
|
36
|
103
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Enterovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
237
|
12
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |