Decreased pyruvate carboxylase activity
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Depressive Symptoms
|
phenotype |
Behavior and Behavior Mechanisms
|
Sign or Symptom
|
421
|
120
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.200 |
None |
0.938 |
16 |
|
1988 |
2019 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.170 |
None |
0.857 |
7 |
|
1996 |
2019 |
Cardiac Arrest
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
411
|
50
|
0.060 |
None |
1.000 |
6 |
|
2000 |
2020 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.050 |
None |
0.800 |
5 |
|
2001 |
2019 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2016 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2016 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2020 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2020 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Cardiomyopathy, Hypertrophic, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
355
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2002 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypoplastic Left Heart Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
52
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
HYPOPLASTIC LEFT HEART SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
12
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
146
|
349
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2003 |
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 |
|
1979 |
1979 |
Thalassemia
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
136
|
18
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2020 |
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
198
|
103
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
beta^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
156
|
44
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
X-linked sideroblastic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
16
|
23
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |