MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
moderate |
1.000 |
2 |
1
|
2013 |
2013 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
moderate |
1.000 |
2 |
1
|
2013 |
2013 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
63
|
2
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
|
phenotype |
|
Finding
|
63
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
|
phenotype |
|
Finding
|
63
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Behavioral and psychological symptoms of dementia
|
phenotype |
|
Sign or Symptom
|
72
|
9
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Heart failure with preserved ejection fraction [HFpEF]
|
disease |
|
Disease or Syndrome
|
89
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Isolated ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.010 |
None |
1.000 |
1 |
|
1988 |
1988 |
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
High pitched cry
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Heart failure with normal ejection fraction
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.100 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2013 |