ATP synthase deficiency
|
disease |
|
Disease or Syndrome
|
3
|
|
0.080 |
None |
1.000 |
8 |
|
2008 |
2019 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.330 |
strong |
1.000 |
4 |
|
2010 |
2016 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.320 |
None |
1.000 |
3 |
|
2008 |
2020 |
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 |
Myocardial Diseases, Secondary
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
101
|
|
0.310 |
None |
0.500 |
2 |
|
2008 |
2020 |
Tumor Promotion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
170
|
2
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
3-Methylglutaconic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
20
|
1
|
0.120 |
None |
1.000 |
2 |
|
2011 |
2014 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2014 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
moderate |
1.000 |
1 |
|
2014 |
2014 |
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 |
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 |
Hepatocellular Adenoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
114
|
7
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.110 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Mitochondrial Encephalomyopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
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 |
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 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hepatocarcinogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
855
|
24
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiomyopathy associated with another disorder
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
< 0.001 |
1 |
|
2020 |
2020 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cardiomyopathies, Primary
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
108
|
1
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |