MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
2 |
3
|
2012 |
2016 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Organic aciduria
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Increased serum pyruvate
|
phenotype |
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Drug abuse
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
405
|
39
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Drug habituation
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
196
|
19
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Drug Use Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
121
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Organic Mental Disorders, Substance-Induced
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
115
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Substance Dependence
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
156
|
19
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Substance Use Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
218
|
16
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Substance-Related Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
128
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Substance abuse problem
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
185
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Drug Dependence
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
248
|
31
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Prescription Drug Abuse
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Finding
|
115
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
PATENT DUCTUS ARTERIOSUS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
229
|
12
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
MYOTONIC DYSTROPHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
179
|
14
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hamartoma Syndrome, Multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
270
|
139
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Familial lichen amyloidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
230
|
24
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Biliary Tract Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
167
|
11
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |