Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Disorder of the optic nerve
|
group |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of mitochondrial complex I
|
phenotype |
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dysautonomia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2017 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2017 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
2 |
|
2004 |
2010 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2017 |
Alzheimer disease, familial, type 3
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
213
|
124
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Encephalomyelitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
865
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Lactate Dehydrogenase B Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
|
disease |
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cerebral Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
687
|
123
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |