Abnormal myelination
|
phenotype |
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Alzheimer disease, familial, type 3
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
213
|
124
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Autosomal recessive spastic paraplegia type 70
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1658
|
591
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.120 |
None |
1.000 |
2 |
1
|
2016 |
2018 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.720 |
None |
1.000 |
4 |
2
|
2013 |
2018 |
Clubbed Fingers
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
88
|
1
|
0.100 |
None |
|
0 |
|
|
|
Clubbing
|
phenotype |
|
Sign or Symptom
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Coughing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
235
|
16
|
0.100 |
None |
|
0 |
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.040 |
None |
1.000 |
4 |
|
2013 |
2019 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.040 |
None |
1.000 |
4 |
|
2013 |
2019 |
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
222
|
26
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |