Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
strong |
1.000 |
2 |
|
2015 |
2017 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Disorder of the optic nerve
|
group |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
112
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Prion Diseases
|
group |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
175
|
67
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
strong |
1.000 |
2 |
|
2015 |
2017 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
1
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.100 |
None |
|
0 |
2
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Leukoaraiosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
72
|
24
|
0.100 |
None |
|
0 |
2
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
7 |
3
|
1996 |
2017 |