CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
6 |
3
|
1996 |
2017 |
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 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
strong |
1.000 |
2 |
|
2015 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.400 |
strong |
1.000 |
2 |
1
|
2015 |
2017 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
HIV-1 infection
|
disease |
|
Disease or Syndrome
|
695
|
94
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
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 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.120 |
None |
1.000 |
2 |
2
|
2017 |
2018 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
235
|
34
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adult type dermatomyositis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
218
|
31
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Polymyositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
183
|
22
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |