Spastic paraplegia 10, autosomal dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
10
|
0.760 |
strong |
1.000 |
14 |
10
|
2002 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
|
phenotype |
|
Finding
|
1
|
8
|
0.600 |
None |
1.000 |
3 |
8
|
2018 |
2018 |
MYOCLONUS, INTRACTABLE, NEONATAL
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
strong |
1.000 |
2 |
2
|
2017 |
2018 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.500 |
moderate |
0.944 |
18 |
4
|
2002 |
2018 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.410 |
None |
1.000 |
4 |
1
|
2008 |
2014 |
Inherited neuropathies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
104
|
4
|
0.310 |
strong |
1.000 |
1 |
|
2019 |
2019 |
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 |
1 |
|
2017 |
2017 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.190 |
None |
1.000 |
12 |
6
|
2001 |
2018 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.140 |
None |
1.000 |
5 |
1
|
2016 |
2019 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.130 |
None |
1.000 |
4 |
1
|
2010 |
2015 |
Myoclonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
265
|
34
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2018 |
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.100 |
None |
0.941 |
17 |
1
|
2004 |
2018 |
Immune System Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
451
|
116
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Urinary bladder sphincter dysfunction
|
phenotype |
|
Finding
|
28
|
1
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.100 |
None |
|
0 |
|
|
|
Progressive pes cavus
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Spastic gait
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
62
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Urgency of micturition
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Sign or Symptom
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Varicosity
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
188
|
51
|
0.100 |
None |
|
0 |
|
|
|
Moderate intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
251
|
94
|
0.100 |
None |
|
0 |
|
|
|