Spastic paraplegia 15, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
46
|
0.950 |
None |
1.000 |
17 |
46
|
2007 |
2016 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.390 |
None |
1.000 |
11 |
1
|
2007 |
2019 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.080 |
None |
1.000 |
8 |
|
2001 |
2013 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.180 |
None |
1.000 |
8 |
|
2009 |
2019 |
LEBER CONGENITAL AMAUROSIS 13
|
disease |
Eye Diseases
|
Disease or Syndrome
|
2
|
20
|
0.100 |
None |
1.000 |
6 |
4
|
2005 |
2015 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.110 |
None |
1.000 |
5 |
10
|
1981 |
2016 |
TARSAL-CARPAL COALITION SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
261
|
13
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.120 |
None |
1.000 |
2 |
|
2007 |
2009 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
2 |
2
|
2013 |
2015 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2009 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.320 |
None |
1.000 |
2 |
1
|
2011 |
2011 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.020 |
None |
1.000 |
2 |
1
|
2011 |
2011 |
Autosomal Recessive Hereditary Spastic Paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2019 |
Complicated hereditary spastic paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Amyotrophic Lateral Sclerosis, Sporadic
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
173
|
90
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Cognitive deterioration
|
disease |
|
Mental or Behavioral Dysfunction
|
39
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
164
|
139
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
1.000 |
1 |
1
|
2004 |
2004 |
Disorder of macula of retina
|
group |
Eye Diseases
|
Disease or Syndrome
|
49
|
24
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Spastic paraplegia 11, autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
134
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
disease |
|
Disease or Syndrome
|
27
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Distal amyotrophy
|
disease |
|
Disease or Syndrome
|
106
|
7
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
31
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |