Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.100 |
None |
0.979 |
143 |
|
1973 |
2019 |
Gaucher Disease, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
124
|
0.100 |
None |
0.882 |
17 |
|
1983 |
2019 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.100 |
None |
0.909 |
11 |
|
1983 |
2014 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.010 |
None |
1.000 |
1 |
|
1984 |
1984 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.010 |
None |
1.000 |
1 |
|
1984 |
1984 |
Gaucher Disease, Type 3 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
26
|
0.050 |
None |
1.000 |
5 |
|
1988 |
2017 |
CNS metastases
|
phenotype |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
102
|
14
|
0.010 |
None |
< 0.001 |
1 |
|
1994 |
1994 |
Gaucher Disease, Type 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
34
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2008 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2017 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2013 |
Dermatologic disorders
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
617
|
21
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.100 |
None |
1.000 |
26 |
1
|
2005 |
2019 |
Ichthyosis linearis circumflexa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
64
|
20
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Lewy Body Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
255
|
41
|
0.060 |
None |
1.000 |
6 |
|
2011 |
2019 |
Blood urea nitrogen measurement
|
phenotype |
|
Laboratory Procedure
|
90
|
174
|
0.100 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
Sporadic Parkinson disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
179
|
65
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
0.500 |
2 |
|
2014 |
2018 |
Motor symptoms
|
phenotype |
|
Sign or Symptom
|
100
|
15
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |