Sporadic Parkinson disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
179
|
65
|
0.090 |
None |
0.889 |
9 |
1
|
2010 |
2019 |
GAUCHER DISEASE, PERINATAL LETHAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
18
|
0.700 |
strong |
1.000 |
8 |
18
|
1984 |
2016 |
Gaucher Disease, Type Iiic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
19
|
0.700 |
strong |
1.000 |
6 |
19
|
1984 |
2016 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2017 |
Lafora Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
92
|
32
|
0.040 |
None |
1.000 |
4 |
1
|
2012 |
2019 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.130 |
None |
1.000 |
3 |
5
|
2004 |
2017 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.130 |
None |
1.000 |
3 |
4
|
2004 |
2017 |
Enterovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
237
|
12
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Niemann-Pick Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
23
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2017 |
Other sphingolipidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
|
0.200 |
None |
1.000 |
2 |
|
1992 |
2006 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
1
|
2013 |
2014 |
Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.110 |
None |
1.000 |
1 |
|
2000 |
2000 |
Bone Diseases
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
317
|
10
|
0.010 |
None |
1.000 |
1 |
3
|
2018 |
2018 |
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intracranial Aneurysm
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
311
|
150
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
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 |
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 |
1
|
2014 |
2014 |
DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Endometriosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1188
|
274
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
71
|
9
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
80
|
11
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Male infertility
|
phenotype |
Male Urogenital Diseases
|
Disease or Syndrome
|
516
|
146
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |