Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.500 |
None |
0.947 |
75 |
19
|
2009 |
2019 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.040 |
None |
0.500 |
4 |
|
2011 |
2016 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2013 |
Long QT Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
105
|
349
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Familial Alzheimer Disease (FAD)
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
260
|
95
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2011 |
Alzheimer Disease, Early Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
174
|
96
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2011 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebrovascular Disorders
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
56
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Progressive supranuclear palsy
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
176
|
52
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Gestational Diabetes
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
649
|
224
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Familial lichen amyloidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
230
|
24
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Essential Tremor
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
122
|
79
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Impaired glucose tolerance
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
596
|
81
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Paroxysmal familial ventricular fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
5
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
121
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Alzheimer disease, familial, type 3
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
213
|
124
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
32
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |