Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2011 |
Congenital hernia of foramen of Morgagni
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
19
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2011 |
Congenital hernia of foramen of Bochdalek
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
21
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2011 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.240 |
None |
0.800 |
5 |
|
1992 |
2019 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.320 |
None |
1.000 |
3 |
|
2004 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2015 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.320 |
None |
1.000 |
3 |
|
2009 |
2016 |
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Beckwith-Wiedemann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
107
|
84
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2015 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.020 |
None |
1.000 |
2 |
2
|
1997 |
2019 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2011 |
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1998 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Turcot syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
77
|
75
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2000 |
Metabolic Syndrome X
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1125
|
591
|
0.020 |
None |
1.000 |
2 |
1
|
2015 |
2019 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.110 |
None |
1.000 |
2 |
1
|
2018 |
2018 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.200 |
None |
1.000 |
1 |
|
2008 |
2008 |
Arterial Occlusive Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
4
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |