Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
PATENT DUCTUS ARTERIOSUS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
229
|
12
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Meningomyelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
89
|
27
|
0.100 |
None |
|
0 |
2
|
|
|
Spina Bifida Occulta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
76
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Myelocele
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2018 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.130 |
None |
1.000 |
4 |
1
|
2009 |
2019 |
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
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2014 |
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 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
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 |
Hyperostosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
50
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malaria
|
disease |
Infections
|
Disease or Syndrome
|
685
|
148
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Septicemia
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1285
|
141
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chronic nasopharyngitis
|
disease |
Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hereditary pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
158
|
108
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Leukocyte adhesion deficiency type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
114
|
26
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Venous Thromboembolism
|
phenotype |
Cardiovascular Diseases
|
Disease or Syndrome
|
378
|
408
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Allergic rhinitis (disorder)
|
disease |
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
446
|
176
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |