Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Childhood Desmoplastic Small Round Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
32
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Diphtheria
|
disease |
Infections
|
Disease or Syndrome
|
147
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Adult Desmoplastic Small Round Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
32
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Fusion-Negative Alveolar Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Myomatous neoplasm
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
25
|
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Muscular Atrophy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Pathologic Function
|
49
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Sarcopenia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
164
|
10
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Disseminated Malignant Neoplasm
|
phenotype |
Neoplasms
|
Neoplastic Process
|
232
|
4
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Malignant transformation
|
phenotype |
|
Neoplastic Process
|
1027
|
20
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Endometrial adenocarcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
212
|
5
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Atrophic
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
58
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Congenital fusion of ribs
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
37
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hyperplasia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
131
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Insulin Resistance
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
162
|
53
|
0.200 |
None |
1.000 |
1 |
|
2006 |
2006 |
Malignant Childhood Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
179
|
34
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2007 |
Acute Myeloid Leukemia, M1
|
disease |
Neoplasms
|
Neoplastic Process
|
138
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Skeletal Muscle Neoplasm
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Acute Myeloid Leukemia (AML-M2)
|
disease |
Neoplasms
|
Neoplastic Process
|
143
|
5
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Brain Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1018
|
204
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypertriglyceridemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
340
|
169
|
0.030 |
None |
1.000 |
3 |
|
2004 |
2008 |
Endometrial Neoplasms
|
group |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
261
|
32
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2008 |