Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Oral cleft
|
disease |
|
Congenital Abnormality
|
85
|
28
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Carcinoma, Lewis Lung
|
disease |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
188
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Synovial Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
198
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Small cell osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adult Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2528
|
98
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adult Synovial Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
198
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Zika Virus Infection
|
disease |
Infections
|
Disease or Syndrome
|
192
|
1
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pituitary-dependent Cushing's disease
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
115
|
8
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Muscular Dystrophy, Oculopharyngeal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
33
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Muscle degeneration
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
70
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sclerosing rhabdomyosarcoma
|
disease |
|
Neoplastic Process
|
9
|
|
0.010 |
None |
< 0.001 |
1 |
|
2005 |
2005 |
Round cell sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
20
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Osteosarcoma of bone
|
disease |
Neoplasms
|
Neoplastic Process
|
2247
|
151
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Failure to thrive in infant
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
81
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Skeletal malocclusion
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |