ASPARAGINE SYNTHETASE DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
13
|
0.730 |
definitive |
1.000 |
19 |
13
|
1968 |
2019 |
Malignant neoplasm of liver
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1649
|
88
|
0.510 |
None |
1.000 |
3 |
|
1976 |
2019 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.500 |
None |
1.000 |
2 |
|
1976 |
2017 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lipoidosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.220 |
None |
1.000 |
3 |
1
|
1976 |
2017 |
Hepatoblastoma Caused By Somatic Mutation
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
106
|
|
0.200 |
None |
1.000 |
1 |
|
1976 |
1976 |
Hepatoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
452
|
22
|
0.200 |
None |
1.000 |
1 |
|
1976 |
1976 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Childhood Acute Lymphoblastic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1096
|
261
|
0.100 |
None |
0.786 |
14 |
|
2003 |
2018 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Cortical gyral simplification
|
phenotype |
|
Finding
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hypsarrhythmia
|
phenotype |
Nervous System Diseases
|
Finding
|
152
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Long foot
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Large hand
|
phenotype |
|
Finding
|
35
|
7
|
0.100 |
None |
|
0 |
|
|
|
Progressive microcephaly
|
phenotype |
|
Finding
|
67
|
4
|
0.100 |
None |
|
0 |
|
|
|