Solute carrier family 35 member A2 congenital disorder of glycosylation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
12
|
0.730 |
None |
1.000 |
6 |
12
|
2013 |
2019 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.390 |
strong |
1.000 |
9 |
|
2013 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.340 |
strong |
1.000 |
5 |
1
|
2010 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.330 |
None |
1.000 |
3 |
|
2008 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.310 |
strong |
1.000 |
3 |
|
2013 |
2016 |
Epileptic encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
187
|
126
|
0.140 |
None |
1.000 |
4 |
1
|
2013 |
2019 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2019 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.110 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
2 |
1
|
2019 |
2019 |
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gilbert Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
29
|
0.100 |
None |
1.000 |
13 |
|
1999 |
2019 |
Hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
131
|
27
|
0.100 |
None |
1.000 |
12 |
|
1998 |
2017 |
Crigler Najjar syndrome, type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
17
|
38
|
0.100 |
None |
1.000 |
11 |
|
1993 |
2010 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
9 |
1
|
1996 |
2016 |
Decreased peristalsis
|
phenotype |
|
Finding
|
6
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Sleep Apnea, Obstructive
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
480
|
105
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Retinal pigment epithelial mottling
|
phenotype |
|
Finding
|
16
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Low posterior hairline
|
phenotype |
|
Finding
|
86
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Cerebral white matter atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
20
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Pyloric Stenosis
|
phenotype |
Digestive System Diseases
|
Pathologic Function
|
121
|
4
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Sleep disturbances
|
phenotype |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
311
|
74
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
MCV - raised
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Premature adrenarche
|
disease |
|
Disease or Syndrome
|
18
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |