CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.700 |
limited |
1.000 |
1 |
2
|
2015 |
2015 |
Decreased serum ceruloplasmin
|
phenotype |
|
Finding
|
12
|
5
|
0.100 |
None |
|
0 |
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Diffuse cerebral atrophy
|
phenotype |
Nervous System Diseases; Mental Disorders
|
Finding
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Generalized tonic seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Postnatal microcephaly
|
phenotype |
|
Finding
|
62
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Small pituitary gland
|
disease |
|
Anatomical Abnormality
|
7
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal glycosylation
|
phenotype |
|
Finding
|
6
|
|
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 |
|
|
|
Dyslipidemias
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
471
|
184
|
0.040 |
None |
0.750 |
4 |
|
2017 |
2018 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2020 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Hypertriglyceridemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
340
|
169
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.010 |
None |
< 0.001 |
1 |
|
2016 |
2016 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypercholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
489
|
123
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hypercholesterolemia, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
203
|
1423
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hyperlipoproteinemia Type IIa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
201
|
661
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |