COG5 congenital disorder of glycosylation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
4 |
5
|
2009 |
2017 |
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.400 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Persistent atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
familial atrial fibrillation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
157
|
1
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Paroxysmal atrial fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
226
|
8
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Enterovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
237
|
12
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.120 |
None |
1.000 |
2 |
1
|
2010 |
2012 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Autistic behavior
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
261
|
78
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Duration of sleep
|
phenotype |
|
Finding
|
104
|
203
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Cerebral white matter atrophy
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
20
|
11
|
0.100 |
None |
|
0 |
|
|
|
Delayed myelination
|
phenotype |
Mental Disorders
|
Finding
|
112
|
6
|
0.100 |
None |
|
0 |
|
|
|
Gastrostomy tube feeding in infancy
|
phenotype |
|
Finding
|
38
|
19
|
0.100 |
None |
|
0 |
|
|
|
Atrophy/Degeneration affecting the brainstem
|
disease |
|
Disease or Syndrome
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the frontal hairline
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse cerebral atrophy
|
phenotype |
Nervous System Diseases; Mental Disorders
|
Finding
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Knee joint valgus deformity
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
117
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cortical visual impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Pathologic Function
|
136
|
27
|
0.100 |
None |
|
0 |
|
|
|