Poor fine motor coordination
|
phenotype |
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Copper accumulation in liver
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Astrocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal transferrin saturation
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.100 |
None |
|
0 |
|
|
|
Abnormal basal ganglia MRI signal intensity
|
phenotype |
|
Anatomical Abnormality
|
7
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal globus pallidus morphology
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Abnormal myelination
|
phenotype |
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Postural instability
|
phenotype |
Nervous System Diseases
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Esophageal Varices
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
56
|
5
|
0.100 |
None |
|
0 |
|
|
|
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.100 |
None |
|
0 |
|
|
|
Impaired insulin secretion
|
disease |
|
Disease or Syndrome
|
88
|
14
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hyperinsulinism
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
620
|
64
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Latent autoimmune diabetes mellitus in adult
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
49
|
12
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dystonia, Paroxysmal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
28
|
4
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dystonia, Diurnal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dystonia, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
9
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Erythrocytosis
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
9
|
1
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dystonia, Primary
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |