LEBER CONGENITAL AMAUROSIS 16
|
disease |
|
Disease or Syndrome
|
2
|
5
|
0.720 |
None |
1.000 |
3 |
5
|
2011 |
2019 |
Vitreoretinal degeneration
|
disease |
|
Disease or Syndrome
|
20
|
6
|
0.110 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Cardioembolic stroke
|
disease |
|
Disease or Syndrome
|
42
|
28
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Vascular cognitive impairment
|
disease |
|
Disease or Syndrome
|
42
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the cerebellar vermis
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the optic disc
|
phenotype |
|
Finding
|
26
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal dots
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.120 |
None |
1.000 |
3 |
1
|
2011 |
2018 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.020 |
None |
0.500 |
2 |
|
2011 |
2019 |
AURAL ATRESIA, CONGENITAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
110
|
29
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Meconium Aspiration Syndrome
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases
|
Disease or Syndrome
|
38
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Distress Syndrome, Newborn
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Disease or Syndrome
|
177
|
37
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Snowflake vitreoretinal degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
15
|
1
|
0.780 |
None |
1.000 |
8 |
1
|
2008 |
2019 |
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.650 |
strong |
1.000 |
7 |
1
|
2011 |
2019 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.040 |
None |
1.000 |
4 |
|
2015 |
2019 |