Stargardt's disease
|
phenotype |
|
Disease or Syndrome
|
45
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
IMMUNE SUPPRESSION
|
phenotype |
|
Disease or Syndrome
|
222
|
3
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Arrhythmogenic Right Ventricular Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
82
|
136
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.060 |
None |
0.833 |
6 |
|
1993 |
2017 |
Choroideremia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
41
|
15
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
125
|
0.090 |
None |
1.000 |
9 |
|
2002 |
2017 |
Hemophilia A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
143
|
295
|
0.060 |
None |
1.000 |
6 |
|
2005 |
2019 |
Hemophilia, NOS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
82
|
8
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2019 |
X-Linked Combined Immunodeficiency Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
38
|
42
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Granulomatous Disease, Chronic, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
75
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2015 |
Chronic granulomatous disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
105
|
23
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Alpha-Sarcoglycanopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
9
|
58
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
GIANT AXONAL NEUROPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
20
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Glycogen storage disease type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
45
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Primary hyperoxaluria, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
27
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |