PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
disease |
|
Disease or Syndrome
|
33
|
1
|
0.020 |
None |
1.000 |
2 |
|
1995 |
1999 |
Autosomal dominant cerebellar ataxia
|
disease |
|
Disease or Syndrome
|
31
|
2
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2015 |
Psychiatric symptom
|
phenotype |
|
Sign or Symptom
|
95
|
12
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Extrapyramidal sign
|
phenotype |
|
Sign or Symptom
|
40
|
5
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
820
|
101
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
229
|
17
|
0.020 |
None |
1.000 |
2 |
|
1989 |
1999 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1432
|
769
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1973
|
871
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Aortic Aneurysm, Abdominal
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
566
|
78
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Arteriolosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
12
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
746
|
200
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
AURAL ATRESIA, CONGENITAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
110
|
27
|
0.660 |
limited |
1.000 |
6 |
|
1989 |
2014 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1091
|
73
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
148
|
53
|
0.010 |
None |
< 0.001 |
1 |
|
2012 |
2012 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
137
|
53
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
70
|
30
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Activated Protein C Resistance
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
40
|
23
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Gerstmann-Straussler-Scheinker Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
Disease or Syndrome
|
56
|
34
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2010 |
Vertical Talus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
29
|
15
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
SPINOCEREBELLAR ATAXIA 17
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
25
|
|
0.060 |
None |
1.000 |
6 |
|
2004 |
2010 |
Spinocerebellar Ataxia Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
47
|
3
|
0.050 |
None |
1.000 |
5 |
|
1996 |
2010 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
133
|
10
|
0.010 |
None |
< 0.001 |
1 |
|
2005 |
2005 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
945
|
69
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2019 |
Familial Cerebral Amyloid Angiopathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |