MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
|
disease |
|
Mental or Behavioral Dysfunction
|
1
|
1
|
0.700 |
strong |
1.000 |
1 |
1
|
2013 |
2013 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.470 |
None |
0.857 |
7 |
2
|
2008 |
2013 |
Paroxysmal familial ventricular fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
5
|
0.360 |
None |
1.000 |
6 |
|
2009 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.350 |
None |
1.000 |
5 |
1
|
2008 |
2016 |
Ventricular Fibrillation, Paroxysmal Familial, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
42
|
8
|
0.330 |
None |
1.000 |
4 |
|
2009 |
2018 |
Microcephaly autosomal dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.310 |
None |
1.000 |
1 |
|
2013 |
2013 |
VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
2
|
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2011 |
Amyotrophic Lateral Sclerosis With Dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Primary microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
39
|
9
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Amyotrophic Lateral Sclerosis, Guam Form
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.110 |
None |
1.000 |
2 |
6
|
2012 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ventricular Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
96
|
19
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Lean body mass
|
phenotype |
|
Clinical Attribute
|
144
|
211
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Pelvic Organ Prolapse
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
119
|
49
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Forced expiratory volume function
|
phenotype |
|
Organ or Tissue Function
|
272
|
1169
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Narcolepsy
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
308
|
454
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Chorioretinal degeneration
|
disease |
Eye Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|