Absent muscle fiber emerin
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
82
|
136
|
0.200 |
None |
1.000 |
13 |
1
|
2008 |
2019 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
2
|
0.700 |
None |
1.000 |
6 |
2
|
2008 |
2017 |
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.100 |
None |
|
0 |
|
|
|
Atrioventricular Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
63
|
17
|
0.100 |
None |
|
0 |
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
74
|
0.500 |
None |
1.000 |
1 |
|
2011 |
2011 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
|
0 |
|
|
|
Back Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
110
|
10
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|
Bradycardia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
63
|
2
|
0.100 |
None |
|
0 |
|
|
|
Brain Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1018
|
204
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.420 |
None |
1.000 |
2 |
2
|
2013 |
2019 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Chest Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
154
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
|
|
|
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.100 |
None |
|
0 |
|
|
|
Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.100 |
None |
|
0 |
|
|
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
3 |
2
|
2011 |
2017 |
EMG: myopathic abnormalities
|
phenotype |
Musculoskeletal Diseases; Nervous System Diseases
|
Pathologic Function
|
115
|
16
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture - elbow
|
disease |
|
Acquired Abnormality
|
73
|
14
|
0.100 |
None |
|
0 |
|
|
|