Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0410158
Disease: Muscle damage
Muscle damage 		163 0 34 8.3E-02 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 25 8.1E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 25 7.9E-02 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 24 7.8E-02 2 2.8E-02
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 29 7.5E-02 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 32 7.4E-02 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 28 7.4E-02 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 21 7.3E-02 0 0
CUI: C0027121
Disease: Myositis
Myositis 		254 0 36 7.2E-02 0 0
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		233 90 34 7.1E-02 1 6.4E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 39 7.1E-02 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 24 7.0E-02 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 33 7.0E-02 6 6.6E-02
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 29 7.0E-02 0 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 0 39 7.0E-02 0 0
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 		45 0 21 6.9E-02 0 0
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		45 0 21 6.9E-02 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 18 20 6.9E-02 4 4.9E-02
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 19 6.8E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 31 6.8E-02 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 25 6.7E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 41 6.6E-02 0 0
CUI: C0009917
Disease: Contracture
Contracture 		111 0 24 6.5E-02 0 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		226 0 31 6.5E-02 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		537 45 50 6.5E-02 1 9.0E-03