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: C0030552
Disease: Paresis
Paresis 		216 49 208 0.38 46 0.51
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 211 0.22 17 7.2E-02
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 12 126 0.18 3 3.1E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 113 0.17 3 2.4E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 163 0.17 8 5.9E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 162 0.17 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 120 0.16 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 207 0.16 4 6.0E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 122 0.15 7 5.4E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 182 0.15 1 6.5E-03
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 94 0.15 6 6.2E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 130 0.15 4 2.9E-02
CUI: C0015672
Disease: Fatigue
Fatigue 		760 67 162 0.14 4 2.7E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 112 0.14 2 1.7E-02
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 89 0.13 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 100 0.13 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		925 294 170 0.13 4 1.1E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 0 82 0.13 0 0
CUI: C0231528
Disease: Myalgia
Myalgia 		226 22 88 0.13 3 2.8E-02
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 23 98 0.13 4 3.8E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 151 0.13 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 96 0.13 3 2.8E-02
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 2 105 0.13 1 1.1E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 84 0.12 5 4.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 164 0.12 7 2.9E-02