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: C0012569
Disease: Diplopia
Diplopia 		75 0 14 0.11 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 18 0.11 3 4.7E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 17 0.11 3 0.14
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		75 0 13 0.11 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 11 0.10 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 12 9.8E-02 0 0
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 7 9.7E-02 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 0 7 9.7E-02 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 14 9.7E-02 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 9 9.7E-02 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 10 9.5E-02 1 6.7E-02
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate 		43 0 9 9.5E-02 0 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		70 0 11 9.2E-02 0 0
CUI: C2830004
Disease: Somnolence
Somnolence 		87 0 12 8.8E-02 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 13 8.7E-02 0 0
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		41 0 8 8.5E-02 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 6 8.1E-02 0 0
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage 		7 0 5 7.9E-02 0 0
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		89 0 11 7.9E-02 0 0
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		76 0 10 7.9E-02 0 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		163 0 16 7.7E-02 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 13 7.7E-02 0 0
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter 		10 0 5 7.6E-02 0 0
CUI: C0019079
Disease: Hemoptysis
Hemoptysis 		67 0 9 7.6E-02 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 17 7.5E-02 0 0