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: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		61 0 12 0.18 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 11 0.18 0 0
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		5 0 3 0.17 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 8 0.16 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 12 0.15 0 0
CUI: C0012569
Disease: Diplopia
Diplopia 		75 0 12 0.15 0 0
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		7 0 3 0.15 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 3 0.14 0 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 3 0.14 0 0
CUI: C2830004
Disease: Somnolence
Somnolence 		87 0 12 0.13 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 15 0.13 0 0
CUI: C4022157
Disease: Muscle fiber cytoplasmatic inclusion bodies
Muscle fiber cytoplasmatic inclusion bodies 		2 0 2 0.12 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		12 0 3 0.12 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 6 0.12 0 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		12 0 3 0.12 0 0
CUI: C0393933
Disease: Pseudomyopathic myasthenia
Pseudomyopathic myasthenia 		3 0 2 0.12 0 0
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		3 0 2 0.12 0 0
CUI: C3151525
Disease: Hypoplastic heart
Hypoplastic heart 		3 0 2 0.12 0 0
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		3 0 2 0.12 0 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		102 0 12 0.11 0 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia 		4 0 2 0.11 0 0
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature 		4 0 2 0.11 0 0
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		14 0 3 0.11 0 0
CUI: C4022169
Disease: EMG: myotonic discharges
EMG: myotonic discharges 		4 0 2 0.11 0 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		14 0 3 0.11 0 0