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: C0393933
Disease: Pseudomyopathic myasthenia
Pseudomyopathic myasthenia 		3 0 1 0.33 0 0
CUI: C1837092
Disease: Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 		4 0 1 0.25 0 0
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		5 21 1 0.20 1 3.0E-02
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		7 0 1 0.14 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 1 0.12 0 0
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		9 0 1 0.11 0 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 1 0.11 0 0
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		12 0 1 8.3E-02 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 1 7.7E-02 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 1 7.7E-02 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 1 7.7E-02 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 1 6.7E-02 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 1 6.2E-02 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 1 6.2E-02 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 1 5.9E-02 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 1 1 5.6E-02 1 7.7E-02
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 1 5.6E-02 0 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		18 0 1 5.6E-02 0 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		19 0 1 5.3E-02 0 0
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		21 0 1 4.8E-02 0 0
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		24 0 1 4.2E-02 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 1 3.4E-02 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 1 3.3E-02 0 0
CUI: C0013144
Disease: Drowsiness
Drowsiness 		31 0 1 3.2E-02 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 1 2.6E-02 0 0