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: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		9 11 5 0.42 4 0.20
CUI: C3151525
Disease: Hypoplastic heart
Hypoplastic heart 		3 0 3 0.38 0 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia 		4 0 3 0.33 0 0
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature 		4 0 3 0.33 0 0
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		13 0 4 0.24 0 0
CUI: C1837122
Disease: Myasthenic Syndrome, Congenital, Fast-Channel
Myasthenic Syndrome, Congenital, Fast-Channel 		3 0 2 0.22 0 0
CUI: C4023067
Disease: Sternocleidomastoid amyotrophy
Sternocleidomastoid amyotrophy 		3 0 2 0.22 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 8 0.20 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 2 0.20 0 0
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		4 8 2 0.20 1 5.0E-02
CUI: C0750194
Disease: Non-sustained ventricular tachycardia
Non-sustained ventricular tachycardia 		5 0 2 0.18 0 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		18 0 4 0.18 0 0
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		12 0 3 0.18 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 3 0.17 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 3 0.17 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 3 0.17 0 0
CUI: C4025571
Disease: Type 1 fibers relatively smaller than type 2 fibers
Type 1 fibers relatively smaller than type 2 fibers 		6 0 2 0.17 0 0
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		21 0 4 0.16 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 5 0.16 0 0
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		7 0 2 0.15 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 5 0.15 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 3 0.15 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 3 0.15 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 3 0.14 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 3 0.14 0 0