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: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 35 9.0E-02 0 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		54 0 14 8.9E-02 0 0
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 11 8.7E-02 9 0.14
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 26 8.2E-02 1 1.1E-02
CUI: C0024003
Disease: Lordosis
Lordosis 		160 15 21 8.2E-02 2 2.8E-02
CUI: C2830004
Disease: Somnolence
Somnolence 		87 0 15 7.9E-02 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 13 7.9E-02 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 13 7.8E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 49 7.8E-02 33 0.15
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 20 7.8E-02 2 2.4E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 36 7.7E-02 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 36 7.6E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 23 7.5E-02 1 1.1E-02
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 10 7.5E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 23 7.5E-02 15 3.3E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 11 16 7.5E-02 2 2.9E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 16 7.4E-02 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 12 7.4E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 42 7.3E-02 5 4.0E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 22 7.2E-02 1 1.2E-02
CUI: C0012569
Disease: Diplopia
Diplopia 		75 0 13 7.2E-02 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 20 7.1E-02 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 11 7.1E-02 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 18 6.8E-02 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 31 14 6.8E-02 4 4.7E-02