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: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		49 11 31 0.13 3 7.9E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 79 0.13 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 50 0.13 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 63 0.13 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 55 0.13 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 33 0.13 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 84 0.12 5 4.5E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 4 35 0.12 1 3.0E-02
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 30 0.12 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		50 0 30 0.12 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 30 0.12 4 0.12
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 41 0.12 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 40 0.12 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 30 0.12 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 75 0.12 0 0
CUI: C0030552
Disease: Paresis
Paresis 		216 0 47 0.12 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 75 0.12 1 1.2E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 84 0.12 2 2.6E-02
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 15 31 0.12 5 0.12
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 64 0.12 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 122 0.12 1 5.2E-03
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 3 27 0.11 1 3.1E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 63 0.11 3 3.9E-02
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 3 30 0.11 1 3.1E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 28 0.11 2 5.6E-02