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: C0234146
Disease: Absent reflex
Absent reflex 		201 0 116 0.29 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 104 0.24 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 89 0.20 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 75 0.18 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 96 0.18 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 63 0.17 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 69 0.17 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 113 0.17 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 120 0.16 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 59 0.16 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 121 0.16 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 123 0.16 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 73 0.16 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 170 0.15 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 63 0.15 0 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		86 0 52 0.15 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 114 0.15 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 152 0.15 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 118 0.15 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 89 0.15 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 53 0.14 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 80 0.14 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		93 0 50 0.14 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 71 0.14 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 97 0.14 0 0