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: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 36 9.0E-02 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 34 9.0E-02 1 2.1E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 40 8.8E-02 3 4.1E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 35 8.8E-02 2 4.4E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 26 8.8E-02 1 2.6E-02
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 42 8.7E-02 2 3.8E-02
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 27 8.7E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 50 48 8.7E-02 3 3.8E-02
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		140 0 28 8.7E-02 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		142 0 28 8.6E-02 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 26 8.6E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 35 8.6E-02 4 4.0E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 87 59 8.6E-02 1 8.5E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 55 8.5E-02 2 2.1E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 28 8.5E-02 0 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		147 0 28 8.5E-02 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 20 8.5E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 42 8.4E-02 4 3.7E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 33 8.4E-02 3 7.5E-02
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 30 8.3E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 88 8.2E-02 2 1.0E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 39 8.1E-02 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 38 8.1E-02 0 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 24 8.1E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 37 8.0E-02 0 0