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: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 17 22 9.8E-02 2 5.1E-02
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 15 10 9.2E-02 5 0.15
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 15 8.3E-02 4 6.8E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 17 7.8E-02 1 2.1E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 20 7.5E-02 9 2.1E-02
CUI: C0563243
Disease: Poor coordination
Poor coordination 		26 0 7 7.4E-02 0 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 0 7 7.1E-02 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 10 7.0E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		123 0 13 7.0E-02 0 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 0 7 7.0E-02 0 0
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		33 0 7 6.9E-02 0 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		95 0 11 6.9E-02 0 0
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 6 6.8E-02 1 2.8E-02
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 13 9 6.7E-02 1 2.8E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 14 6.7E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 59 12 6.6E-02 3 3.7E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		57 24 8 6.5E-02 6 0.14
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 29 13 6.4E-02 1 1.9E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 12 6.3E-02 0 0
CUI: C1856115
Disease: Happy demeanor
Happy demeanor 		10 0 5 6.2E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 18 6.2E-02 4 4.3E-02
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		29 3 6 6.1E-02 1 3.8E-02
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		151 14 13 6.1E-02 2 5.6E-02
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 12 8 6.1E-02 2 5.9E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 36 6.0E-02 5 2.4E-02