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: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis 		4 0 1 0.20 0 0
CUI: C4022906
Disease: Delayed social development
Delayed social development 		5 0 1 0.17 0 0
CUI: C4476591
Disease: Dysgenesis of the hippocampus
Dysgenesis of the hippocampus 		5 0 1 0.17 0 0
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		5 0 1 0.17 0 0
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		13 0 2 0.15 0 0
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		9 0 1 1.0E-01 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 1 9.1E-02 0 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		10 0 1 9.1E-02 0 0
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		28 0 2 7.1E-02 0 0
CUI: C0234362
Disease: Synkinesis
Synkinesis 		13 0 1 7.1E-02 0 0
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		14 0 1 6.7E-02 0 0
CUI: C0376175
Disease: Bell Palsy
Bell Palsy 		15 0 1 6.2E-02 0 0
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		15 0 1 6.2E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 1 5.6E-02 0 0
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		17 0 1 5.6E-02 0 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		17 0 1 5.6E-02 0 0
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 0 1 5.0E-02 0 0
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		20 0 1 4.8E-02 0 0
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		22 0 1 4.3E-02 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 1 4.2E-02 0 0
CUI: C1706731
Disease: Adult Extraskeletal Myxoid Chondrosarcoma
Adult Extraskeletal Myxoid Chondrosarcoma 		23 0 1 4.2E-02 0 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		23 0 1 4.2E-02 0 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		23 0 1 4.2E-02 0 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 0 2 4.0E-02 0 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		25 0 1 3.8E-02 0 0