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: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		96 0 1 1.0E-02 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 1 6.7E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.4E-03 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 1 1.8E-02 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 1 5.0E-02 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 1 4.3E-03 0 0
CUI: C4021570
Disease: Undetectable light- and dark-adapted electroretinogram
Undetectable light- and dark-adapted electroretinogram 		11 0 1 9.1E-02 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 1.1E-02 0 0
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		424 0 1 2.4E-03 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 1 3.3E-03 0 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		11 0 1 9.1E-02 0 0
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia 		19 0 1 5.3E-02 0 0
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		1 0 1 1.00 0 0
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		10 0 1 1.0E-01 0 0
CUI: C0234378
Disease: Static Tremor
Static Tremor 		62 0 1 1.6E-02 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.1E-03 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 1 2.0E-02 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 1 8.1E-03 0 0
CUI: C0037763
Disease: Spasm
Spasm 		172 0 1 5.8E-03 0 0
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		10 0 1 1.0E-01 0 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		27 0 1 3.7E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1 9.9E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 1 8.9E-04 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 0 1 7.7E-03 0 0