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: C4082304
Disease: Oligodontia
Oligodontia 		62 34 61 0.28 26 0.46
CUI: C0239676
Disease: High forehead
High forehead 		211 0 73 0.21 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 6 51 0.18 2 3.8E-02
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 37 0.17 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 38 0.17 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 83 0.16 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 38 0.15 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 43 0.15 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 38 0.15 0 0
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		77 0 37 0.14 0 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		78 0 36 0.14 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 47 0.14 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 41 0.14 0 0
CUI: C0000846
Disease: Agenesis
Agenesis 		161 44 45 0.13 10 0.12
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 40 0.13 0 0
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		41 15 29 0.13 10 0.19
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 134 0.12 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 36 0.12 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 39 0.12 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 70 0.12 0 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		81 0 31 0.12 0 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		139 0 37 0.12 0 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		152 0 38 0.11 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 39 0.11 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 136 0.11 0 0