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: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 408 0.95 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 149 0.20 4 6.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 246 0.20 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 203 0.19 2 1.2E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 126 0.18 3 3.8E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 108 0.18 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 150 0.18 5 2.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 154 0.18 1 9.3E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 212 0.17 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 168 0.17 3 2.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 221 0.17 4 1.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 311 0.16 12 2.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 118 0.16 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 27 88 0.16 2 3.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 182 0.15 4 2.1E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 220 0.15 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 150 0.15 2 1.8E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 108 0.15 2 3.3E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 80 0.14 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 72 0.14 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 80 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 126 0.14 4 4.9E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 113 0.14 5 5.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 169 0.14 5 8.3E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 145 0.14 0 0