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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 107 0.15 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 118 0.15 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 136 0.15 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 107 0.15 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 112 0.15 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 135 0.14 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 7 89 0.14 2 1.2E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 168 0.14 1 2.0E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 196 0.14 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 114 0.14 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 122 0.14 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 101 0.14 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 107 0.13 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 287 0.13 1 1.4E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 192 0.13 2 1.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 165 0.13 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 170 0.13 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 157 0.13 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 157 0.13 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 313 0.13 2 6.3E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 105 0.13 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 99 0.12 1 5.0E-03
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 86 0.12 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 80 0.12 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 98 0.12 0 0