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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 143 0.22 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 109 0.19 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 116 0.18 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 97 0.18 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 136 0.17 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 103 0.15 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 79 0.15 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 113 0.15 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 109 0.15 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 68 0.14 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 85 0.14 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 116 0.14 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 131 0.14 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 94 0.14 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 74 0.14 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 93 0.13 1 1.2E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 67 0.13 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 56 0.13 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 153 0.13 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 123 0.13 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 59 0.13 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 49 0.13 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 57 0.13 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 152 0.12 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 134 0.12 0 0