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: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 93 0.21 1 2.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 216 0.20 3 5.0E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 151 0.20 4 5.3E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 152 0.20 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 144 0.19 3 4.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 111 0.18 2 4.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 121 0.18 2 2.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 154 0.18 1 9.1E-03
CUI: C1836047
Disease: Long face
Long face 		182 0 71 0.17 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 103 0.17 1 1.8E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 116 0.17 4 4.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 181 0.17 9 5.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 128 0.17 3 3.1E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 182 0.16 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 138 0.15 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 142 0.15 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 142 0.15 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 96 0.15 2 4.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 151 0.15 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 186 0.15 7 2.3E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 62 0.15 1 3.4E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 57 0.15 1 2.9E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 93 0.15 1 1.7E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 111 0.15 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 144 0.14 3 2.6E-02