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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 333 0.17 22 3.7E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 116 0.17 4 4.5E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 110 0.16 5 4.9E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 100 0.16 4 4.9E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 155 0.16 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 108 0.16 0 0
CUI: C1836047
Disease: Long face
Long face 		182 12 93 0.16 4 5.1E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 183 0.16 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 123 0.16 8 8.2E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 118 0.15 7 4.4E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 118 0.15 1 9.7E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 125 0.15 2 2.9E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 96 0.15 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 166 0.15 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 166 0.15 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 106 0.15 1 8.9E-03
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 114 0.15 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 170 0.15 5 3.1E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 92 0.15 4 4.7E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		208 28 90 0.15 3 3.2E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 97 0.15 3 3.3E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 123 0.15 9 7.3E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 17 88 0.14 1 1.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 330 0.14 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 11 85 0.14 2 2.5E-02