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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 179 0.24 4 4.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 166 0.22 2 2.7E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 135 0.22 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 135 0.22 5 8.9E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 108 0.22 3 5.2E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 109 0.19 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 76 0.19 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 86 0.19 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 85 0.18 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 98 0.18 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 108 0.18 5 7.6E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 72 0.18 4 9.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 122 0.18 3 3.6E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 195 0.17 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 116 0.17 4 4.5E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 81 0.16 2 4.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 200 0.16 4 1.3E-02
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 70 0.16 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 160 0.16 2 1.3E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 213 0.16 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 80 0.15 1 2.7E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 91 0.15 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 0 67 0.15 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 95 0.15 3 5.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 135 0.15 3 2.8E-02