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 77 262 0.32 23 0.19
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 245 0.30 8 7.3E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 138 0.26 5 6.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 184 0.25 4 4.4E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 184 0.25 10 0.11
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 191 0.24 10 8.1E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 169 0.24 11 0.11
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 165 0.23 10 0.11
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 215 0.22 4 2.7E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 137 0.22 2 2.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 212 0.21 2 1.4E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 188 0.21 7 6.1E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 134 0.21 6 6.9E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 251 0.20 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 182 0.20 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 239 0.20 15 7.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 151 0.20 5 5.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 264 0.20 8 2.3E-02
CUI: C1854114
Disease: Short nose
Short nose 		265 23 120 0.19 6 7.4E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 174 0.19 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 243 0.19 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 145 0.19 3 4.4E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 209 0.18 1 5.1E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 226 0.18 7 1.1E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 271 0.18 0 0