Source: INFERRED ×
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 		574 52 242 0.29 8 7.4E-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 		413 30 183 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 		496 66 191 0.24 10 8.3E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 169 0.24 11 0.11
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 208 0.24 2 1.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 165 0.23 10 0.11
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 212 0.22 4 2.8E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 16 137 0.22 2 2.6E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 166 0.22 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 187 0.21 7 6.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 340 0.21 17 3.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 181 0.21 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 134 0.21 6 6.9E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 262 0.21 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 227 0.20 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 251 0.20 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 238 0.20 15 7.0E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 289 0.20 0 0
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 		1122 292 264 0.20 8 2.3E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 206 0.20 1 5.5E-03
CUI: C1854114
Disease: Short nose
Short nose 		265 23 120 0.19 6 7.4E-02