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 77 304 0.35 8 6.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 278 0.35 6 5.4E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 231 0.31 2 2.5E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 269 0.30 2 2.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 242 0.29 8 7.4E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 363 0.29 2 3.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 300 0.29 5 3.0E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 351 0.29 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 220 0.28 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 358 0.27 7 2.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 290 0.25 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 170 0.25 6 7.1E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		432 0 199 0.25 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 193 0.24 4 5.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 220 0.24 2 2.0E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 216 0.24 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 184 0.24 6 6.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 238 0.23 3 2.2E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		266 0 158 0.23 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 160 0.23 1 1.3E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		320 22 165 0.23 2 2.8E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 184 0.23 2 2.2E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 145 0.22 3 4.4E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 357 0.21 23 4.3E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 136 0.21 4 6.2E-02