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 77 307 0.35 8 6.6E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 281 0.35 6 5.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 233 0.30 2 2.5E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 245 0.30 8 7.3E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 355 0.29 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 306 0.27 5 2.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 362 0.27 7 2.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 277 0.27 2 1.5E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 376 0.26 2 1.6E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 241 0.25 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 172 0.25 6 7.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 194 0.24 4 5.1E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 185 0.23 6 6.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 312 0.23 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 223 0.23 2 1.9E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 222 0.23 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 241 0.23 3 2.2E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 161 0.23 1 1.2E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 166 0.22 2 2.7E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 185 0.22 2 2.2E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 146 0.22 3 4.3E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 168 0.21 0 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 136 0.20 4 6.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 256 0.20 5 8.0E-03
CUI: C1854114
Disease: Short nose
Short nose 		265 23 140 0.20 1 1.3E-02