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: C0848558
Disease: Hypospadias
Hypospadias 		366 80 232 0.27 11 7.4E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 368 0.27 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 277 0.27 2 1.5E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 376 0.25 5 1.4E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 401 0.25 1 6.4E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 262 0.25 9 6.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 303 0.24 4 1.9E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 270 0.23 2 1.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 211 0.23 5 4.8E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 236 0.21 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 231 0.21 5 3.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 212 0.21 2 1.4E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 229 0.21 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 11 160 0.20 2 2.2E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 160 0.20 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 205 0.20 2 1.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 278 0.20 5 7.6E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 189 0.20 2 1.9E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 292 0.20 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 161 0.19 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 174 0.19 1 5.7E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 176 0.18 1 8.5E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 387 0.18 18 2.9E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 153 0.18 4 3.5E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 144 0.18 0 0