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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 418 0.29 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 431 0.28 12 2.9E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 460 0.28 2 9.5E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 306 0.27 5 2.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 286 0.25 3 1.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 307 0.24 6 2.8E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 10 224 0.24 1 6.9E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 303 0.24 4 1.9E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 257 0.24 18 9.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 338 0.23 15 2.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 206 0.22 7 4.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 481 0.22 25 3.8E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 258 0.22 4 2.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 257 0.21 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 308 0.21 5 1.7E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 320 0.20 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 500 0.20 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 209 0.20 2 1.2E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 237 0.19 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 214 0.19 2 1.2E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 32 203 0.19 2 1.2E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 199 0.19 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 209 0.18 1 5.1E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 168 0.17 7 4.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 166 0.17 2 1.2E-02