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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 517 0.24 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 346 0.24 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 346 0.24 1 1.7E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 346 0.23 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 360 0.22 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 383 0.22 3 3.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 346 0.22 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 226 0.21 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 258 0.20 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 237 0.20 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 232 0.19 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 468 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 252 0.18 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 252 0.18 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 256 0.18 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 207 0.18 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 212 0.18 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 445 0.17 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 251 0.17 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 197 0.16 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 183 0.16 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 21 253 0.16 1 3.3E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 207 0.15 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 187 0.15 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 0 163 0.15 0 0