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: C0028738
Disease: Nystagmus
Nystagmus 		803 83 363 0.32 12 7.7E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 355 0.32 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 355 0.32 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 499 0.30 39 7.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 345 0.29 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 366 0.29 21 3.3E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 278 0.28 2 1.5E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 271 0.28 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 412 0.27 1 1.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 416 0.27 31 6.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 265 0.26 2 1.5E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 296 0.26 6 3.0E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		413 30 218 0.25 2 1.8E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 253 0.25 4 2.5E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 329 0.24 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 238 0.23 3 2.2E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 318 0.23 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 303 0.23 17 7.3E-02
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 334 0.23 10 2.7E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 212 0.22 4 2.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 192 0.21 5 4.3E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 249 0.21 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		432 0 195 0.21 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		496 66 205 0.21 10 7.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		446 0 195 0.21 0 0