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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 498 0.36 9 1.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 633 0.36 88 8.8E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 585 0.35 52 5.5E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 542 0.32 4 6.9E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 366 0.29 21 3.3E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 323 0.27 4 6.4E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 315 0.26 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 372 0.26 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 403 0.25 1 1.7E-03
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 419 0.25 15 1.8E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 393 0.25 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 349 0.25 20 3.1E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 337 0.24 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 337 0.24 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 327 0.24 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		609 17 301 0.24 3 5.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 323 0.23 13 1.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 239 0.23 255 0.27
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 275 0.22 7 1.1E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 34 258 0.21 4 6.6E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 270 0.21 5 8.1E-03
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 215 0.21 3 5.0E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 253 0.20 5 8.0E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		622 44 258 0.20 2 3.2E-03
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 226 0.19 16 2.6E-02