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: C0036572
Disease: Seizures
Seizures 		1292 0 1 7.7E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1122 0 1 8.9E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 1 9.6E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 1 9.9E-04 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 0 1 1.0E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 1 1.4E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 0 2 1.4E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		682 0 1 1.5E-03 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 2 1.6E-03 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		622 0 1 1.6E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		609 0 1 1.6E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 0 1 1.7E-03 0 0
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		563 0 1 1.8E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		561 0 1 1.8E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 0 1 1.8E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		551 0 1 1.8E-03 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 0 1 2.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 0 2 2.1E-03 0 0
CUI: C0004096
Disease: Asthma
Asthma 		446 0 1 2.2E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.3E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 2 2.3E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		420 0 1 2.4E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 0 2 2.5E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 2 2.6E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 2 2.6E-03 0 0