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: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia 		0 4 0 0 1 7.1E-02
CUI: C0272292
Disease: Acute idiopathic thrombocytopenic purpura
Acute idiopathic thrombocytopenic purpura 		0 1 0 0 1 9.1E-02
CUI: C0741585
Disease: BODY ACHE
BODY ACHE 		0 1 0 0 1 9.1E-02
CUI: C1406659
Disease: Symptomatic epilepsy
Symptomatic epilepsy 		0 9 0 0 1 5.3E-02
CUI: C3890602
Disease: Bodily Pain
Bodily Pain 		0 4 0 0 1 7.1E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.2E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.3E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.4E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.4E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.5E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 0 1 1.6E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.6E-03 0 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		430 0 1 1.8E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 1.8E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 1.8E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 1.8E-03 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		410 0 1 1.9E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 1.9E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 2 2.1E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 2 2.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 2 2.2E-03 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 1 2.2E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 1 2.2E-03 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 1 2.4E-03 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 1 2.4E-03 0 0