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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 9.9E-04 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.1E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.2E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.4E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 1 1.6E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.6E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.6E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.6E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 2 1.8E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 1.8E-03 0 0
CUI: C0027092
Disease: Myopia
Myopia 		490 0 1 1.9E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-03 0 0
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		486 0 1 1.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.9E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.1E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 1 2.1E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.1E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.1E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.2E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 2 2.2E-03 0 0
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 0 1 2.2E-03 0 0