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: C0005890
Disease: Body Height
Body Height 		1903 0 1 5.3E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 1 5.5E-04 1 1.8E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.9E-04 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 1 8.9E-04 1 3.4E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-04 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 1 9.6E-04 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 1 9.9E-04 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		919 0 1 1.1E-03 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 1 1.1E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 1 1.3E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.3E-03 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 0 1 1.7E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.7E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.8E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 1 1.8E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.9E-03 0 0
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		489 0 1 2.0E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 2.1E-03 0 0
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		471 0 1 2.1E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 1 2.2E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.5E-03 0 0