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: C0596887
Disease: mathematical ability
mathematical ability 		854 0 1 1.0E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.3E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.7E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 0 1 2.2E-03 0 0
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		338 0 1 2.2E-03 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 1 2.3E-03 0 0
CUI: C1314691
Disease: Age at menarche
Age at menarche 		267 0 1 2.6E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 1 2.6E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.7E-03 0 0
CUI: C0489786
Disease: Height
Height 		249 0 1 2.7E-03 0 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		235 0 1 2.8E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 2 2.9E-03 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 1 2.9E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 3.0E-03 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 1 3.0E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 3.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 3 3.2E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 3.2E-03 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		191 0 1 3.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 3 3.3E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 3 3.3E-03 0 0
CUI: C0037763
Disease: Spasm
Spasm 		172 0 1 3.4E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 3.4E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 3.5E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 3.5E-03 0 0