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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 1.8E-03 0 0
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		401 0 1 1.9E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 1 2.2E-03 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 0 1 2.5E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 1 2.6E-03 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.8E-03 0 0
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		223 0 1 2.8E-03 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 1 2.9E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.9E-03 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 1 2.9E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 2.9E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 3.1E-03 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 1 3.2E-03 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 1 3.2E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 3.3E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 3.3E-03 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 2 3.4E-03 0 0
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		156 0 1 3.5E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 3.5E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 3.6E-03 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 1 3.6E-03 0 0
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		145 0 1 3.6E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 1 3.6E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 0 1 3.6E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 3.7E-03 0 0