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: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 1 2.1E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 2.1E-03 0 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		210 0 1 2.2E-03 0 0
CUI: C0040420
Disease: Tonometry
Tonometry 		206 0 1 2.2E-03 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 1 2.2E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 2.3E-03 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 1 2.3E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 2.4E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 1 2.4E-03 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 1 2.4E-03 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		156 0 1 2.4E-03 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 1 2.5E-03 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 2.5E-03 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 1 2.5E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 2.5E-03 0 0
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		135 0 1 2.6E-03 0 0
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		134 0 1 2.6E-03 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 1 2.6E-03 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 2.6E-03 0 0
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		124 0 1 2.6E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 2.7E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 2.7E-03 0 0
CUI: C0162701
Disease: Polysomnography
Polysomnography 		119 0 1 2.7E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.7E-03 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 1 2.7E-03 0 0