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: C0028738
Disease: Nystagmus
Nystagmus 		833 95 153 0.15 9 5.4E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 121 0.15 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 144 0.15 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 144 0.15 0 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		108 0 57 0.15 0 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		109 0 57 0.15 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 167 0.15 18 2.8E-02
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		155 0 62 0.15 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 118 0.14 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 146 0.14 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 80 0.14 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 61 0.14 0 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		149 0 58 0.14 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 167 0.14 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 8 52 0.13 4 4.8E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 71 0.13 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 74 0.13 4 3.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 65 0.13 6 4.1E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 63 0.13 0 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		257 0 66 0.13 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 71 0.13 1 1.0E-02
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 53 0.13 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 50 0.12 1 9.7E-03
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 71 0.12 1 9.8E-03
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 71 0.12 5 3.5E-02