Source: INFERRED ×
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: C0234132
Disease: Pyramidal sign
Pyramidal sign 		128 0 62 0.16 0 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		139 0 63 0.16 0 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		140 0 63 0.16 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 152 0.16 9 5.9E-02
CUI: C0239676
Disease: High forehead
High forehead 		211 0 72 0.16 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 105 0.15 5 3.7E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 158 0.15 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 169 0.15 14 6.1E-02
CUI: C0233794
Disease: Memory impairment
Memory impairment 		118 15 59 0.15 3 3.3E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		178 21 67 0.15 3 3.1E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 0 119 0.15 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 140 0.15 0 0
CUI: C0542476
Disease: Forgetful
Forgetful 		108 0 57 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: C0033377
Disease: Ptosis
Ptosis 		558 0 116 0.15 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 167 0.15 18 2.8E-02
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: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		188 0 65 0.15 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		308 0 79 0.14 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		168 0 61 0.14 0 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		144 10 58 0.14 1 1.1E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		246 0 70 0.14 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		104 8 51 0.14 4 4.9E-02