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: C0234132
Disease: Pyramidal sign
Pyramidal sign 		155 10 80 0.14 3 4.9E-02
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 86 0.14 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 97 0.14 0 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 5 69 0.14 2 3.5E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 143 0.13 5 3.6E-02
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 78 0.13 0 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		108 0 69 0.13 0 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		109 0 69 0.13 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 166 0.13 3 1.4E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 143 0.13 2 1.2E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 83 0.12 5 6.0E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 12 77 0.12 1 1.5E-02
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		156 0 70 0.12 0 0
CUI: C0234376
Disease: Action Tremor
Action Tremor 		95 0 63 0.12 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 279 0.12 5 8.3E-03
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 75 0.12 1 1.2E-02
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 109 0.12 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 27 71 0.12 1 1.3E-02
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 83 0.12 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 80 0.11 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 67 0.11 0 0
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		373 95 87 0.11 1 6.8E-03
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 95 0.11 1 1.0E-02
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 42 80 0.11 1 1.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 230 0.11 8 1.3E-02