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: C1836830
Disease: Developmental regression
Developmental regression 		333 80 135 0.21 1 7.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 126 100 0.18 2 1.1E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 110 0.18 2 2.1E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 98 0.17 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 134 0.17 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 188 0.17 2 1.5E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 125 0.15 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 137 0.15 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 138 0.15 1 9.0E-03
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 85 0.15 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 119 0.15 1 6.3E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 121 125 0.15 2 1.1E-02
CUI: C0040822
Disease: Tremor
Tremor 		528 0 127 0.15 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 119 0.15 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 79 0.15 1 1.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 176 0.14 1 4.4E-03
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 78 0.14 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 96 0.14 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 161 0.14 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		284 84 91 0.14 3 2.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 180 0.13 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 197 0.13 8 2.0E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 304 0.13 15 2.5E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 149 0.13 1 6.3E-03
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 142 0.13 0 0