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: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 65 0.16 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 46 0.15 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 40 0.15 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 111 0.15 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 111 0.15 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 55 0.15 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 71 0.14 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 68 0.14 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 49 0.12 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 114 0.12 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 114 0.12 0 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 35 0.12 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 0 44 0.12 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 51 0.12 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 40 0.12 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 89 0.12 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 36 0.12 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 34 0.12 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 115 0.12 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 7 31 0.12 1 5.9E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 75 0.12 1 1.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 128 0.12 2 3.4E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 74 0.12 1 9.3E-03
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 1 30 0.11 1 9.1E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 114 0.11 0 0