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: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 5 41 0.23 1 3.7E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 105 0.20 1 1.3E-02
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 17 51 0.20 1 2.6E-02
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 30 0.20 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 28 0.20 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 28 0.20 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 71 0.18 8 9.8E-02
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		156 0 45 0.18 0 0
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		59 0 29 0.17 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 17 38 0.17 3 8.1E-02
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 31 0.16 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 41 0.15 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 76 0.15 5 3.6E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 29 0.15 0 0
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		31 0 20 0.14 0 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		49 0 22 0.13 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 42 0.13 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 35 0.13 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 20 0.13 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 37 0.13 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 76 0.13 1 2.4E-02
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		95 0 26 0.13 0 0
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		78 0 24 0.13 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 12 39 0.12 1 2.9E-02
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 19 0.12 0 0