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: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.1E-02 0 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		92 0 1 1.1E-02 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 1.0E-02 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 1 1.0E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 1 8.9E-03 0 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		117 0 1 8.5E-03 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 1 8.3E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 7.4E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		144 114 1 6.9E-03 2 1.7E-02
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 1 6.7E-03 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 1 6.6E-03 0 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 0 1 6.5E-03 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 1 6.3E-03 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 1 6.2E-03 0 0
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		164 0 1 6.1E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 5.9E-03 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		171 0 1 5.8E-03 0 0
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis 		181 0 1 5.5E-03 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 1 5.3E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 5.3E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 1 4.6E-03 0 0
CUI: C0275524
Disease: Coinfection
Coinfection 		252 0 1 4.0E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 1 3.8E-03 0 0
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		267 0 1 3.7E-03 0 0