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: C3149083
Disease: Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex III 		5 0 1 0.20 0 0
CUI: C4020800
Disease: Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV 		6 0 1 0.17 0 0
CUI: C0342158
Disease: Hypothyroidism, Autoimmune
Hypothyroidism, Autoimmune 		17 0 1 5.9E-02 0 0
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		20 3 1 5.0E-02 1 6.2E-02
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		25 0 1 4.0E-02 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 2.4E-02 0 0
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		43 0 1 2.3E-02 0 0
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		50 0 1 2.0E-02 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		59 0 1 1.7E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		85 9 1 1.2E-02 1 4.5E-02
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 1 7.5E-03 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 1 6.3E-03 1 2.6E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 5.9E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 5.9E-03 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 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: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 1 3.7E-03 1 8.4E-03
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 1 3.3E-03 1 2.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 0 1 3.0E-03 0 0
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		335 0 1 3.0E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 34 1 2.6E-03 1 2.1E-02
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 0 1 2.6E-03 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 1 2.4E-03 0 0