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: C0015930
Disease: Fetal Distress
Fetal Distress 		44 0 11 0.12 0 0
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		45 0 11 0.12 0 0
CUI: C0751267
Disease: Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Infantile 		9 0 7 0.11 0 0
CUI: C0751268
Disease: Encephalopathy, Subacute Necrotizing, Juvenile
Encephalopathy, Subacute Necrotizing, Juvenile 		9 0 7 0.11 0 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		39 4 10 0.11 1 0.25
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 13 0.11 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 27 0.11 1 9.1E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 0 30 0.10 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		123 0 17 0.10 0 0
CUI: C0231687
Disease: Spastic gait
Spastic gait 		62 0 11 1.0E-01 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 14 9.8E-02 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 23 9.4E-02 0 0
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		38 6 8 9.0E-02 1 0.17
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 47 8.5E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 38 8.4E-02 0 0
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		19 0 6 8.3E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 13 8.2E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 38 8.0E-02 0 0
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		9 0 5 7.9E-02 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 18 7.8E-02 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 15 7.3E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 37 7.3E-02 0 0
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		45 0 7 7.2E-02 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 0 19 7.2E-02 0 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		121 0 12 7.1E-02 0 0