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: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		11 0 3 7.0E-02 0 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		42 0 5 6.9E-02 0 0
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		27 0 4 6.9E-02 0 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		12 0 3 6.8E-02 0 0
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		28 128 4 6.8E-02 1 7.8E-03
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		28 0 4 6.8E-02 0 0
CUI: C1858285
Disease: Decreased number of peripheral myelinated nerve fibers
Decreased number of peripheral myelinated nerve fibers 		28 0 4 6.8E-02 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 13 6.7E-02 0 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		29 0 4 6.7E-02 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		14 0 3 6.5E-02 0 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		31 0 4 6.5E-02 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		15 0 3 6.4E-02 0 0
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		15 0 3 6.4E-02 0 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		15 0 3 6.4E-02 0 0
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus 		15 0 3 6.4E-02 0 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		32 0 4 6.3E-02 0 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		16 0 3 6.2E-02 0 0
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		51 0 5 6.2E-02 0 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		104 0 8 6.1E-02 0 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		35 0 4 6.1E-02 0 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 6 6.0E-02 0 0
CUI: C0751870
Disease: Heredodegenerative Disorders, Nervous System
Heredodegenerative Disorders, Nervous System 		18 0 3 6.0E-02 0 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		89 0 7 6.0E-02 0 0
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		19 0 3 5.9E-02 0 0
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		19 0 3 5.9E-02 0 0