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: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		1 28 1 0.50 1 3.6E-02
CUI: C4073095
Disease: Hyporeflective spaces on macular OCT
Hyporeflective spaces on macular OCT 		1 0 1 0.50 0 0
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		2 0 1 0.33 0 0
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		2 0 1 0.33 0 0
CUI: C1969462
Disease: Demyelinating motor neuropathy
Demyelinating motor neuropathy 		2 0 1 0.33 0 0
CUI: C4025882
Disease: Movement abnormality of the tongue
Movement abnormality of the tongue 		2 0 1 0.33 0 0
CUI: C4024154
Disease: Sunken cheeks
Sunken cheeks 		3 0 1 0.25 0 0
CUI: C0451817
Disease: Dietary selenium deficiency
Dietary selenium deficiency 		5 0 1 0.17 0 0
CUI: C1861519
Disease: Moderately short stature
Moderately short stature 		5 0 1 0.17 0 0
CUI: C1834664
Disease: Nasal, dysarthic speech
Nasal, dysarthic speech 		6 0 1 0.14 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 1 1 0.12 1 1.00
CUI: C1867138
Disease: Upper limb postural tremor
Upper limb postural tremor 		8 0 1 0.11 0 0
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		10 0 1 9.1E-02 0 0
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		11 0 1 8.3E-02 0 0
CUI: C4021569
Disease: Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity 		11 0 1 8.3E-02 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 0 1 7.1E-02 0 0
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		13 0 1 7.1E-02 0 0
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		14 0 1 6.7E-02 0 0
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		15 0 1 6.2E-02 0 0
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		15 0 1 6.2E-02 0 0
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		16 0 1 5.9E-02 0 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 0 1 5.9E-02 0 0
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		17 0 1 5.6E-02 0 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		17 0 1 5.6E-02 0 0
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		19 0 1 5.0E-02 0 0