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: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy
22 0 10 7.9E-02 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
148 0 19 7.8E-02 0 0
CUI: C0018524
Disease: Hallucinations
Hallucinations
178 0 21 7.7E-02 0 0
Central retinal vessel vascular tortuosity
11 0 9 7.7E-02 0 0
CUI: C0271196
Disease: Scotoma, Centrocecal
Scotoma, Centrocecal
12 0 9 7.6E-02 0 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity
27 0 10 7.6E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 0 48 7.6E-02 0 0
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
100 46 15 7.5E-02 1 2.0E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 23 7.5E-02 0 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
43 0 11 7.5E-02 0 0
Sensorineural hearing loss, bilateral
117 0 16 7.4E-02 0 0
CUI: C0234378
Disease: Static Tremor
Static Tremor
62 0 12 7.3E-02 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
93 0 14 7.2E-02 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 60 7.2E-02 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 60 7.2E-02 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome
20 0 9 7.1E-02 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia
20 0 9 7.1E-02 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation
20 0 9 7.1E-02 0 0
Mitochondrial respiratory chain defects
21 0 9 7.1E-02 0 0
CUI: C0086543
Disease: Cataract
Cataract
878 0 65 7.0E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
241 0 23 6.9E-02 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
89 0 13 6.8E-02 0 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
58 0 11 6.8E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 0 60 6.8E-02 0 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
59 0 11 6.7E-02 0 0