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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
779 0 334 0.33 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 334 0.33 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 95 341 0.32 2 1.4E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
539 19 228 0.26 1 1.4E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
216 12 149 0.23 3 5.0E-02
Sensorineural Hearing Loss (disorder)
783 111 245 0.22 4 2.5E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 139 0.22 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 267 0.21 5 8.0E-03
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
477 0 179 0.21 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 244 0.20 2 1.7E-02
CUI: C0086543
Disease: Cataract
Cataract
878 0 245 0.20 0 0
CUI: C0456909
Disease: Blindness
Blindness
393 34 160 0.20 4 4.9E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 150 0.20 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
580 48 191 0.20 3 3.1E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 57 193 0.20 1 9.3E-03
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
422 0 164 0.20 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 192 0.20 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
546 0 179 0.19 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 35 155 0.19 1 1.2E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 0 157 0.19 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 164 238 0.19 5 2.4E-02
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
194 0 119 0.19 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 0 249 0.18 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
842 0 212 0.18 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 193 0.18 1 7.2E-03