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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 50 7.6E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 24 7.6E-02 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 27 7.4E-02 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		533 0 45 7.3E-02 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 0 14 7.3E-02 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 38 7.1E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 24 7.0E-02 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 65 7.0E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 0 47 7.0E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 47 6.9E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 41 6.6E-02 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 10 6.4E-02 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 13 6.4E-02 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 10 6.4E-02 0 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		165 0 17 6.2E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 31 6.2E-02 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 9 6.2E-02 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 12 6.1E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 0 12 6.0E-02 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 23 5.9E-02 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 12 5.8E-02 0 0
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		44 0 9 5.6E-02 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 19 5.6E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 59 5.5E-02 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 28 5.4E-02 0 0