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: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		51 0 1 1.9E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 1 1.1E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 6.7E-03 0 0
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		213 0 1 4.7E-03 0 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		685 0 1 1.5E-03 0 0
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 0 1 2.3E-02 0 0
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		320 0 1 3.1E-03 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 0 1 6.1E-04 0 0
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		39 0 1 2.4E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.3E-03 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 1 3.3E-03 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 1 3.0E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 1 4.2E-03 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		52 0 1 1.9E-02 0 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		49 0 1 2.0E-02 0 0
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		195 0 1 5.1E-03 0 0
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		92 0 1 1.1E-02 0 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		360 0 1 2.8E-03 0 0
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		843 0 1 1.2E-03 0 0
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		160 0 1 6.2E-03 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 0 1 9.3E-04 0 0
CUI: C1836851
Disease: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 		5 0 1 0.14 0 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		38 0 1 2.5E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 4.7E-03 0 0