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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 1 1.8E-03 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 1 3.2E-03 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 0 2 1.3E-02 0 0
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		130 0 2 1.5E-02 0 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 0 1 2.2E-03 0 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		140 0 1 7.0E-03 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		227 0 2 8.8E-03 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 1 2.2E-02 0 0
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: C0233844
Disease: Clumsiness
Clumsiness 		48 0 2 4.1E-02 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 1 6.7E-03 0 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		508 0 3 5.9E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 3 6.6E-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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 2 3.6E-03 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 2 5.1E-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