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: C0036572
Disease: Seizures
Seizures 		2152 553 3 1.4E-03 9 1.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 1 5.5E-04 2 3.2E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 1 1.8E-03 1 3.9E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 1 1.0E-03 2 8.8E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 1 3.9E-03 2 1.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 1 3.0E-03 6 4.3E-02
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		51 74 5 9.6E-02 17 0.14
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 67 2 6.2E-03 4 3.1E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		340 56 1 2.9E-03 2 1.7E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 2 1.2E-02 2 1.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 44 5 1.1E-02 4 3.8E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 33 1 5.0E-03 2 2.1E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 1 3.3E-03 1 1.0E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 30 1 2.4E-03 1 1.1E-02
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		39 24 1 2.3E-02 1 1.1E-02
CUI: C0241210
Disease: Speech Delay
Speech Delay 		58 11 1 1.6E-02 1 1.3E-02
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 11 2 2.5E-02 2 2.7E-02
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 10 1 6.6E-03 2 2.7E-02
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 9 1 1.8E-02 2 2.7E-02
CUI: C1853241
Disease: Flat face
Flat face 		83 7 1 1.1E-02 1 1.4E-02
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		9 7 1 7.1E-02 3 4.3E-02
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 6 1 2.2E-02 1 1.4E-02
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		1 6 1 0.17 4 5.9E-02
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		24 5 1 3.4E-02 2 2.9E-02
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		19 4 6 0.32 3 4.5E-02