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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 6 5.9E-03 1 1.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 29 1.3E-02 4 6.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 10 2.5E-02 1 3.1E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 3 2.0E-02 1 4.9E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 2 6.7E-03 1 6.0E-03
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		3 86 2 3.8E-02 7 4.6E-02
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		1515 85 34 2.2E-02 1 6.3E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 9 2.4E-02 1 6.5E-03
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		52 73 20 0.24 12 8.9E-02
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		6 66 5 9.6E-02 17 0.14
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		6 58 6 0.12 11 9.1E-02
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		5 43 4 7.7E-02 4 3.5E-02
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		9 42 3 5.3E-02 6 5.5E-02
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		3 23 3 5.9E-02 2 2.1E-02
CUI: C0241210
Disease: Speech Delay
Speech Delay 		58 11 1 9.3E-03 1 1.2E-02
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 11 6 4.9E-02 1 1.2E-02
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		41 10 1 1.1E-02 1 1.2E-02
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 9 2 1.7E-02 1 1.2E-02
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		1 6 1 2.0E-02 5 6.7E-02
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		19 4 14 0.25 1 1.3E-02
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		22 4 10 0.16 2 2.6E-02
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		1 4 1 2.0E-02 2 2.6E-02
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		123 3 5 3.0E-02 1 1.3E-02
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		5 2 5 9.8E-02 1 1.3E-02
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 2 3 5.1E-02 1 1.3E-02