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: C0854297
Disease: Head deformity
Head deformity 		1 0 1 0.33 0 0
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		1 0 1 0.33 0 0
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		1 0 1 0.33 0 0
CUI: C4755310
Disease: Cryptogenic late-onset epileptic spasms
Cryptogenic late-onset epileptic spasms 		1 0 1 0.33 0 0
CUI: C1859828
Disease: Increased extraneuronal autofluorescent lipopigment
Increased extraneuronal autofluorescent lipopigment 		2 0 1 0.25 0 0
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		8 0 2 0.22 0 0
CUI: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		3 0 1 0.20 0 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		9 7 2 0.20 2 2.2E-02
CUI: C0013467
Disease: East Coast Fever
East Coast Fever 		4 0 1 0.17 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 0.17 0 0
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		4 0 1 0.17 0 0
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		5 0 1 0.14 0 0
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		5 0 1 0.14 0 0
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		22 4 3 0.14 4 4.7E-02
CUI: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		6 0 1 0.12 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		6 0 1 0.12 0 0
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		6 0 1 0.12 0 0
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		16 0 2 0.12 0 0
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		7 0 1 0.11 0 0
CUI: C0742078
Disease: Mass lesion of brain
Mass lesion of brain 		7 0 1 0.11 0 0
CUI: C1866753
Disease: Impaired horizontal smooth pursuit
Impaired horizontal smooth pursuit 		7 0 1 0.11 0 0
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		7 0 1 0.11 0 0
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		19 0 2 1.0E-01 0 0
CUI: C0338478
Disease: Idiopathic Myoclonic Epilepsy
Idiopathic Myoclonic Epilepsy 		8 0 1 1.0E-01 0 0
CUI: C0338479
Disease: Symptomatic Myoclonic Epilepsy
Symptomatic Myoclonic Epilepsy 		8 0 1 1.0E-01 0 0