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: C1859828
Disease: Increased extraneuronal autofluorescent lipopigment
Increased extraneuronal autofluorescent lipopigment 		2 0 1 0.50 0 0
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		3 0 1 0.33 0 0
CUI: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		3 0 1 0.33 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 0.25 0 0
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		4 0 1 0.25 0 0
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		5 0 1 0.20 0 0
CUI: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		6 0 1 0.17 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		6 66 1 0.17 4 5.9E-02
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		6 0 1 0.17 0 0
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		7 0 1 0.14 0 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		8 0 1 0.12 0 0
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		8 0 1 0.12 0 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		9 0 1 0.11 0 0
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		10 0 1 1.0E-01 0 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		12 0 1 8.3E-02 0 0
CUI: C0278184
Disease: Scanning speech
Scanning speech 		13 0 1 7.7E-02 0 0
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		16 0 1 6.2E-02 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 1 6.2E-02 0 0
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		17 0 1 5.9E-02 0 0
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		18 0 1 5.6E-02 0 0
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades 		18 0 1 5.6E-02 0 0
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		19 4 1 5.3E-02 1 0.11
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		21 0 1 4.8E-02 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		21 0 1 4.8E-02 0 0
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		22 0 1 4.5E-02 0 0