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: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7
3 0 3 0.60 0 0
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
6 0 3 0.38 0 0
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
3 0 2 0.33 0 0
Abnormal nervous system electrophysiology
3 0 2 0.33 0 0
Increased neuronal autofluorescent lipopigment
8 0 3 0.30 0 0
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
5 0 2 0.25 0 0
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome
5 2 2 0.25 2 4.7E-02
Adult Neuronal Ceroid Lipofuscinosis
16 0 4 0.24 0 0
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
6 0 2 0.22 0 0
Late-Infantile Neuronal Ceroid Lipfuscinosis
19 0 4 0.20 0 0
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
1 0 1 0.20 0 0
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
2 0 1 0.17 0 0
Granular osmiophilic deposits (GROD) in cells
2 0 1 0.17 0 0
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6
9 0 2 0.17 0 0
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease
2 0 1 0.17 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration
14 0 2 0.12 0 0
Ceroid Lipofuscinosis, Neuronal, Parry Type
5 0 1 0.11 0 0
CUI: C1858501
Disease: Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 12
5 0 1 0.11 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders
6 0 1 1.0E-01 0 0
CUI: C0233769
Disease: Micropsia
Micropsia
6 0 1 1.0E-01 0 0
CUI: C0233771
Disease: Macropsia
Macropsia
6 0 1 1.0E-01 0 0
CUI: C3489704
Disease: Vision Disability
Vision Disability
6 0 1 1.0E-01 0 0
CUI: C0026613
Disease: Motor Skills Disorders
Motor Skills Disorders
8 0 1 8.3E-02 0 0
CUI: C0751366
Disease: Radiation-Induced Cancer
Radiation-Induced Cancer
8 0 1 8.3E-02 0 0
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
51 74 4 7.7E-02 4 3.5E-02