Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Late-Infantile Neuronal Ceroid Lipfuscinosis
19 0 12 0.52 0 0
Increased neuronal autofluorescent lipopigment
8 0 8 0.50 0 0
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
6 0 6 0.38 0 0
Ceroid Lipofuscinosis, Neuronal, Parry Type
5 2 5 0.31 1 1.0E-01
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
51 0 14 0.26 0 0
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
5 0 4 0.24 0 0
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
5 0 4 0.24 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2
6 0 4 0.22 0 0
Juvenile Neuronal Ceroid Lipofuscinosis
52 0 12 0.21 0 0
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7
3 0 3 0.19 0 0
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
3 0 3 0.19 0 0
Abnormal nervous system electrophysiology
3 0 3 0.19 0 0
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome
5 0 3 0.17 0 0
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
6 0 3 0.16 0 0
Infantile neuronal ceroid lipofuscinosis
22 0 5 0.15 0 0
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6
9 42 3 0.14 2 4.1E-02
Increased extraneuronal autofluorescent lipopigment
2 0 2 0.12 0 0
Granular osmiophilic deposits (GROD) in cells
2 0 2 0.12 0 0
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease
2 0 2 0.12 0 0
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
3 0 2 0.12 0 0
CUI: C0268279
Disease: Lipofuscinosis
Lipofuscinosis
4 0 2 0.11 0 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
38 0 5 0.10 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram
21 0 3 8.8E-02 0 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy
9 0 2 8.7E-02 0 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk
10 0 2 8.3E-02 0 0