Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Adult Neuronal Ceroid Lipofuscinosis
16 0 14 0.26 0 0
Late-Infantile Neuronal Ceroid Lipfuscinosis
19 4 14 0.25 1 1.3E-02
Juvenile Neuronal Ceroid Lipofuscinosis
52 73 20 0.24 12 8.9E-02
Infantile neuronal ceroid lipofuscinosis
22 4 10 0.16 2 2.6E-02
Increased neuronal autofluorescent lipopigment
8 0 8 0.16 0 0
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
130 0 20 0.12 0 0
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
6 0 6 0.12 0 0
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
6 58 6 0.12 11 9.1E-02
Ceroid Lipofuscinosis, Neuronal, Parry Type
5 2 5 9.8E-02 1 1.3E-02
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
5 0 5 9.8E-02 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2
6 66 5 9.6E-02 17 0.14
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
38 0 7 8.5E-02 0 0
CUI: C0268279
Disease: Lipofuscinosis
Lipofuscinosis
4 0 4 7.8E-02 0 0
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
5 43 4 7.7E-02 4 3.5E-02
CUI: C0542223
Disease: Loss of speech
Loss of speech
37 0 6 7.3E-02 0 0
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
92 0 9 6.7E-02 0 0
Ceroid lipofuscinosis, neuronal 1, infantile
14 1 4 6.6E-02 1 1.4E-02
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
20 0 4 6.0E-02 0 0
CUI: C0869474
Disease: Dyscalculia
Dyscalculia
20 0 4 6.0E-02 0 0
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual
39 0 5 5.9E-02 0 0
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7
3 23 3 5.9E-02 2 2.1E-02
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia
21 0 4 5.9E-02 0 0
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
3 0 3 5.9E-02 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram
21 0 4 5.9E-02 0 0
Abnormal nervous system electrophysiology
3 0 3 5.9E-02 0 0