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 12 0.52 0 0
Increased neuronal autofluorescent lipopigment
8 0 7 0.35 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2
6 66 6 0.32 3 4.5E-02
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
51 74 14 0.25 1 1.3E-02
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
6 0 5 0.25 0 0
Juvenile Neuronal Ceroid Lipofuscinosis
52 0 13 0.22 0 0
Ceroid Lipofuscinosis, Neuronal, Parry Type
5 0 4 0.20 0 0
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
5 0 4 0.20 0 0
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7
3 0 3 0.16 0 0
Abnormal nervous system electrophysiology
3 0 3 0.16 0 0
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
5 0 3 0.14 0 0
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome
5 0 3 0.14 0 0
Infantile neuronal ceroid lipofuscinosis
22 0 5 0.14 0 0
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5
6 0 3 0.14 0 0
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6
9 0 3 0.12 0 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia
12 0 3 0.11 0 0
Increased extraneuronal autofluorescent lipopigment
2 0 2 0.11 0 0
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
3 0 2 1.0E-01 0 0
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1
3 0 2 1.0E-01 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders
6 0 2 8.7E-02 0 0
CUI: C0233769
Disease: Micropsia
Micropsia
6 0 2 8.7E-02 0 0
CUI: C0233771
Disease: Macropsia
Macropsia
6 0 2 8.7E-02 0 0
CUI: C3489704
Disease: Vision Disability
Vision Disability
6 0 2 8.7E-02 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram
21 0 3 8.1E-02 0 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy
9 0 2 7.7E-02 0 0