Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
2 0 2 0.33 0 0
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
3 0 2 0.29 0 0
Abnormal nervous system electrophysiology
3 0 2 0.29 0 0
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6
9 0 3 0.25 0 0
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
5 0 2 0.22 0 0
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
5 0 2 0.22 0 0
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome
5 0 2 0.22 0 0
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
6 0 2 0.20 0 0
Parkinsonism or Parkinson's disease NOS
1 0 1 0.17 0 0
Idiopathic Parkinsonism or Parkinson's disease
1 0 1 0.17 0 0
Primary Parkinsonism or Parkinson's disease
1 0 1 0.17 0 0
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)
1 0 1 0.17 0 0
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
1 0 1 0.17 0 0
Increased neuronal autofluorescent lipopigment
8 0 2 0.17 0 0
Adult Neuronal Ceroid Lipofuscinosis
16 0 3 0.16 0 0
CUI: C0599458
Disease: glycosphingolipidoses
glycosphingolipidoses
2 0 1 0.14 0 0
Granular osmiophilic deposits (GROD) in cells
2 0 1 0.14 0 0
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease
2 0 1 0.14 0 0
Late-Infantile Neuronal Ceroid Lipfuscinosis
19 0 3 0.14 0 0
Amphetamine or related acting sympathomimetic abuse
3 0 1 0.12 0 0
CUI: C1112261
Disease: Gaze palsy
Gaze palsy
3 0 1 0.12 0 0
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7
3 0 1 0.12 0 0
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses
51 74 6 0.12 11 9.1E-02
CUI: C0262424
Disease: CNS DEGENERATION
CNS DEGENERATION
4 0 1 0.11 0 0
CUI: C1399358
Disease: Hemiparkinsonism
Hemiparkinsonism
4 0 1 0.11 0 0