Source: ALL
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: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 8 		5 0 3 0.60 0 0
CUI: C1864923
Disease: Northern epilepsy syndrome
Northern epilepsy syndrome 		5 0 2 0.33 0 0
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		1 4 1 0.33 3 0.12
CUI: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		6 0 2 0.29 0 0
CUI: C1853507
Disease: Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 		2 0 1 0.25 0 0
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease 		2 0 1 0.25 0 0
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		8 0 2 0.22 0 0
CUI: C1850447
Disease: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material 		3 0 1 0.20 0 0
CUI: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		3 0 1 0.20 0 0
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		16 0 3 0.19 0 0
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		19 0 3 0.16 0 0
CUI: C1836851
Disease: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 		5 0 1 0.14 0 0
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		6 0 1 0.12 0 0
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		9 0 1 9.1E-02 0 0
CUI: C1856565
Disease: Progressive psychomotor deterioration
Progressive psychomotor deterioration 		11 0 1 7.7E-02 0 0
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		14 0 1 6.2E-02 0 0
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		14 0 1 6.2E-02 0 0
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		14 0 1 6.2E-02 0 0
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		51 74 3 5.9E-02 2 2.1E-02
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		52 0 3 5.8E-02 0 0
CUI: C3894553
Disease: response to simvastatin
response to simvastatin 		21 0 1 4.3E-02 0 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		48 0 2 4.1E-02 0 0
CUI: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation 		26 0 1 3.6E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 2 2.6E-02 0 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		38 0 1 2.5E-02 0 0