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: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		6 0 4 0.57 0 0
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		8 0 4 0.44 0 0
CUI: C1836851
Disease: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 		5 0 3 0.43 0 0
CUI: C1859828
Disease: Increased extraneuronal autofluorescent lipopigment
Increased extraneuronal autofluorescent lipopigment 		2 0 2 0.40 0 0
CUI: C1859833
Disease: Granular osmiophilic deposits (GROD) in cells
Granular osmiophilic deposits (GROD) in cells 		2 0 2 0.40 0 0
CUI: C1850447
Disease: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material 		3 0 2 0.33 0 0
CUI: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		3 0 2 0.33 0 0
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		16 9 5 0.31 1 1.0E-01
CUI: C0268279
Disease: Lipofuscinosis
Lipofuscinosis 		4 0 2 0.29 0 0
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		6 0 2 0.22 0 0
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		19 0 4 0.20 0 0
CUI: C0235328
Disease: Obstruction of colon
Obstruction of colon 		1 0 1 0.20 0 0
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		1 0 1 0.20 0 0
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		1 0 1 0.20 0 0
CUI: C4285793
Disease: Paroxysmal sympathetic hyperactivity
Paroxysmal sympathetic hyperactivity 		1 0 1 0.20 0 0
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		1 0 1 0.20 0 0
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		22 0 4 0.17 0 0
CUI: C4280575
Disease: Progressive brain disease
Progressive brain disease 		2 0 1 0.17 0 0
CUI: C4284284
Disease: Neuronal Ceroid Lipofuscinosis Type 4B
Neuronal Ceroid Lipofuscinosis Type 4B 		2 0 1 0.17 0 0
CUI: C0238044
Disease: Concentric hypertrophic cardiomyopathy
Concentric hypertrophic cardiomyopathy 		3 0 1 0.14 0 0
CUI: C1112261
Disease: Gaze palsy
Gaze palsy 		3 0 1 0.14 0 0
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		3 0 1 0.14 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 0.12 0 0
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		4 0 1 0.12 0 0
CUI: C2242579
Disease: Lingual dystonia
Lingual dystonia 		4 0 1 0.12 0 0