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: C1859828
Disease: Increased extraneuronal autofluorescent lipopigment
Increased extraneuronal autofluorescent lipopigment 		2 0 2 0.33 0 0
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		19 4 6 0.32 3 4.5E-02
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		8 0 3 0.27 0 0
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		16 0 4 0.22 0 0
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		5 0 2 0.22 0 0
CUI: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		6 0 2 0.20 0 0
CUI: C0235328
Disease: Obstruction of colon
Obstruction of colon 		1 0 1 0.17 0 0
CUI: C0236960
Disease: Dementia due to Parkinson's disease
Dementia due to Parkinson's disease 		1 0 1 0.17 0 0
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		1 6 1 0.17 4 5.9E-02
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		1 0 1 0.17 0 0
CUI: C1843169
Disease: Clusters of axonal regeneration
Clusters of axonal regeneration 		1 0 1 0.17 0 0
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		1 0 1 0.17 0 0
CUI: C1864669
Disease: NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 		1 0 1 0.17 0 0
CUI: C1864670
Disease: Neuronal Ceroid Lipofuscinosis, Congenital
Neuronal Ceroid Lipofuscinosis, Congenital 		1 0 1 0.17 0 0
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED 		1 0 1 0.17 0 0
CUI: C4285793
Disease: Paroxysmal sympathetic hyperactivity
Paroxysmal sympathetic hyperactivity 		1 0 1 0.17 0 0
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		1 0 1 0.17 0 0
CUI: C4749824
Disease: Charcot-Marie-Tooth disease type 2B5
Charcot-Marie-Tooth disease type 2B5 		1 0 1 0.17 0 0
CUI: C0277827
Disease: Early fontanel closure
Early fontanel closure 		2 0 1 0.14 0 0
CUI: C1843228
Disease: Hypotrophy of the small hand muscles
Hypotrophy of the small hand muscles 		2 0 1 0.14 0 0
CUI: C2930674
Disease: Human Babesiosis
Human Babesiosis 		2 0 1 0.14 0 0
CUI: C2930862
Disease: Primary angiitis of the central nervous system
Primary angiitis of the central nervous system 		2 0 1 0.14 0 0
CUI: C0238044
Disease: Concentric hypertrophic cardiomyopathy
Concentric hypertrophic cardiomyopathy 		3 0 1 0.12 0 0
CUI: C0275594
Disease: Infection due to Brucella suis
Infection due to Brucella suis 		3 0 1 0.12 0 0
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		12 0 2 0.12 0 0