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: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		3 6 2 0.29 2 0.17
CUI: C0033247
Disease: Proctocolitis
Proctocolitis 		1 0 1 0.17 0 0
CUI: C0270975
Disease: Infantile encephalopathy AND lactic acidosis
Infantile encephalopathy AND lactic acidosis 		1 0 1 0.17 0 0
CUI: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to 		1 0 1 0.17 0 0
CUI: C4225154
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 		1 0 1 0.17 0 0
CUI: C4225304
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4 		1 0 1 0.17 0 0
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		9 0 2 0.15 0 0
CUI: C0398703
Disease: Immunoglobulin G3 deficiency
Immunoglobulin G3 deficiency 		2 0 1 0.14 0 0
CUI: C0398704
Disease: Immunoglobulin G4 deficiency
Immunoglobulin G4 deficiency 		2 0 1 0.14 0 0
CUI: C3554534
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 		2 0 1 0.14 0 0
CUI: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		2 0 1 0.14 0 0
CUI: C4523900
Disease: Axonal edema
Axonal edema 		3 0 1 0.12 0 0
CUI: C0752107
Disease: Brain Diseases, Metabolic, Inherited
Brain Diseases, Metabolic, Inherited 		4 0 1 0.11 0 0
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn 		4 0 1 0.11 0 0
CUI: C0752110
Disease: Central Nervous System Inborn Metabolic Diseases
Central Nervous System Inborn Metabolic Diseases 		4 0 1 0.11 0 0
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		4 0 1 0.11 0 0
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 0 1 0.11 0 0
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		6 0 1 9.1E-02 0 0
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous 		7 0 1 8.3E-02 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 1 8.3E-02 0 0
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		8 0 1 7.7E-02 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 1 7.7E-02 0 0
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		8 0 1 7.7E-02 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		65 0 5 7.6E-02 0 0
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		23 0 2 7.4E-02 0 0