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: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		2 0 1 0.50 0 0
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		3 0 1 0.33 0 0
CUI: C4523900
Disease: Axonal edema
Axonal edema 		3 0 1 0.33 0 0
CUI: C0752107
Disease: Brain Diseases, Metabolic, Inherited
Brain Diseases, Metabolic, Inherited 		4 0 1 0.25 0 0
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn 		4 0 1 0.25 0 0
CUI: C0752110
Disease: Central Nervous System Inborn Metabolic Diseases
Central Nervous System Inborn Metabolic Diseases 		4 0 1 0.25 0 0
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		4 0 1 0.25 0 0
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 0 1 0.25 0 0
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		6 0 1 0.17 0 0
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		6 0 1 0.17 0 0
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous 		7 0 1 0.14 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 1 0.14 0 0
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor 		8 0 1 0.12 0 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		8 0 1 0.12 0 0
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		8 0 1 0.12 0 0
CUI: C0748903
Disease: spinal cord involvement
spinal cord involvement 		9 0 1 0.11 0 0
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		9 0 1 0.11 0 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		9 0 1 0.11 0 0
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		10 0 1 1.0E-01 0 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		10 0 1 1.0E-01 0 0
CUI: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis 		10 0 1 1.0E-01 0 0
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology 		10 0 1 1.0E-01 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 1 1.0E-01 0 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 1 9.1E-02 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		11 0 1 9.1E-02 0 0