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: C0752107
Disease: Brain Diseases, Metabolic, Inherited
Brain Diseases, Metabolic, Inherited 		4 0 4 1.00 0 0
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn 		4 0 4 1.00 0 0
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		1 0 1 0.25 0 0
CUI: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to 		1 0 1 0.25 0 0
CUI: C3273009
Disease: Beta-Catenin-Activated Hepatocellular Adenoma
Beta-Catenin-Activated Hepatocellular Adenoma 		1 0 1 0.25 0 0
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		1 0 1 0.25 0 0
CUI: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		2 0 1 0.20 0 0
CUI: C1291129
Disease: Decreased reticulin
Decreased reticulin 		3 0 1 0.17 0 0
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		3 0 1 0.17 0 0
CUI: C1853144
Disease: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 		3 0 1 0.17 0 0
CUI: C4523900
Disease: Axonal edema
Axonal edema 		3 0 1 0.17 0 0
CUI: C0259813
Disease: Drop Attack
Drop Attack 		4 0 1 0.14 0 0
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		4 0 1 0.14 0 0
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		4 0 1 0.14 0 0
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
GRISCELLI SYNDROME, TYPE 2 		4 0 1 0.14 0 0
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		4 0 1 0.14 0 0
CUI: C1833431
Disease: Subependymal cysts
Subependymal cysts 		5 0 1 0.12 0 0
CUI: C0700595
Disease: Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood 		6 0 1 0.11 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 0.11 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 2 0.11 0 0
CUI: C0007118
Disease: Carcinoma, Basosquamous
Carcinoma, Basosquamous 		7 0 1 1.0E-01 0 0
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		7 0 1 1.0E-01 0 0
CUI: C0597645
Disease: Viral Carcinogenesis
Viral Carcinogenesis 		7 0 1 1.0E-01 0 0
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		7 0 1 1.0E-01 0 0
CUI: C4022762
Disease: Elevated brain lactate level by MRS
Elevated brain lactate level by MRS 		7 0 1 1.0E-01 0 0