NOXO1, NADPH oxidase organizer 1, 124056

N. diseases: 14; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908192
rs121908192 		0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C2751320
Disease: Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases 0.800 1.000 2 2009 2010
dbSNP: rs370475970
rs370475970 		16 1985996 missense variant C/T snv 3.2E-05 7.7E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4305019
rs4305019 		16 1983940 intron variant C/A snv 0.14
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs4305019
rs4305019 		16 1983940 intron variant C/A snv 0.14
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs863224028
rs863224028 		16 1984415 frameshift variant C/- delins
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555486560
rs1555486560 		1.000 0.280 16 1984433 frameshift variant G/- delins
CUI: C2751320
Disease: Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908192
rs121908192 		0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908192
rs121908192 		0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		Eye Diseases 0.010 1.000 1 2010 2010