PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency ×
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: rs550423482
rs550423482 		0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 5 2005 2017
dbSNP: rs104894629
rs104894629 		0.925 0.160 17 47946681 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 3 2005 2017
dbSNP: rs773450573
rs773450573 		1.000 0.160 17 47946682 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2017 2017
dbSNP: rs370243877
rs370243877 		1.000 0.160 17 47941773 missense variant A/T snv 1.1E-04 1.3E-04
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 5 2010 2016
dbSNP: rs769266169
rs769266169 		1.000 0.160 17 47946669 missense variant C/T snv 2.4E-05
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2011 2014
dbSNP: rs104894631
rs104894631 		1.000 0.160 17 47946780 stop lost T/C snv
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267606958
rs267606958 		1.000 0.160 17 47945963 stop gained C/T snv
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs774710082
rs774710082 		1.000 0.160 17 47945558 splice acceptor variant G/A snv 1.6E-05
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs780977054
rs780977054 		1.000 0.160 17 47944614 splice acceptor variant A/G snv 4.0E-06
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs796052872
rs796052872 		1.000 0.160 17 47945888 frameshift variant CCTG/- delins
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs17679445
rs17679445 		0.925 0.160 17 47944699 missense variant G/A snv 5.5E-02 5.0E-02
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017