PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		0.710 Biomarker disease CTD_human
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 		0.710 GeneticVariation disease CLINVAR
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.400 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.100 Biomarker group HPO
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 Biomarker phenotype HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0239154
Disease: High pitched cry
High pitched cry 		0.100 Biomarker phenotype HPO
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0.100 Biomarker disease HPO
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		0.100 Biomarker phenotype HPO
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		0.100 Biomarker phenotype HPO
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 CausalMutation phenotype CLINVAR
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 Biomarker phenotype HPO