PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 45; N. variants: 10
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
disease Cardiovascular Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 8 0.700 9 8 2002 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.320 strong 1.000 10 1 2005 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.310 1.000 1 1 2008 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 7 2005 2018
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 220 7 0.300 1 1 2009 2009
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 68 0.300 1 2009 2009
CUI: C0270823
Disease: Petit mal status
Petit mal status
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 75 0.300 1 2009 2009
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.130 1.000 3 2 2006 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.120 1.000 2 2014 2015
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0 1
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid
phenotype Finding 4 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Finding 118 0.100 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 232 1 0.100 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype Finding 51 1 0.100 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Finding 85 3 0.100 0
CUI: C1854302
Disease: Involuntary jerking movements
Involuntary jerking movements
phenotype Finding 122 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0