RPIA, ribose 5-phosphate isomerase A, 22934

N. diseases: 52; N. variants: 3
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.
Ribose 5-Phosphate Isomerase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 3 0.710 None 1.000 4 3 2004 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.120 None 1.000 2 2004 2019
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
Elevated circulating ribitol concentration
phenotype Finding 1 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 93 21 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4703637
Disease: Increased level of ribitol in CSF
Increased level of ribitol in CSF
phenotype Finding 1 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
Decreased level of erythritol in urine
phenotype Finding 1 0.100 None 0
CUI: C4703640
Disease: Increased level of xylitol in urine
Increased level of xylitol in urine
phenotype Finding 1 0.100 None 0
CUI: C4703639
Disease: Increased level of ribose in CSF
Increased level of ribose in CSF
phenotype Finding 1 0.100 None 0
CUI: C4703638
Disease: Increased level of ribose in urine
Increased level of ribose in urine
phenotype Finding 1 0.100 None 0
CUI: C4703636
Disease: Increased level of ribitol in urine
Increased level of ribitol in urine
phenotype Finding 1 0.100 None 0
Increased level of D-threitol in urine
phenotype Finding 1 0.100 None 0
Increased level of D-threitol in CSF
phenotype Finding 1 0.100 None 0
Increased level of D-threitol in plasma
phenotype Finding 1 0.100 None 0
Decreased level of erythritol in CSF
phenotype Finding 1 0.100 None 0
CUI: C4703641
Disease: Increased level of xylitol in CSF
Increased level of xylitol in CSF
phenotype Finding 1 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0