GLRX5, glutaredoxin 5, 51218

N. diseases: 70; N. variants: 6
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.
CUI: C4225155
Disease: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY 		disease Disease or Syndrome 1 3 0.600 strong 1.000 4 3 2007 2016
CUI: C4225178
Disease: Childhood-onset spasticity with hyperglycinemia
Childhood-onset spasticity with hyperglycinemia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2014 2014
CUI: C2673914
Disease: Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.500 None 1.000 1 2007 2007
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 22 11 0.340 None 1.000 5 2008 2018
CUI: C4225425
Disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY 		disease Disease or Syndrome 2 8 0.300 strong 1.000 3 2007 2016
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.120 None 1.000 2 2014 2015
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 2007 2007
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.110 None 1.000 1 2014 2014
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 2 1 2016 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1835993
Disease: Loss of ability to walk in early childhood
Loss of ability to walk in early childhood 		phenotype Finding 4 1 0.100 None 0
CUI: C0855790
Disease: Decreased mean corpuscular volume
Decreased mean corpuscular volume 		phenotype Finding 6 0.100 None 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.100 None 0
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0333912
Disease: Hypochromatism
Hypochromatism 		phenotype Finding 5 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		phenotype Finding 35 3 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4022891
Disease: Elevated hepatic iron concentration
Elevated hepatic iron concentration 		phenotype Finding 5 0.100 None 0