TRNT1, tRNA nucleotidyl transferase 1, 51095

N. diseases: 40; N. variants: 15
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: C2613439
Disease: Extramedullary Hematopoiesis (disorder)
Extramedullary Hematopoiesis (disorder) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 1 0.010 None 1.000 1 2018 2018
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2016 2016
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.010 None 1.000 1 2019 2019
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.010 None 1.000 1 2019 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.010 None 1.000 1 2016 2016
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2019 2019
CUI: C0026946
Disease: Mycoses
Mycoses 		group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2016 2016
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2016 2016
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract 		disease Eye Diseases Anatomical Abnormality 16 3 0.010 None 1.000 1 2016 2016
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2018 2018
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2019 2019
CUI: C0002891
Disease: Anemia, Neonatal
Anemia, Neonatal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.020 None 1.000 2 2018 2019
CUI: C0221018
Disease: Hereditary sideroblastic anemia
Hereditary sideroblastic anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 1 0.030 None 1.000 3 2014 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.050 None 1.000 5 2014 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.050 None 1.000 5 2016 2019
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		phenotype Laboratory Procedure 15 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype Finding 98 4 0.100 None 0
CUI: C0855790
Disease: Decreased mean corpuscular volume
Decreased mean corpuscular volume 		phenotype Finding 6 0.100 None 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		phenotype Finding 25 4 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0438434
Disease: Scotoma, Ring
Scotoma, Ring 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 2 0.100 None 0
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype Finding 12 0.100 None 0
CUI: C4073079
Disease: Photoreceptor layer loss on macular OCT
Photoreceptor layer loss on macular OCT 		phenotype Finding 3 0.100 None 0