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: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		disease Disease or Syndrome 2 8 0.730 None 1.000 3 8 2014 2016
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		disease Disease or Syndrome 2 3 0.600 strong 0 3
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 22 11 0.430 strong 1.000 3 2016 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.160 None 1.000 6 2014 2019
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 2016 2016
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 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: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype Finding 98 4 0.100 None 0
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 1 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: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		phenotype Laboratory Procedure 15 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 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
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype Finding 12 0.100 None 0
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 25 3 0.100 None 0
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane 		disease Eye Diseases Acquired Abnormality 102 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0235988
Disease: Serum iron low (finding)
Serum iron low (finding) 		phenotype Nutritional and Metabolic Diseases Finding 3 0.100 None 0
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype Finding 16 1 0.100 None 0
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