Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		disease 0.430 strong 1.000 0 0 2016 2019
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.160 None 1.000 0 0 2014 2019
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0855790
Disease: Decreased mean corpuscular volume
Decreased mean corpuscular volume 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0438434
Disease: Scotoma, Ring
Scotoma, Ring 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0030232
Disease: Pallor
Pallor 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0235988
Disease: Serum iron low (finding)
Serum iron low (finding) 		phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		disease 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C4073079
Disease: Photoreceptor layer loss on macular OCT
Photoreceptor layer loss on macular OCT 		phenotype 0.100 None 0 0