TRMT1, tRNA methyltransferase 1, 55621

N. diseases: 17; N. variants: 4
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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.520 strong 1.000 3 2011 2017
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
disease Disease or Syndrome 1 3 0.400 strong 1.000 1 3 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 strong 1.000 1 2017 2017
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2011 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure
phenotype Finding 34 3 0.100 None 0
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow
phenotype Finding 11 4 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
Small for gestational age (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
phenotype Finding 77 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0