TRNS2, tRNA, 4575

N. diseases: 152; N. variants: 2
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: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		phenotype Cardiovascular Diseases Pathologic Function 88 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 68 74 0.100 None 0 1
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 31 6 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C4016628
Disease: CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS 		disease Finding 1 1 0.100 None 0 1
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		phenotype Finding 21 3 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		phenotype Finding 46 2 0.100 None 0
CUI: C4025732
Disease: Tubulointerstitial abnormality
Tubulointerstitial abnormality 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 0.100 None 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		disease Anatomical Abnormality 16 1 0.100 None 0