RPS23, ribosomal protein S23, 6228

N. diseases: 37; 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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1274323
Disease: Recurrent genital herpes simplex
Recurrent genital herpes simplex
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2006 2006
Recurrent herpes simplex infection of eye
disease Infections; Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2009 2009
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0
CUI: C0038826
Disease: Superinfection
Superinfection
group Infections Disease or Syndrome 85 0.010 None 1.000 1 2006 2006
CUI: C0039103
Disease: Synovitis
Synovitis
disease Musculoskeletal Diseases Disease or Syndrome 197 0.010 None < 0.001 1 2019 2019
CUI: C0403824
Disease: Teratozoospermia
Teratozoospermia
disease Male Urogenital Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 2018 2018
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 104 13 0.100 None 0
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 31 2 0.100 None 0