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: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C0038826
Disease: Superinfection
Superinfection 		group Infections Disease or Syndrome 85 0.010 None 1.000 1 2006 2006
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype Finding 83 17 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: C0403824
Disease: Teratozoospermia
Teratozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 2018 2018
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 45 6 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
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
CUI: C1274320
Disease: Recurrent herpes simplex infection of eye
Recurrent herpes simplex infection of eye 		disease Infections; Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2009 2009
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		disease Disease or Syndrome 2 2 0.700 moderate 1.000 1 2 2017 2017