RPS23, ribosomal protein S23, 6228

N. diseases: 37; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		0.700 GeneticVariation disease UNIPROT A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 28257692 2017
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 GeneticVariation group BEFREE These discoveries describe a ribosomopathy linked to uS12 and reveal mechanistic distinctions between RP gene mutations driving hematopoietic disease and those resulting in developmental disorders. 28257692 2017
CUI: C0038826
Disease: Superinfection
Superinfection 		0.010 GeneticVariation group BEFREE We developed a polymerase chain reaction (PCR) method, based on strain-to-strain variation of DNA repeats in the herpes simplex virus type 2 (HSV-2) genes US1 and US12, to genotype HSV-2 strains and determine the incidence and risk factors associated with HSV-2 superinfection in patients with recurrent genital herpes (RGH). 16991086 2006
CUI: C1274323
Disease: Recurrent genital herpes simplex
Recurrent genital herpes simplex 		0.010 GeneticVariation disease BEFREE We developed a polymerase chain reaction (PCR) method, based on strain-to-strain variation of DNA repeats in the herpes simplex virus type 2 (HSV-2) genes US1 and US12, to genotype HSV-2 strains and determine the incidence and risk factors associated with HSV-2 superinfection in patients with recurrent genital herpes (RGH). 16991086 2006
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		0.700 Biomarker disease GENOMICS_ENGLAND A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 28257692 2017
CUI: C4479431
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 		0.700 Biomarker disease CTD_human
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with microcephaly, hearing loss, and overlapping dysmorphic features. 28257692 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837402
Disease: Flat occiput
Flat occiput 		0.100 Biomarker phenotype HPO
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		0.100 Biomarker phenotype HPO