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: 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