RPL27, ribosomal protein L27, 6155

N. diseases: 23; N. variants: 0
Disease: Aase Smith syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GeneticVariation disease ORPHANET Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902 2015