RPL18, ribosomal protein L18, 6141

N. diseases: 31; 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 GermlineCausalMutation disease ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134 2017