Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6141
Gene Symbol: RPL18
RPL18
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GermlineCausalMutation ORPHANET Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. 28280134

2017