Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6210
Gene Symbol: RPS15A
RPS15A
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GermlineCausalMutation ORPHANET Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 27909223

2017