Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6235
Gene Symbol: RPS29
RPS29
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GermlineCausalMutation ORPHANET Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207

2014