RPS29, ribosomal protein S29, 6235

N. diseases: 32; N. variants: 2
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 Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207 2014