Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6154
Gene Symbol: RPL26
RPL26
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GermlineCausalMutation ORPHANET Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. 22431104

2012