RPL15, ribosomal protein L15, 6138

N. diseases: 47; N. variants: 3
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 Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013