RPL13, ribosomal protein L13, 6137

N. diseases: 20; N. variants: 0
Disease: Anemia, Diamond-Blackfan ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.300 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902 2015