RPS17, ribosomal protein S17, 6218

N. diseases: 28; N. variants: 3
Disease: Diamond-Blackfan Anemia 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4 		0.600 Biomarker disease GENOMICS_ENGLAND Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4 		0.600 Biomarker disease GENOMICS_ENGLAND Ribosomal protein gene deletions in Diamond-Blackfan anemia. 22045982 2011
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4 		0.600 Biomarker disease GENOMICS_ENGLAND Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 19061985 2008
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4 		0.600 Biomarker disease CTD_human
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4 		0.600 CausalMutation disease CLINVAR