RPS7, ribosomal protein S7, 6201

N. diseases: 52; N. variants: 2
Disease: Diamond-Blackfan Anemia 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		0.600 Biomarker disease GENOMICS_ENGLAND Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. 27882484 2017
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		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: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		0.600 CausalMutation disease CLINVAR
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		0.600 Biomarker disease CTD_human