RPS24, ribosomal protein S24, 6229

N. diseases: 42; N. variants: 9
Disease: Anemia, Diamond-Blackfan, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 Biomarker disease GENOMICS_ENGLAND A census of human soluble protein complexes. 22939629 2012
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. 19773262 2010
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. 19689926 2009
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 17186470 2006
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 Biomarker disease CTD_human
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		0.600 CausalMutation disease CLINVAR