RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Anemia, Diamond-Blackfan, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853666
Disease: Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 2 		0.010 GeneticVariation disease BEFREE Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. 12586610 2003