RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Inherited bone marrow failure syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		0.010 GeneticVariation disease BEFREE A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA). 29222326 2017