RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Diamond-Blackfan Anemia 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT RPS19 mutations in patients with Diamond-Blackfan anemia. 18412286 2008
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 17517689 2007
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. 15384984 2004
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. 12750732 2003
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT 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
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 11112378 2000
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 10590074 1999
dbSNP: rs782329429
rs782329429
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C2676137
Disease:
Diamond-Blackfan Anemia 1 		0.700 GeneticVariation UNIPROT The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. 9988267 1999