RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Anemia, Diamond-Blackfan ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869066130
rs869066130
Entrez Id: 6223;102465478
Gene Symbol: RPS19;MIR6797
RPS19;MIR6797
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		C 0.700 CausalMutation CLINVAR Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 25946618 2015
dbSNP: rs869066130
rs869066130
Entrez Id: 6223;102465478
Gene Symbol: RPS19;MIR6797
RPS19;MIR6797
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		C 0.700 CausalMutation CLINVAR Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. 15059149 2004
dbSNP: rs869066130
rs869066130
Entrez Id: 6223;102465478
Gene Symbol: RPS19;MIR6797
RPS19;MIR6797
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		C 0.700 CausalMutation CLINVAR Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. 15075082 2004
dbSNP: rs869066130
rs869066130
Entrez Id: 6223;102465478
Gene Symbol: RPS19;MIR6797
RPS19;MIR6797
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		C 0.700 CausalMutation CLINVAR Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 11112378 2000
dbSNP: rs869066130
rs869066130
Entrez Id: 6223;102465478
Gene Symbol: RPS19;MIR6797
RPS19;MIR6797
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		C 0.700 CausalMutation CLINVAR Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 10590074 1999