RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241391
Disease: Thumb absent
Thumb absent
0.400 Biomarker phenotype GENOMICS_ENGLAND RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. 15384984 2004
CUI: C0241391
Disease: Thumb absent
Thumb absent
0.400 Biomarker phenotype GENOMICS_ENGLAND Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. 1746615 1991
CUI: C0241391
Disease: Thumb absent
Thumb absent
0.400 Biomarker phenotype HPO