RPS20, ribosomal protein S20, 6224

N. diseases: 86; N. variants: 3
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker group CLINGEN Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. 27713038 2017
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker group CLINGEN Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. 24941021 2014