RPS20, ribosomal protein S20, 6224

N. diseases: 86; N. variants: 3
Disease: Malignant tumor of colon ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 GeneticVariation disease BEFREE Genetic linkage analysis, exome sequencing, tumor studies, and functional investigations of 4 generations of a FCCX family led to the identification of a truncating germline mutation in RPS20, which encodes a component (S20) of the small ribosomal subunit and is a new colon cancer predisposition gene. 24941021 2014