RNF43, ring finger protein 43, 54894

N. diseases: 88; N. variants: 9
Disease: Hyperplastic polyposis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4296896
Disease: Hyperplastic polyposis syndrome
Hyperplastic polyposis syndrome 		0.310 GeneticVariation disease BEFREE We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC. 30862463 2019
CUI: C4296896
Disease: Hyperplastic polyposis syndrome
Hyperplastic polyposis syndrome 		0.310 GermlineCausalMutation disease ORPHANET A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. 27081527 2015