RNF43, ring finger protein 43, 54894

N. diseases: 26; N. variants: 8
Disease: Hyperplastic polyposis syndrome ×
Source: CURATED ×
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 GermlineCausalMutation disease ORPHANET A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred. 27081527 2015