SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Disease: Hamartomatous polyposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis 		0.300 Biomarker disease GENOMICS_ENGLAND Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas. 26122142 2015