Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.030 AlteredExpression BEFREE The SMAD4 epithelial protein level was markedly downregulated in CD patients and inversely correlated with disease activity. 29977289

2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.030 Biomarker BEFREE However, the mutation analysis in the PTEN gene and the two other genes involved in juvenile polyposis, namely BMPR1A and MADH4 (SMAD4), in the Cowden syndrome patient failed to show any pathogenic mutation. 16292097

2005
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.030 GeneticVariation BEFREE Thus, mutations in PTEN are associated with JPS in addition to CD and some BRRS families, although the incidence of PTEN germ-line mutations in JPS might be more rare than that reported for SMAD4, a gene found to be mutated in approximately one-half of the JPS families investigated. 11156385

2000