Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation phenotype BEFREE We found copy number loss of cyclin dependent kinase inhibitor 2A (CDKN2A) in 15 metastases (75%) and alterations in genes that regulate chromatin remodeling, including set domain containing 2 (SETD2) (n = 4), AT-rich interaction domain 1A (ARID1A) (n = 2), chromodomain helicase DNA binding protein 8 (CHD8) (n = 2), and DNA methyl transferase 1 (DNMT1) (n = 2). 29486199 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 AlteredExpression phenotype BEFREE An interesting dichotomy for CHD8 was observed within primary cancers, with higher nuclear protein expression associated with adverse clinical outcomes including extracapsular extension (P = .007), presence of metastases (P = .025) and worse PSA-recurrence free survival (P = .048). 25499215 2014