Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital contractural arachnodactyly
0.030 Biomarker disease BEFREE The in vitro data correlated with the expression of FGFRs in human CCA specimens by immunohistochemistry (FGFR1, 30% positive; and FGFR2, 65% positive) and the CCA cell lines assayed by Western blot analysis. 31351075 2019
Congenital contractural arachnodactyly
0.030 Biomarker disease BEFREE FGFR2 fusion events are present in up to 17% of intrahepatic CCAs and appear to predict sensitivity to FGFR inhibitors even after progression on chemotherapy. 25678238 2015
Congenital contractural arachnodactyly
0.030 Biomarker disease BEFREE Understanding the role of the FGFR2 pathway as a disease pathogenetic mechanism and the ability to develop targeted therapies and diagnostics surrounding this concept are critical elements toward developing novel targeted approaches in CCA. 25763789 2015