COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE We screened cancer patients' tumors for FA functional defects then aimed to establish the safety/feasibility of administering PARP inhibitors as monotherapy and combined with a DNA-breaking agent. 26848151 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE Acquisition of Relative Interstrand Crosslinker Resistance and PARP Inhibitor Sensitivity in Fanconi Anemia Head and Neck Cancers. 25609062 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous recombination in which BRCA1 and BRCA2 play important roles, we investigated whether this pathway harbors other predictors of PARP inhibitor sensitivity. 25583207 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE EGFR-activating mutations correlate with a Fanconi anemia-like cellular phenotype that includes PARP inhibitor sensitivity. 23966292 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 GeneticVariation disease BEFREE In addition, identifying inherited mutations in a variety of FA-BRCA pathway genes may aid in identifying individuals who will selectively benefit from PARP inhibitors. 22264603 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.060 Biomarker disease BEFREE At a high concentration of cisplatin, both FA and corrected cells showed a robust cleavage of procaspases and PARP. 12749865 2003