CREBBP, CREB binding protein, 1387

N. diseases: 438; N. variants: 123
Disease: Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.120 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.120 GeneticVariation disease BEFREE We report on a child with a Rubinstein-Taybi syndrome (RTS) due to a germline deletion in CREBBP, who developed a MB. 24115570 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.120 Biomarker disease BEFREE Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP). 22722829 2012