H2AX, H2A.X variant histone, 3014

N. diseases: 212; N. variants: 6
Disease: Retinoblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.030 Biomarker disease BEFREE In particular, Ser140 of H2AFX also known as gamma-H2AX was found to be hyperphosphorylated in retinoblastoma, which indicated the activation of DNA damage response pathways. 29914080 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.030 Biomarker disease BEFREE We previously described an enhanced sensitivity for cell killing and gamma-H2AX focus induction after both high-dose-rate and continuous low-dose-rate gamma irradiation in 14 primary fibroblast strains derived from hereditary-type retinoblastoma family members (both affected RB1(+/-) probands and unaffected RB1(+/+) parents). 20041760 2010
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.030 Biomarker disease BEFREE G(0) cells from the RB parents were clearly hypersensitive both in the LDR gamma-H2AX assay, and for cell killing. 17339135 2007