rs121912651, TP53

N. diseases: 53
Disease: Chronic graft-versus-host disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chronic graft-versus-host disease
CUI: C0867389
Disease: Chronic graft-versus-host disease
0.010 GeneticVariation BEFREE Moreover, the detection of pathogenic variants, including single nucleotide substitution of TP53 (c.346C>T) and BRCA2 (c.6952C>T) and splicing of KDM6A (c.1194+2T>G), suggest that the development of ESCC in the patient was triggered by impairment of checkpoint and repair for DNA damage and epigenetic modification through accumulation of gene mutations induced by chronic graft-versus-host disease and prolonged administration of tacrolimus. 30499911 2018