H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
Disease: Carcinogenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 GeneticVariation phenotype BEFREE Frequent mutations in chromatin-modifier genes were identified including, noticeably, a truncating mutation in SETD2 (n = 4), which resulted in loss of H3K36 trimethylation and was mutually exclusive with H3F3A K27M mutation (n = 3), suggesting that epigenetic dysregulation may lead to DCG tumorigenesis. 28852847 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 GeneticVariation phenotype BEFREE Recurrent mutations in H3F3A at K27 and G34 are frequent in pediatric glioblastoma, but it is unclear how these mutations promote tumorigenesis. 23658294 2013