Disease: Primary Myelofibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377467108
rs377467108
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0001815
Disease:
Primary Myelofibrosis 		0.010 GeneticVariation BEFREE A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). 22052707 2012