Publication
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
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Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- geneEZH2civic_curation1.00
- variantEZH2 Y646Ccivic_curation1.00
Curated evidence
Evidence citing this paper (4)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 20601953
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| EZH2 C576W1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Loss Of Function | 2 | submitted | EID9866EZH2 mutations were identified in a screen of 614 patients with myeloid malignancies. Several mutations in the highly conserved CXC-SET domains were expressed in Sf9 insect cells along with polycomb r… (full text at CIViC) PMID 20601953 · Ernst et al., 2010 · Open in CIViC | civic |
| EZH2 R690C1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Loss Of Function | 2 | submitted | EID9865EZH2 mutations were identified in a screen of 614 patients with myeloid malignancies. Several mutations in the highly conserved CXC-SET domain were expressed in Sf9 insect cells along with polycomb re… (full text at CIViC) PMID 20601953 · Ernst et al., 2010 · Open in CIViC | civic |
| EZH2 Y646C1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Loss Of Function | 2 | accepted | EID9868EZH2 mutations were identified in a screen of 614 patients with myeloid malignancies. Several mutations in the highly conserved CXC-SET domains were expressed in Sf9 insect cells along with polycomb r… (full text at CIViC) PMID 20601953 · Ernst et al., 2010 · Open in CIViC | civic |
| EZH2 Y731D1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Loss Of Function | 2 | submitted | EID9867EZH2 mutations were identified in a screen of 614 patients with myeloid malignancies. Several mutations in the highly conserved CXC-SET domains were expressed in Sf9 insect cells along with polycomb r… (full text at CIViC) PMID 20601953 · Ernst et al., 2010 · Open in CIViC | civic |