Annotation Detail
Information
- Associated Genes
- PAFAH1B1
- Associated Variants
-
PAFAH1B1 MUTATION
PAFAH1B1 MUTATION - Associated Disease
- myelodysplastic syndrome
- Source Database
- DisGeNET
- Description
- Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a disorder characterized by lymphedema and predisposition to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML).
- Pubmed
- 26214525
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00922902365073031
Drugs