Annotation Detail
Information
- Associated Genes
- PAFAH1B1
- Associated Variants
-
PAFAH1B1 MUTATION
PAFAH1B1 MUTATION - Associated Disease
- Congenital chromosomal disease
- Source Database
- DisGeNET
- Description
- A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;17)(p10;q10).
- Pubmed
- 25130056
- 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
- 0.00760037241824849
Drugs