Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL MUTATION
MPL MUTATION
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- anemia
- Source Database
- DisGeNET
- Description
- When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/K), were more frequently female, were older (61 years vs. 57 years; P = 0.02), presented with more severe anaemia (haemoglobin, 101 g/l vs. 121 g/l; P = 0.002) and were more likely to require regular transfusional support (P = 0.012).
- Pubmed
- 17408465
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2007
Drugs