Annotation Detail
Information
- Associated Genes
- PRSS27
- Associated Variants
-
PRSS27 MUTATION
PRSS27 MUTATION - Associated Disease
- paroxysmal nocturnal hemoglobinuria
- Source Database
- DisGeNET
- Description
- No IDH1 R132 and IDH2 R172 mutations were identified in the entire cohort, whereas IDH1 G105G allele was detected in 4/108 MPN (3.70%), 2/22 MDS (9.09%), and 2/41 PNH (4.88%) patients.
- Pubmed
- 25486927
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs