Annotation Detail

Information
Associated Genes
RARS1
Associated Variants
RARS1 MUTATION
RARS1 MUTATION
Associated Disease
juvenile myelomonocytic leukemia
Source Database
DisGeNET
Description
According to the 2008 WHO classification, the category of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) includes atypical chronic myeloid leukaemia (aCML), chronic myelomonocytic leukaemia (CMML), MDS/MPN-unclassifiable (MDS/MPN-U), juvenile myelomonocytic leukaemia (JMML) and a provisional entity, refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T).
Pubmed
25212680
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
0.000542883744160607
Drugs