Annotation Detail

Information
Associated Genes
SLC19A1
Associated Variants
SLC19A1 MUTATION
SLC19A1 MUTATION
Associated Disease
neuroblastoma
Source Database
DisGeNET
Description
Our results suggest that individuals carriers of genotype AA for the SLC19A1 gene present risk for the development of neuroblastoma and possibly have difficulty in absorption of folic acid by the cells, and this may adversely affect the metabolism of folate causing genomic instability and promoting the development of cancer.
Pubmed
24771227
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs