Annotation Detail

Information
Associated Genes
SHMT1
Associated Variants
SHMT1 MUTATION
SHMT1 MUTATION
Associated Disease
severe combined immunodeficiency
Source Database
DisGeNET
Description
The expression of the PRSS3, ABCC4, TXN, SHMT1 and CMPK genes was significantly promoted in the orthotopically implanted SCID mouse model of the 4 lung cancer cell lines by the administration of S-1, while the expression of the LMO7 and FOLH1 genes was significantly suppressed.
Pubmed
25405593
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