Annotation Detail

Information
Associated Genes
NPAS2
Associated Variants
NPAS2 MUTATION
NPAS2 MUTATION
NPAS2 p.Thr394Ala (p.T394A) ( ENST00000335681.10 )
NPAS2 p.Thr394Ala (p.T394A) ( ENST00000335681.10 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
However, when accounting for potential effect modification, rs23051560 (Ala394Thr) in the largest circadian gene, Neuronal PAS domain protein 2 (NPAS2) was most strongly associated with breast cancer risk (nominal test for interaction p-value = 0.0005; 10,000-permutation-based main-effects p-value among women with < 24 months of shift-work = 0.003).
Pubmed
22473669
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00900118904036822
Year of publication
2012
Drugs