Annotation Detail
Information
- Associated Genes
- HSD17B1
- Associated Variants
-
HSD17B1 MUTATION
HSD17B1 MUTATION
HSD17B1 c.540-147C>A ( ENST00000585807.6, ENST00000225929.5 )
COASY p.Thr353= (p.T353=) ( ENST00000421097.6, ENST00000393818.3, ENST00000590958.5 )
MLX c.841-174C>T ( ENST00000346833.8, ENST00000246912.8, ENST00000435881.7 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
ESR1 c.453-351A>G ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
HSD17B1 c.540-147C>A ( ENST00000225929.5, ENST00000585807.6 )
COASY p.Thr353= (p.T353=) ( ENST00000393818.3, ENST00000421097.6, ENST00000590958.5 )
MLX c.841-174C>T ( ENST00000246912.8, ENST00000346833.8, ENST00000435881.7 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
ESR1 c.453-351A>G ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- However, when this relation was assessed within strata based on estrogen-related factors, a few SNPs (HSD17B1 (rs2010750, rs598126 and rs676387), COMT (rs4680), UGT1A1 (rs8175347) and ESR1 (rs9340799)) seemed to be related to MD in the same direction of their associations with breast cancer risk.
- Pubmed
- 22199302
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.041944139738837
- Year of publication
- 2011
Drugs