Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET MUTATION
RET MUTATION
RET p.Thr170Ile (p.T170I) ( ENST00000638465.2, ENST00000683278.2, ENST00000640619.2, ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000684216.2, ENST00000615310.5 )
RET p.Ser836= (p.S836=) ( ENST00000355710.8, ENST00000615310.5, ENST00000713926.1, ENST00000340058.6 )
TGFB1 p.Thr263Ile (p.T263I) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
RET p.Thr170Ile (p.T170I) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 )
RET p.Ser836= (p.S836=) ( ENST00000713926.1, ENST00000340058.6, ENST00000355710.8, ENST00000615310.5 )
TGFB1 p.Thr263Ile (p.T263I) ( ENST00000221930.6, ENST00000600196.2, ENST00000677934.1 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Thyroid Nodule
- Source Database
- DisGeNET
- Description
- Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.03) and GFRA1 -193C>G (rs not assigned, P = 0.05) and decreased risk with XRCC1 R194W (rs1799782, P trend = 0.03) and TGFB1 T263I (rs1800472, P = 0.009).
- Pubmed
- 19138047
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2009
Drugs