Annotation Detail
Information
- Associated Genes
- PLCH1
- Associated Variants
-
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 )
PLCH1 c.1326+1472A>G ( ENST00000334686.6, ENST00000340059.11, ENST00000447496.6, ENST00000460012.7, ENST00000494598.5 )
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 )
PLCH1 c.1326+1472A>G ( ENST00000334686.6, ENST00000340059.11, ENST00000447496.6, ENST00000460012.7, ENST00000494598.5 ) - Associated Disease
- adenocarcinoma
- Source Database
- DisGeNET
- Description
- The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 rs181696 were associated with ADC and SQC, respectively (odds ratio [OR] 0.61 and OR 2.01, respectively).
- Pubmed
- 22658813
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs