Annotation Detail
Information
- Associated Genes
- UFD1
- Associated Variants
-
NC_000022.11:g.19479363T>C
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 )
ZDHHC8 c.558-84A>G ( ENST00000320602.11, ENST00000334554.12, ENST00000405930.3 )
NC_000022.11:g.19479363T>C
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 )
ZDHHC8 c.558-84A>G ( ENST00000320602.11, ENST00000334554.12, ENST00000405930.3 ) - Associated Disease
- DiGeorge syndrome
- Source Database
- DisGeNET
- Description
- The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403).
- Pubmed
- 22763378
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121628651232482
- Year of publication
- 2012
Drugs