Annotation Detail

Information
Associated Genes
DRD4
Associated Variants
rs1800955
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 )
DBH c.-979T>C
DBH p.Glu162= (p.E162=) ( ENST00000393056.8 )
MAOA p.Arg297= (p.R297=) ( ENST00000338702.4, ENST00000542639.6, ENST00000686683.1, ENST00000688006.1, ENST00000689087.1, ENST00000693128.1 )
rs1800955
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 )
DBH c.-979T>C
DBH p.Glu162= (p.E162=) ( ENST00000393056.8 )
MAOA p.Arg297= (p.R297=) ( ENST00000338702.4, ENST00000542639.6, ENST00000686683.1, ENST00000688006.1, ENST00000689087.1, ENST00000693128.1 )
COMT c.*2_*3insA
COMT c.*2_*3insC
COMT c.*2_*3insCC
COMT c.*2_*3insA
COMT c.*2_*3insC
COMT c.*2_*3insCC
Associated Disease
attention deficit hyperactivity disorder
Source Database
DisGeNET
Description
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800955 with significant main effects of DRD4 exon3 VNTR, DAT1 3'UTR and intron 8 VNTR, MAOA u-VNTR, rs6323, COMT rs4680, rs362204, DBH rs1611115 and rs1108580 thereby pointing towards a strong association of these markers with ADHD.
Pubmed
21216270
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.329422283761944
Year of publication
2011
Drugs