Annotation Detail

Information
Associated Genes
COMT
Associated Variants
DDC c.-29+4235_-29+4232delGAGA ( ENST00000357936.9, ENST00000426377.5, ENST00000444124.7, ENST00000615193.4, ENST00000617822.4, ENST00000622873.4 )
DDC c.-29+4235_-29+4232delGAGA ( ENST00000357936.9, ENST00000426377.5, ENST00000444124.7, ENST00000615193.4, ENST00000617822.4, ENST00000622873.4 )
COMT MUTATION
COMT MUTATION
DRD2 p.Ser311Cys (p.S311C) ( ENST00000538967.5, ENST00000346454.7, ENST00000362072.8, ENST00000542968.5, ENST00000544518.5 )
DRD2 p.Pro310Ser (p.P310S) ( ENST00000544518.5, ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5 )
COMT c.-921-3545A>G ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
COMT c.*522G>A ( ENST00000361682.11, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
DDC c.570+42G>A ( ENST00000357936.9, ENST00000380984.4, ENST00000426377.5, ENST00000431062.5, ENST00000444124.7, ENST00000615193.4, ENST00000617822.4, ENST00000622873.4 )
DRD2 p.Ser311Cys (p.S311C) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
DRD2 p.Pro310Ser (p.P310S) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
COMT c.-921-3545A>G ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
COMT c.*522G>A ( ENST00000361682.11, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
DDC c.570+42G>A ( ENST00000357936.9, ENST00000380984.4, ENST00000426377.5, ENST00000431062.5, ENST00000444124.7, ENST00000615193.4, ENST00000617822.4, ENST00000622873.4 )
DRD2 UNKNOWN
DRD2 UNKNOWN
Associated Disease
attention deficit hyperactivity disorder
Source Database
DisGeNET
Description
We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, and rs1799732), DRD4 (rs4646984 and rs4646983), and COMT (rs165599 and rs740603) in Indian ADHD subjects with comorbid attributes.
Pubmed
24163823
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.177807320451334
Year of publication
2013
Drugs