Annotation Detail

Information
Associated Genes
COMT
Associated Variants
MAPT c.*26T>C ( ENST00000262410.10, ENST00000344290.10, ENST00000351559.10, ENST00000420682.7, ENST00000446361.7, ENST00000535772.6, ENST00000680674.1 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
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 )
MAPT c.*26T>C ( ENST00000262410.10, ENST00000344290.10, ENST00000351559.10, ENST00000420682.7, ENST00000446361.7, ENST00000535772.6, ENST00000680674.1 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
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 )
Associated Disease
Cognitive changes
Source Database
DisGeNET
Description
Patients were also genotyped for three polymorphisms associated with cognitive change in Parkinson's disease and related disorders: (i) rs4680 for COMT Val158Met polymorphism; (ii) rs9468 for MAPT H1 versus H2 haplotype; and (iii) rs429358 for APOE-ε2, 3, 4.
Pubmed
25080285
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2014
Drugs