Annotation Detail

Information
Associated Genes
TPH1
Associated Variants
TPH1 MUTATION
TPH1 MUTATION
P2RX7 p.His34= (p.H34=) ( ENST00000328963.10 )
P2RX7 p.Gln460Arg (p.Q460R) ( ENST00000328963.10 )
HTR2A p.Val241Leu (p.V241L) ( ENST00000543956.5, ENST00000542664.4 )
HTR2A p.Val241Met (p.V241M) ( ENST00000542664.4, ENST00000543956.5 )
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
CRHR1 c.122-1309A>C, LINC02210-CRHR1 c.-404-1309A>C ( ENST00000314537.10, ENST00000577353.5, ENST00000580876.6, ENST00000398285.7, ENST00000634540.1, ENST00000352855.9 )
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 )
FKBP5 c.106-2636A>G ( ENST00000357266.9, ENST00000536438.5, ENST00000539068.5, ENST00000542713.1 )
P2RX7 p.His34= (p.H34=) ( ENST00000328963.10 )
P2RX7 p.Gln460Arg (p.Q460R) ( ENST00000328963.10 )
HTR2A p.Val241Leu (p.V241L) ( ENST00000542664.4, ENST00000543956.5 )
HTR2A p.Val241Met (p.V241M) ( ENST00000542664.4, ENST00000543956.5 )
HTR2A p.Ser34= (p.S34=) ( ENST00000542664.4, ENST00000543956.5 )
CRHR1 c.122-1309A>C, LINC02210-CRHR1 c.-404-1309A>C ( ENST00000314537.10, ENST00000352855.9, ENST00000398285.7, ENST00000577353.5, ENST00000580876.6, ENST00000634540.1 )
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 )
FKBP5 c.106-2636A>G ( ENST00000357266.9, ENST00000536438.5, ENST00000539068.5, ENST00000542713.1 )
Associated Disease
Mental Depression
Source Database
DisGeNET
Description
To investigate the possible relationship between genetic risk factors and depression in AD, we assessed genetic polymorphisms reported to be associated with depression (MAOA VNTR, ACE 288bp Insertion/ Deletion, 5HTTLPR, COMT Val158Met, BDNF Val66Met, TPH1 A218C, HTR2A T102C, P2RX7 Q460R, FKBP5 rs1360780 and CRHR1 rs242941) in a cross-sectional study on 246 AD patients with or without clinically significant major depressive disorder (MDD) according to DSM-IV.
Pubmed
23157339
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.026113296634743
Year of publication
2013
Drugs