Annotation Detail

Information
Associated Genes
HTR2C
Associated Variants
HTR2C p.Cys23= (p.C23=) ( ENST00000276198.6, ENST00000371950.3, ENST00000371951.5 )
HTR2C p.Ser23Cys (p.S23C) ( ENST00000276198.6, ENST00000371950.3, ENST00000371951.5 )
Associated Disease
Pituitary Diseases
Source Database
DisGeNET
Description
Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (SNP), rs6318 on the HTR2C gene located on the X-chromosome, is associated with hypothalamic-pituitary-adrenal axis response to a laboratory stress recall task.
Pubmed
25457638
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2014
Drugs