Annotation Detail

Information
Associated Genes
ACE
Associated Variants
GRK4 p.Val486Ala (p.V486A) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala533Val (p.A533V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Val486Ala (p.V486A) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala533Val (p.A533V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
Associated Disease
obesity
Source Database
DisGeNET
Description
Among girls, the obesity risk increased in GRK4 A486V heterozygote and CYP11β-2 mutant homozygote although sodium intake was relatively lower, implying that ACE, SLC12A, CYP11β-2, and GRK4 A486V polymorphisms showed gender-based differences with regard to interaction between sodium intake and obesity.
Pubmed
25768006
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.139208137073453
Year of publication
2015
Drugs