Annotation Detail

Information
Associated Genes
AGT
Associated Variants
ACE c.1488-58T>C ( ENST00000428043.5, ENST00000290866.10 )
ENSG00000264813 p.Thr202= (p.T202=), ACE p.Thr776= (p.T776=) ( ENST00000290863.10, ENST00000413513.7, ENST00000290866.10, ENST00000428043.5 )
AGT p.Met259Thr (p.M259T) ( ENST00000679957.1, ENST00000681514.1, ENST00000680041.1, ENST00000680783.1, ENST00000681269.1, ENST00000679684.1, ENST00000366667.6 )
ACE c.1488-58T>C ( ENST00000290866.10, ENST00000428043.5 )
ENSG00000264813 p.Thr202= (p.T202=), ACE p.Thr776= (p.T776=) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 )
AGT p.Met259Thr (p.M259T) ( ENST00000366667.6, ENST00000679684.1, ENST00000679957.1, ENST00000680041.1, ENST00000680783.1, ENST00000681269.1, ENST00000681514.1 )
Associated Disease
Kidney Diseases
Source Database
DisGeNET
Description
ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant genotypes increased the risk of DNP development fourfold (p < 0.01).
Pubmed
19108684
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.152975288306871
Year of publication
2009
Drugs