Annotation Detail

Information
Associated Genes
CPS1
Associated Variants
CPS1 p.Thr1406Asn (p.T1406N) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 )
CPS1 p.Thr1406Asn (p.T1406N) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 )
Associated Disease
Creatinine finding
Source Database
DisGeNET
Description
[New loci associated with kidney function and chronic kidney disease.]
Pubmed
20383146
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00236703197860203
Year of publication
2010
Drugs