Annotation Detail
Information
- Associated Genes
- CPS1
- Associated Variants
-
CPS1 MUTATION
CPS1 MUTATION - Associated Disease
- Chronic Kidney Diseases
- Source Database
- DisGeNET
- Description
- Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3).
- Pubmed
- 20383146
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- 2010
Drugs