Annotation Detail
Information
- Associated Genes
- ATXN2
- Associated Variants
-
ATXN2 c.252-14033G>A
(
ENST00000672613.1,
ENST00000535949.5,
ENST00000673283.1,
ENST00000673436.1,
ENST00000542287.6,
ENST00000616825.4,
ENST00000550104.5,
ENST00000673449.1,
ENST00000647305.1,
ENST00000673557.1,
ENST00000644883.1,
ENST00000643669.2,
ENST00000389153.10,
ENST00000608853.5 )
ATXN2 c.252-14033G>A ( ENST00000389153.10, ENST00000535949.5, ENST00000542287.6, ENST00000550104.5, ENST00000608853.5, ENST00000616825.4, ENST00000643669.2, ENST00000644883.1, ENST00000647305.1, ENST00000672613.1, ENST00000673283.1, ENST00000673436.1, ENST00000673449.1, ENST00000673557.1 ) - 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