Annotation Detail
Information
- Associated Genes
- FDFT1
- Associated Variants
-
PNPLA3 p.Ile148Met (p.I148M)
(
ENST00000216180.8,
ENST00000423180.2 )
GCKR p.Leu446Pro (p.L446P) ( ENST00000264717.7 )
FDFT1 c.879+739A>C ( ENST00000220584.9, ENST00000443614.6, ENST00000525900.5, ENST00000525954.5, ENST00000528643.5, ENST00000528812.5, ENST00000530337.6, ENST00000530664.5, ENST00000615631.4, ENST00000622850.3 )
FDFT1 c.879+739A>G ( ENST00000530664.5, ENST00000528643.5, ENST00000525954.5, ENST00000443614.6, ENST00000525900.5, ENST00000528812.5, ENST00000220584.9, ENST00000530337.6, ENST00000615631.4, ENST00000622850.3 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
GCKR p.Leu446Pro (p.L446P) ( ENST00000264717.7 )
FDFT1 c.879+739A>C ( ENST00000220584.9, ENST00000443614.6, ENST00000525900.5, ENST00000525954.5, ENST00000528643.5, ENST00000528812.5, ENST00000530337.6, ENST00000530664.5, ENST00000615631.4, ENST00000622850.3 )
FDFT1 c.879+739A>G ( ENST00000220584.9, ENST00000443614.6, ENST00000525900.5, ENST00000525954.5, ENST00000528643.5, ENST00000528812.5, ENST00000530337.6, ENST00000530664.5, ENST00000615631.4, ENST00000622850.3 ) - Associated Disease
- Nonalcoholic Steatohepatitis
- Source Database
- DisGeNET
- Description
- Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic resonance imaging and circulating levels of cytokeratin-18 (CK-18) fragments, a robust NASH biomarker, and to explore the impact on this association of ethnicity, insulin resistance, and single nucleotide polymorphisms (SNPs) associated with steatosis (rs738409 in the PNPLA3, rs1260326 in the GCKR) or NASH severity (rs2645424 in the FDFT1).
- Pubmed
- 23275357
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs