Annotation Detail
Information
- Associated Genes
- GCKR
- Associated Variants
-
NCAN p.Pro92Thr (p.P92T)
(
ENST00000252575.11 )
NCAN p.Pro92Ser (p.P92S) ( ENST00000252575.11 )
rs12137855
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
rs4240624
NCAN p.Pro92Thr (p.P92T) ( ENST00000252575.11 )
NCAN p.Pro92Ser (p.P92S) ( ENST00000252575.11 )
rs12137855
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
rs4240624 - Associated Disease
- Steatohepatitis
- Source Database
- DisGeNET
- Description
- We investigated whether ultrasound-measured HS, with and without increased levels of alanine aminotransferase (ALT), or level of ALT alone, was associated with rs738409 (patatin-like phospholipase domain-containing protein 3 [PNPLA3]), rs2228603 (neurocan [NCAN]), rs12137855 (lysophospholipase-like 1), rs780094 (glucokinase regulatory protein [GCKR]), and rs4240624 (protein phosphatase 1, regulatory subunit 3b [PPP1R3B]) using regression modeling in an additive genetic model, controlling for age, age-squared, sex, and alcohol consumption.
- Pubmed
- 23416328
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2013
Drugs