Annotation Detail
Information
- Associated Genes
- MMP3
- Associated Variants
-
MMP3 MUTATION
MMP3 MUTATION
MMP3 p.Lys45Glu (p.K45E) ( ENST00000299855.10 )
APOE p.Lys19Glu (p.K19E) ( ENST00000252486.9 )
SH2D2A p.Glu73Ter (p.E73*) ( ENST00000368199.8, ENST00000392306.2, ENST00000368198.7 )
SH2D2A p.Glu73Lys (p.E73K) ( ENST00000368198.7, ENST00000392306.2, ENST00000368199.8 )
COL3A1 p.Ile1205Val (p.I1205V) ( ENST00000304636.9, ENST00000450867.2, ENST00000713744.1, ENST00000713745.1 )
SCAP p.Val798Ile (p.V798I) ( ENST00000265565.10, ENST00000648151.1 )
MMP3 p.Lys45Glu (p.K45E) ( ENST00000299855.10 )
APOE p.Lys19Glu (p.K19E) ( ENST00000252486.9 )
SH2D2A p.Glu73Ter (p.E73*) ( ENST00000368198.7, ENST00000368199.8, ENST00000392306.2 )
SH2D2A p.Glu73Lys (p.E73K) ( ENST00000368198.7, ENST00000368199.8, ENST00000392306.2 )
COL3A1 p.Ile1205Val (p.I1205V) ( ENST00000304636.9, ENST00000450867.2, ENST00000713744.1, ENST00000713745.1 )
SCAP p.Val798Ile (p.V798I) ( ENST00000265565.10, ENST00000648151.1 ) - Associated Disease
- Chronic Kidney Diseases
- Source Database
- DisGeNET
- Description
- The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as well as a stepwise forward selection procedure revealed that ten different polymorphisms were associated (P<0.05) with the prevalence of CKD in high- or low-risk subjects: the -519Aright curved arrow G polymorphism of MMP1, the 1061Aright curved arrow G (Ile405Val) polymorphism of CETP, the Aright curved arrow G (Lys45Glu) polymorphism of MMP3, the -219Gright curved arrow T polymorphism of APOE, the Aright curved arrow G (Ile1205Val) polymorphism of COL3A1, the -863Cright curved arrow A polymorphism of TNF, and the 1454Cright curved arrow G (Leu125Val) polymorphism of PECAM1 in high-risk subjects; and the 1167Cright curved arrow T (Asn389Asn) polymorphism of TGFBR2, the 2386Aright curved arrow G (Ile796Val) polymorphism of SCAP, and the TAAAright curved arrow del polymorphism of PDE4D in low-risk subjects.
- Year of publication
- 2009
- Pubmed
- 19424605
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs