ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782591769
rs782591769
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE Some 424 patients with a small AAA (4.0-5.5 cm) were monitored for AAA growth by ultrasonography and provided a DNA sample for analysis of the + 148 G > A polymorphism in the cystatin C signal peptide and the-82 G > C polymorphism in the gene promoter. 14716800 2004
dbSNP: rs1419338705
rs1419338705
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE We determined the polymorphism of the MTHFR (methylenetetrahydrofolate reductase) gene within the fourth exon (C677T) in 63 patients with AAA and compared it to that in 75 subjects of the population sample. 12590185 2003