PubMed:24892565
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 24892565-9#55#64#geners3825942 | 1543-1552 | geners3825942 | denotes | rs3825942 |
| 24892565-9#84#87#diseaseC0206368 | 1572-1575 | diseaseC0206368 | denotes | XFS |
| 24892565-9#88#91#diseaseC0206368 | 1576-1579 | diseaseC0206368 | denotes | XFG |
| 55#64#geners382594284#87#diseaseC0206368 | 24892565-9#55#64#geners3825942 | 24892565-9#84#87#diseaseC0206368 | associated_with | rs3825942,XFS |
| 55#64#geners382594288#91#diseaseC0206368 | 24892565-9#55#64#geners3825942 | 24892565-9#88#91#diseaseC0206368 | associated_with | rs3825942,XFG |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 24892565-0#15#35#gene4016 | 15-35 | gene4016 | denotes | lysyl oxidase-like 1 |
| 24892565-0#58#84#diseaseC0206368 | 141-614 | diseaseC0206368 | denotes | PURPOSE: To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG). MATERIALS AND METHODS: The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) we |
| 24892565-0#89#115#diseaseC0206368 | 697-1452 | diseaseC0206368 | denotes | P rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p = 3.36 × 10(-5), OR = 5.71, 95% CI: 2.30-14.18; p = 3.38 × 10(-5), OR = 6.91, 95% CI: 2.51-19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p = 2.50 × 10(-4), OR = 2.18, 95% CI: 1.43-3.33; p = 1.21 × 10(-2), OR = 2.13, 95% CI: 1.75-3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were simila |
| 15#35#gene401658#84#diseaseC0206368 | 24892565-0#15#35#gene4016 | 24892565-0#58#84#diseaseC0206368 | associated_with | lysyl oxidase-like 1,"PURPOSE: To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG). MATERIALS AND METHODS: The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) we" |
| 15#35#gene401689#115#diseaseC0206368 | 24892565-0#15#35#gene4016 | 24892565-0#89#115#diseaseC0206368 | associated_with | lysyl oxidase-like 1,"P rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p = 3.36 × 10(-5), OR = 5.71, 95% CI: 2.30-14.18; p = 3.38 × 10(-5), OR = 6.91, 95% CI: 2.51-19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p = 2.50 × 10(-4), OR = 2.18, 95% CI: 1.43-3.33; p = 1.21 × 10(-2), OR = 2.13, 95% CI: 1.75-3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were simila" |
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | resolved_to |
|---|---|---|---|---|---|
| 50 | 575-584 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
| 51 | 586-595 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| 52 | 601-610 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| 53 | 699-708 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| 55 | 969-978 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| 58 | 1236-1245 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
| 63 | 1543-1552 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| 64 | 1557-1566 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| 68 | 1658-1667 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
PubTatorOnTogoVar
| Id | Subject | Object | Predicate | Lexical cue | resolved_to |
|---|---|---|---|---|---|
| 50 | 575-584 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
| 51 | 586-595 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| 52 | 601-610 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| 53 | 699-708 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| 55 | 969-978 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| 58 | 1236-1245 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
| 63 | 1543-1552 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| 64 | 1557-1566 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| 68 | 1658-1667 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
| T1 | 575-584 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
| T2 | 586-595 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| T3 | 601-610 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| T4 | 699-708 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| T5 | 969-978 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| T6 | 1236-1245 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |
| T7 | 1543-1552 | SNP | denotes | rs3825942 | tmVar:rs3825942;VariantGroup:1;CorrespondingGene:4016;RS#:3825942;CorrespondingSpecies:9606 |
| T8 | 1557-1566 | SNP | denotes | rs2165241 | tmVar:rs2165241;VariantGroup:2;CorrespondingGene:4016;RS#:2165241;CorrespondingSpecies:9606 |
| T9 | 1658-1667 | SNP | denotes | rs1048661 | tmVar:rs1048661;VariantGroup:0;CorrespondingGene:4016;RS#:1048661;CorrespondingSpecies:9606 |