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2 records shown · first 60Association of Collagen Gene (COL4A3) rs55703767 Variant With Response to Riboflavin/Ultraviolet A-Induced Collagen Cross-Linking in Female Patients With Keratoconus.
PMID 33079919 | DOI 10.1097/ICO.0000000000002489 · Cornea · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs7044529 | “PURPOSE: To investigate for the first time the association of collagen COL4A3 (rs55703767), COL5A1 (rs7044529), and COL4A4 (rs2229813) variants with response to corneal collagen cross-linking (CXL) with riboflavin and ultraviolet A in patients with keratoconus (KC).” | 0.90 | hgvs_regex_v1 |
| gene | COL4A3 | “Association of Collagen Gene (COL4A3) rs55703767 Variant With Response to Riboflavin/Ultraviolet A-Induced Collagen Cross-Linking in Female Patients With Keratoconus.” | 0.98 | hgnc_dict_v1 |
| gene | COL5A1 | “PURPOSE: To investigate for the first time the association of collagen COL4A3 (rs55703767), COL5A1 (rs7044529), and COL4A4 (rs2229813) variants with response to corneal collagen cross-linking (CXL) with riboflavin and ultraviolet A in patients with keratoconus (KC).” | 0.98 | hgnc_dict_v1 |
| gene | COL4A4 | “PURPOSE: To investigate for the first time the association of collagen COL4A3 (rs55703767), COL5A1 (rs7044529), and COL4A4 (rs2229813) variants with response to corneal collagen cross-linking (CXL) with riboflavin and ultraviolet A in patients with keratoconus (KC).” | 0.98 | hgnc_dict_v1 |
Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population.
PMID 26040312 | PMCID PMC4461978 | DOI 10.1186/s12952-015-0029-5 · Journal of negative results in biomedicine · 2015 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs7044529 | “However, we replicated the same trend of minor allele frequency (MAF) between cases and controls reported by a recent GWAS regarding the 5 SNPs rs4894535 (FNDC3B, chr3: 171995605), rs1536482 (RXRA-COL5A1, chr9: 137440528), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264), and rs2721051 (FOXO1, chr13: 41110884).” | 0.90 | hgvs_regex_v1 |
| gene | FNDC3B | “Association has recently been suggested between KC and 8 single nucleotide polymorphisms (SNPs) in the genomic regions of FNDC3B, COL4A3, MPDZ-NF1B, RXRA-COL5A1, LCN12-PTGDS, FOXO1, and BANP-ZNF469.” | 0.98 | hgnc_dict_v1 |
| gene | COL4A3 | “Association has recently been suggested between KC and 8 single nucleotide polymorphisms (SNPs) in the genomic regions of FNDC3B, COL4A3, MPDZ-NF1B, RXRA-COL5A1, LCN12-PTGDS, FOXO1, and BANP-ZNF469.” | 0.98 | hgnc_dict_v1 |
| gene | FOXO1 | “Association has recently been suggested between KC and 8 single nucleotide polymorphisms (SNPs) in the genomic regions of FNDC3B, COL4A3, MPDZ-NF1B, RXRA-COL5A1, LCN12-PTGDS, FOXO1, and BANP-ZNF469.” | 0.98 | hgnc_dict_v1 |