Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23237
Gene Symbol: ARC
ARC
0.010 Biomarker disease BEFREE In this prospective population-based cohort study, 5-year changes in Belin grading system indices including the average radii of curvature in the 3 mm zone surrounding the thinnest point in the anterior (ARC-3 mm) and posterior (PRC-3 mm) cornea, corrected distance visual acuity, minimum corneal thickness, maximum Ambrosio's relational thickness (ART-max), and maximum anterior keratometry indices centered on steepest point in the central 3 mm (Kmax-3 mm), 4 mm (Kmax-4 mm), and 5 mm (Kmax-5 mm) zones were compared between keratoconus and normal participants. 31701363 2020
Entrez Id: 6369
Gene Symbol: CCL24
CCL24
0.010 Biomarker disease BEFREE The tear eotaxin-2 did not exhibit any difference in the presence of keratoconus. 31363950 2020
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
0.010 GeneticVariation disease BEFREE The other loci were associated with keratoconus using TwinsUK (OR per effect allele for ADAMTS8, 0.51 [95% CI, 0.37-0.71; P = 7.9 × 10-5]; for COL6A1, 1.65 [95% CI, 1.05-2.59; P = .03]) or EPIC-Norfolk (OR per effect allele for ANAPC1, 0.78 [95% CI, 0.68-0.89; P = 3.7 × 10-4]; for ADAMTS17, 0.82 [95% CI, 0.68-0.99; P = .04]) controls. 31246245 2019
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
0.010 Biomarker disease BEFREE This study is a retrospective study including 771 eyes of 474 patients operated for keratoconus or ectasia after LASIK between January 2010 and June 2017 at Beirut Eye & ENT Specialist hospital. 30601287 2019
Entrez Id: 7473
Gene Symbol: WNT3
WNT3
0.010 Biomarker disease BEFREE Particularly interesting were the DNA methylation changes in WNT3 and WNT5A encoding Wnt ligands, as they provide a potential explanation for the Wnt signaling pathway dysregulation observed in KTCN. 30994860 2019
Entrez Id: 100885803
Gene Symbol: KTCN8
KTCN8
0.010 GeneticVariation disease BEFREE At presentation, 11 eyes (31%) were classified as stage 1 keratoconus; 14 eyes (40%) were classified as stage 2 keratoconus, 8 eyes (23%) were classified as stage 3 keratoconus, and 2 eyes (6%) were classified as stage 4 keratoconus. 31033692 2019
Entrez Id: 11095
Gene Symbol: ADAMTS8
ADAMTS8
0.010 GeneticVariation disease BEFREE The other loci were associated with keratoconus using TwinsUK (OR per effect allele for ADAMTS8, 0.51 [95% CI, 0.37-0.71; P = 7.9 × 10-5]; for COL6A1, 1.65 [95% CI, 1.05-2.59; P = .03]) or EPIC-Norfolk (OR per effect allele for ANAPC1, 0.78 [95% CI, 0.68-0.89; P = 3.7 × 10-4]; for ADAMTS17, 0.82 [95% CI, 0.68-0.99; P = .04]) controls. 31246245 2019
Entrez Id: 170691
Gene Symbol: ADAMTS17
ADAMTS17
0.010 GeneticVariation disease BEFREE The other loci were associated with keratoconus using TwinsUK (OR per effect allele for ADAMTS8, 0.51 [95% CI, 0.37-0.71; P = 7.9 × 10-5]; for COL6A1, 1.65 [95% CI, 1.05-2.59; P = .03]) or EPIC-Norfolk (OR per effect allele for ANAPC1, 0.78 [95% CI, 0.68-0.89; P = 3.7 × 10-4]; for ADAMTS17, 0.82 [95% CI, 0.68-0.99; P = .04]) controls. 31246245 2019
Entrez Id: 55083
Gene Symbol: KIF26B
KIF26B
0.010 GeneticVariation disease BEFREE Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population. 31077021 2019
Entrez Id: 6277
Gene Symbol: S100A6
S100A6
0.010 Biomarker disease BEFREE The purpose of this work was to analyze the expressions of matrix metalloproteinase 9 (MMP-9), calcyclin (S100A6), and cystatin S (CST4) in the tears of keratoconus (KC) patients. 30804658 2019
Entrez Id: 23460
Gene Symbol: ABCA6
ABCA6
0.010 GeneticVariation disease BEFREE The ABCA6 locus (rs77542162) was associated with keratoconus using the TwinsUK (odds ratio [OR], 0.50; 95% CI, 0.27-0.92; P = .03) and EPIC-Norfolk controls (OR, 0.39; 95% CI, 0.22-0.70; P = .002). 31246245 2019
Entrez Id: 2185
Gene Symbol: PTK2B
PTK2B
0.010 Biomarker disease BEFREE Long-term Comparison of Combined t-PTK and CXL (Cretan Protocol) Versus CXL With Mechanical Epithelial Debridement for Keratoconus. 31610006 2019
Entrez Id: 101928677
Gene Symbol: ETDA
ETDA
0.010 Biomarker disease BEFREE It is a prospective interventional study, which is based on 41 eyes of 23 patients, suffering from progressive keratoconus and treated with trans-epithelial corneal cross-linking, using iontophoresis with ETDA and trometamol-enriched riboflavin 5 phosphates 0.1% hypotonic solution (Ricrolin+, Soot Italia SpA, Italy). 29675563 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.010 Biomarker disease BEFREE To evaluate intra-subject repeatability of anterior segment optical coherence tomography (AS-OCT) combined with placido disc MS-39 (CSO, Firenze, Italy) and correlate epithelial thickness measurements and the degree of visual limitation in keratoconus patients. 30689987 2019
Entrez Id: 79623
Gene Symbol: GALNT14
GALNT14
0.010 Biomarker disease BEFREE As alterations of mucin's glycosylation are linked to a number of eye diseases, we demonstrate in this study an association between the truncated protein GALNT14 and KC. 31362688 2019
Entrez Id: 4314
Gene Symbol: MMP3
MMP3
0.010 AlteredExpression disease BEFREE Finally, reduced expression of MMP3 was detected in keratoconus patients. 31022731 2019
Entrez Id: 3163
Gene Symbol: HMOX2
HMOX2
0.010 Biomarker disease BEFREE The HO-2 enzyme may play a role in the etiopathogenesis of keratoconus. 30196728 2019
Entrez Id: 1472
Gene Symbol: CST4
CST4
0.010 Biomarker disease BEFREE The purpose of this work was to analyze the expressions of matrix metalloproteinase 9 (MMP-9), calcyclin (S100A6), and cystatin S (CST4) in the tears of keratoconus (KC) patients. 30804658 2019
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
0.010 Biomarker disease BEFREE Particularly interesting were the DNA methylation changes in WNT3 and WNT5A encoding Wnt ligands, as they provide a potential explanation for the Wnt signaling pathway dysregulation observed in KTCN. 30994860 2019
Entrez Id: 64682
Gene Symbol: ANAPC1
ANAPC1
0.010 GeneticVariation disease BEFREE The other loci were associated with keratoconus using TwinsUK (OR per effect allele for ADAMTS8, 0.51 [95% CI, 0.37-0.71; P = 7.9 × 10-5]; for COL6A1, 1.65 [95% CI, 1.05-2.59; P = .03]) or EPIC-Norfolk (OR per effect allele for ANAPC1, 0.78 [95% CI, 0.68-0.89; P = 3.7 × 10-4]; for ADAMTS17, 0.82 [95% CI, 0.68-0.99; P = .04]) controls. 31246245 2019
Entrez Id: 3162
Gene Symbol: HMOX1
HMOX1
0.010 Biomarker disease BEFREE The aim of the present study was to examine whether activation of the nuclear factor E2‑related factor 2 (Nrf‑2)/heme oxygenase‑1 (HO‑1) antioxidant pathway in the cornea was involved in the protective effect of sulforaphane (SF) following keratoconus (KC) injury. 30106111 2018
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.010 Biomarker disease BEFREE Our study highlighted the potential roles of several genes (CTGF, SFRP1, AQP5, lnc-WNT4-2:1, and lnc-ALDH3A2-2:1) and pathways (TGF-β, WNT signaling, and PI3K/AKT pathways) in KC pathogenesis. 29860458 2018
Entrez Id: 55739
Gene Symbol: NAXD
NAXD
0.010 Biomarker disease BEFREE In particular, showing the presence of ATP-dependent NAD(P)H-hydrate dehydratase that eliminates NADHX would strengthen our findings and would be a major step toward understanding KC. 28785876 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 Biomarker disease BEFREE Our study highlighted the potential roles of several genes (CTGF, SFRP1, AQP5, lnc-WNT4-2:1, and lnc-ALDH3A2-2:1) and pathways (TGF-β, WNT signaling, and PI3K/AKT pathways) in KC pathogenesis. 29860458 2018
Entrez Id: 51083
Gene Symbol: GAL
GAL
0.010 AlteredExpression disease BEFREE Ultrastructural analysis of keratocytes showed a marked increase of endogenous Gal-3 levels, but not Gal-1, in KC. 29439091 2018