Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.420 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.420 AlteredExpression disease BEFREE Messenger RNA levels of SCO2 were significantly downregulated in myopic mouse retinae. 23643385 2013
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.420 GeneticVariation disease BEFREE The MYP6 locus is likely to contain susceptibility gene(s) for myopia, but none has yet been identified. 22792142 2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.420 GeneticVariation disease BEFREE Association studies have revealed that the rs1635529 polymorphism in the COL2A1 (collagen, type Ⅱ, α 1) gene may be a potential candidate for myopia development and may be associated with myopia in Caucasians. 21993774 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.420 GeneticVariation disease BEFREE COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. 19387081 2009
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.420 Biomarker disease CTD_human SNPs were also analyzed in genes where their expression pattern or their association with syndromes conveys myopia as part of the phenotype (FGF2, BDNF, COL2A1, COL18A1, and PAX6). 17653045 2007
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.420 Biomarker disease HPO
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.420 GermlineCausalMutation disease ORPHANET
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
0.420 Biomarker disease HPO
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.410 GeneticVariation disease CLINVAR Clinical Characterization of LRPAP1-Related Pediatric High Myopia. 26271838 2016
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.410 GeneticVariation disease CLINVAR Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 25525168 2015
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.410 GeneticVariation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.410 GeneticVariation disease BEFREE We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely causal mutations. 23830514 2013
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.410 GeneticVariation disease CLINVAR We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely causal mutations. 23830514 2013
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
0.410 GermlineCausalMutation disease ORPHANET
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
0.400 Biomarker disease CTD_human A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 16909383 2006
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
0.400 Biomarker disease HPO
Entrez Id: 57369
Gene Symbol: GJD2
GJD2
0.350 Biomarker disease BEFREE This study aimed to assess heritability of myopia in Lithuania and evaluate both genes GJD2 (Gap Junction Protein, Delta 2) and RASGRF1 (RAS protein-specific guanine nucleotide-releasing factor 1) relation with myopia. 29793445 2018
Entrez Id: 57369
Gene Symbol: GJD2
GJD2
0.350 GeneticVariation disease BEFREE We identify WNT7B as a novel susceptibility gene for axial length (rs10453441, Pmeta=3.9 × 10(-13)) and corneal curvature (Pmeta=2.9 × 10(-40)) and confirm the previously reported association between GJD2 and myopia. 25823570 2016
Entrez Id: 57369
Gene Symbol: GJD2
GJD2
0.350 Biomarker disease BEFREE Sanger sequencing of GJD2 in an additional 395 subjects with loMHM and 403 healthy controls did not identify myopia-associated variants. 25587058 2015
Entrez Id: 57369
Gene Symbol: GJD2
GJD2
0.350 GeneticVariation disease BEFREE Three genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)). 24014484 2014
Entrez Id: 57369
Gene Symbol: GJD2
GJD2
0.350 Biomarker disease CTD_human Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
Entrez Id: 57369
Gene Symbol: GJD2
GJD2
0.350 GeneticVariation disease BEFREE To investigate the association with ocular biometric parameters in myopia-associated single nucleotide polymorphisms (SNPs) of the gap junction protein delta 2 (GJD2), insulin-like growth factor-1 (IGF1) and hepatocyte growth factor (HGF) genes in two geographically different Chinese cohorts. 22509107 2012
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1
0.320 Biomarker disease BEFREE Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania. 29793445 2018
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
0.320 GeneticVariation disease BEFREE Transcripts of Prss56, a gene associated with angle-closure glaucoma, posterior microphthalmia and myopia, were increased in Mfrprd6 eyes by 17-fold. 25357075 2015