Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		0.020 GeneticVariation phenotype BEFREE One patient with homozygous deletion from exon 23 to 32 in USH2A suffered early visual symptoms. 29142287 2017
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		0.020 GeneticVariation phenotype BEFREE To report two members of the same family carrying the valine to isoleucine point mutation of the prion protein gene (PRNP) and presenting with visual symptoms as initial manifestation as in the "Heidenhain variant" of sporadic Creutzfeldt-Jakob disease (CJD). 26268049 2016
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		0.020 Biomarker phenotype BEFREE In contrast, three cases of the MM 2C or MM 2+1C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of "probable" CJD of both 14-3-3 and t-tau. 26682685 2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		0.020 GeneticVariation phenotype BEFREE USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. 25743181 2015
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		0.010 Biomarker phenotype BEFREE Autoantibodies against TRPM1 are present in CMM patient sera without self-reported visual symptoms. 31117125 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		0.010 Biomarker phenotype BEFREE VEGF e PDGF showed a less constant pattern, but an increase of VEGF concentration antedated visual symptoms. 29946742 2018
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3 		0.010 Biomarker phenotype BEFREE Cross-reactivity with TRPM3 in the RPE may account for other visual symptoms that are experienced by some MAR patients such as retinal and RPE detachments. 28549093 2017
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		0.010 GeneticVariation phenotype BEFREE USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. 25743181 2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		0.010 GeneticVariation phenotype BEFREE This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. 23237960 2013
Entrez Id: 22974
Gene Symbol: TPX2
TPX2 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 4940
Gene Symbol: OAS3
OAS3 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 84164
Gene Symbol: ASCC2
ASCC2 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 1523
Gene Symbol: CUX1
CUX1 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 6490
Gene Symbol: PMEL
PMEL 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 27044
Gene Symbol: SND1
SND1 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 9733
Gene Symbol: SART3
SART3 		0.010 GeneticVariation phenotype BEFREE Prolonged P100 peak latency of the visual evoked potentials (VEPs) were found in 16 patients (94.1%) in the early stage even without visual symptoms. 19473359 2009
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.010 GeneticVariation phenotype BEFREE The retinal and functional changes in the father carrying a presumed functional null allele suggest that some RPE65 heterozygous carriers may manifest visual symptoms. 11786058 2002
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		0.010 Biomarker phenotype BEFREE These results emphasize the localised nature of functional deficits in some patients with EFEMP1 retinal dystrophy and correlate well with the patient's visual symptoms. 11913893 2002