Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 GeneticVariation disease CLINVAR
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 CausalMutation disease CLINVAR
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 Biomarker disease CTD_human
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
0.500 Biomarker disease CTD_human
Entrez Id: 5617
Gene Symbol: PRL
PRL
0.010 Biomarker disease BEFREE DES significantly reduced the immunohistochemical signal for acetylated histone H3 at lysine 9 (H3K9ac) in PRL, LH and FSH cells, but not for H3K18ac or H3K23ac. 30511269 2019
Entrez Id: 9734
Gene Symbol: HDAC9
HDAC9
0.010 Biomarker disease BEFREE DES-treated mice were injected intraperitoneally with HDAC inhibitors (HDACi), sodium phenylbutyrate (NaPB) or valproic acid (VPA), to mimic the acetylation level of histone H3. 30511269 2019
Entrez Id: 54106
Gene Symbol: TLR9
TLR9
0.010 AlteredExpression disease BEFREE TLR9 mRNA was significantly down-regulated by almost 59.5% in DES subjects. 25817729 2015
Entrez Id: 6464
Gene Symbol: SHC1
SHC1
0.010 Biomarker disease BEFREE Among the differentially regulated proteins of DES-RA that were identified, lactotransferrin isoform 1 precursor was found to be d own-regulated in 100% cases and SHC transforming 1 isoform in 63% of the cases, while proteins such as ribonuclease p protein subunit 20, protocadherin, and heterogeneous nuclear ribonucleoprotein Q isoform 6 were down-regulated in over 80% of the cases. 27789276 2017
Entrez Id: 10492
Gene Symbol: SYNCRIP
SYNCRIP
0.010 Biomarker disease BEFREE Among the differentially regulated proteins of DES-RA that were identified, lactotransferrin isoform 1 precursor was found to be d own-regulated in 100% cases and SHC transforming 1 isoform in 63% of the cases, while proteins such as ribonuclease p protein subunit 20, protocadherin, and heterogeneous nuclear ribonucleoprotein Q isoform 6 were down-regulated in over 80% of the cases. 27789276 2017
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
0.500 Biomarker disease MGD Aromatic amino acid metabolism in the wabbler-lethal mouse. 4388883 1969
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 GeneticVariation disease BEFREE Both treatments increased the levels of all three splice variants of VEGF mRNA and a maximum increase was detected with 10 microM concentrations of PDB or DES treatments after 2 h. Interestingly, both PDB and DES mediated stimulation of VEGF mRNA expression was completely blocked by the PKC inhibitor chelerythrine. 10772888 2000
Entrez Id: 7504
Gene Symbol: XK
XK
0.010 Biomarker disease BEFREE C-NAC could be a viable treatment option for DES. 28441068 2017
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
0.010 Biomarker disease BEFREE C-NAC could be a viable treatment option for DES. 28441068 2017
Entrez Id: 767
Gene Symbol: CA8
CA8
0.210 Biomarker disease MGD Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. 16118194 2005
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 Biomarker disease GENOMICS_ENGLAND Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 18364738 2008
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
0.010 Biomarker disease BEFREE Compared to controls, alcohol consumption was inversely associated with NHL, DES, and SS (odds ratio (OR) = 0.47, 95% confidence interval (CI): 0.31-0.71; OR = 0.54, 95% CI: 0.33-0.88; and OR = 0.26, 95% CI: 0.14-0.49, respectively), while a previous history of infection requiring hospitalization was positively associated with all three conditions: NHL (OR = 1.92; 95% CI: 1.23-2.99), DES (OR = 3.29; 95% CI: 1.97-5.47), and SS (OR = 4.74; 95% CI: 2.66-8.44). 30805374 2019
Entrez Id: 4586
Gene Symbol: MUC5AC
MUC5AC
0.020 AlteredExpression disease BEFREE Expressions of MUC1, MUC2, MUC4, and MUC5AC (P < 0.0001) were significantly lower in conjunctival epithelium of patients with DES compared with that in normal subjects. 21931132 2011
Entrez Id: 3346
Gene Symbol: HTN1
HTN1
0.010 AlteredExpression disease BEFREE Future studies will be performed to use these cell markers to isolate and culture lacrimal epithelial cells from heterogeneous tissues, determine the relevance of histatin-1 expression to DES, and isolate candidate precursor cells from ALG tissue. 27612554 2017
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
0.500 Biomarker disease MGD Genetic and age related models of neurodegeneration in mice: dystrophic axons. 1634998 1992
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 GeneticVariation disease BEFREE Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 16080122 2005
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 Biomarker disease GENOMICS_ENGLAND Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 16080122 2005
Entrez Id: 2252
Gene Symbol: FGF7
FGF7
0.010 AlteredExpression disease BEFREE However, chronic treatment with DES significantly increased KGF mRNA levels and protein production. 9869450 1998
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 GeneticVariation disease BEFREE Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 18043714 2008
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.020 Biomarker disease BEFREE In particular, we demonstrated that 5 strongly binds (18.0nM±2.5nM) MMP-9, the most relevant MMP responsible of ocular surface damages in induced dry eyes syndrome (DES). 27914947 2017