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: 51761
Gene Symbol: ATP8A2
ATP8A2
0.500 Biomarker disease MGD Aromatic amino acid metabolism in the wabbler-lethal mouse. 4388883 1969
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
0.500 Biomarker disease MGD Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. 1382814 1992
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: 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: 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: 4193
Gene Symbol: MDM2
MDM2
0.010 AlteredExpression disease BEFREE The RT-PCR results clearly showed that mdm2 mRNA expression was increased with increasing concentrations of PDB and DES treatments. 12231395 2002
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: 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 Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 18326629 2008
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: 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: 7436
Gene Symbol: VLDLR
VLDLR
0.680 GeneticVariation disease BEFREE Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 19332571 2009
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 GeneticVariation disease BEFREE None of our patients had VLDLR mutations or MRI findings characteristic of DES-VLDLR. 20199520 2011
Entrez Id: 767
Gene Symbol: CA8
CA8
0.210 GeneticVariation disease BEFREE We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene. 21812104 2011
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: 4582
Gene Symbol: MUC1
MUC1
0.010 AlteredExpression disease BEFREE The data strongly suggest that the expression levels of MUC1 may be used as a diagnostic test in DES for investigational and selective clinical trials. 21931132 2011
Entrez Id: 4589
Gene Symbol: MUC7
MUC7
0.010 Biomarker disease BEFREE To evaluate mRNA levels of the ocular mucins MUC1, MUC2, MUC4, MUC5AC, and MUC7 in conjunctival impression cytology samples from patients with moderate to severe dry eye syndrome (DES) compared with a population of healthy subjects; and to investigate the use of the levels of these mucin genes as biomarkers of DES and subsequently as a potential diagnostic test for DES. 21931132 2011
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
0.010 Biomarker disease BEFREE To evaluate mRNA levels of the ocular mucins MUC1, MUC2, MUC4, MUC5AC, and MUC7 in conjunctival impression cytology samples from patients with moderate to severe dry eye syndrome (DES) compared with a population of healthy subjects; and to investigate the use of the levels of these mucin genes as biomarkers of DES and subsequently as a potential diagnostic test for DES. 21931132 2011
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.680 GeneticVariation disease BEFREE It remains to be determined whether these findings are consistent in other forms of CAMRQ with mutations in VLDLR or CA8. 22686558 2012