×
Entrez Id:
7436
Gene Symbol:
VLDLR
VLDLR
0.680
Biomarker
disease
GENOMICS_ENGLAND
×
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
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
CLINVAR
×
Entrez Id:
7436
Gene Symbol:
VLDLR
VLDLR
0.680
GeneticVariation
disease
BEFREE
Previously we have reported that missense mutations in the Very Low Density Lipoprotein Receptor gene (VLDLR), causing Dysequilibrium syndrome (DES), disrupt ligand-binding, due to endoplasmic reticulum (ER) retention of the mutants.
29371607
2018
×
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
×
Entrez Id:
7436
Gene Symbol:
VLDLR
VLDLR
0.680
CausalMutation
disease
CLINVAR
×
Entrez Id:
7436
Gene Symbol:
VLDLR
VLDLR
0.680
GeneticVariation
disease
BEFREE
We have delineated the phenotype associated with dysequilibrium syndrome in two Omani families and identified the first homozygous missense pathogenic mutation in VLDLR gene with likely founder effect in the southeastern part of the Arabian Peninsula.
22973972
2012
×
Entrez Id:
7436
Gene Symbol:
VLDLR
VLDLR
0.680
Biomarker
disease
CTD_human
×
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
None of our patients had VLDLR mutations or MRI findings characteristic of DES-VLDLR .
20199520
2011
×
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
GeneticVariation
disease
BEFREE
We report an Italian girl with very mild DES caused by the novel homozygous VLDLR missense mutation p.(C419Y) .
27251579
2016
×
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:
51761
Gene Symbol:
ATP8A2
ATP8A2
0.500
Biomarker
disease
MGD
Loss of Tmem30a leads to photoreceptor degeneration.
28839191
2017
×
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
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:
51761
Gene Symbol:
ATP8A2
ATP8A2
0.500
Biomarker
disease
MGD
Aromatic amino acid metabolism in the wabbler-lethal mouse.
4388883
1969
×
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:
767
Gene Symbol:
CA8
CA8
0.210
Biomarker
disease
MGD
Pathogenesis of severe ataxia and tremor without the typical signs of neurodegeneration.
26586559
2016
×
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:
2099
Gene Symbol:
ESR1
ESR1
0.030
AlteredExpression
disease
BEFREE
LH levels recovered from 12 h after DES -treatment and gradually increased until 96 h with a reduction of ERα expression observed in the pituitary.
28827713
2017
×
Entrez Id:
2099
Gene Symbol:
ESR1
ESR1
0.030
Biomarker
disease
BEFREE
Neonatal diethylstilbestrol (DES ) treatment induces polyovular follicles (PFs), which contain more than two oocytes in a follicle, through estrogen receptor (ER) β, not ERα .
29275294
2018