Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation BEFREE None of our patients had VLDLR mutations or MRI findings characteristic of DES-VLDLR. 20199520

2011
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation 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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker 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: 7436
Gene Symbol: VLDLR
VLDLR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker GENOMICS_ENGLAND

Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation CLINVAR

Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 CausalMutation CLINVAR

Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker CTD_human