VLDLR, very low density lipoprotein receptor, 7436

N. diseases: 143; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation disease BEFREE None of our patients had VLDLR mutations or MRI findings characteristic of DES-VLDLR. 20199520 2011
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation disease BEFREE Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 19332571 2009
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker disease GENOMICS_ENGLAND Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 18364738 2008
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		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
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker disease GENOMICS_ENGLAND
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 GeneticVariation disease CLINVAR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 CausalMutation disease CLINVAR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.680 Biomarker disease CTD_human
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.410 Biomarker disease GENOMICS_ENGLAND The association of cerebellar hypoplasia with mutations in VLDLR has been reported previously in the Hutterite population and in a family from Iran. 18364738 2008
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.410 GeneticVariation disease BEFREE Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 18326629 2008
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.410 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
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.410 Biomarker disease HPO
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.350 GeneticVariation disease BEFREE Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. 27251579 2016
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.350 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
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.350 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
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.350 GermlineCausalMutation disease ORPHANET Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 21885617 2011
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.350 GeneticVariation disease BEFREE Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 19332571 2009
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.350 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