VLDLR, very low density lipoprotein receptor, 7436

N. diseases: 143; N. variants: 24
Disease: Dialysis disequilibrium syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403559
Disease: Dialysis disequilibrium syndrome
Dialysis disequilibrium syndrome 		0.050 GeneticVariation disease BEFREE Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. 27251579 2016
CUI: C0403559
Disease: Dialysis disequilibrium syndrome
Dialysis disequilibrium syndrome 		0.050 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: C0403559
Disease: Dialysis disequilibrium syndrome
Dialysis disequilibrium syndrome 		0.050 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: C0403559
Disease: Dialysis disequilibrium syndrome
Dialysis disequilibrium syndrome 		0.050 GeneticVariation disease BEFREE Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 19332571 2009
CUI: C0403559
Disease: Dialysis disequilibrium syndrome
Dialysis disequilibrium syndrome 		0.050 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