VLDLR, very low density lipoprotein receptor, 7436

N. diseases: 143; N. variants: 24
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE Six mutations in VLDLR have now been identified in 5 families with a phenotype characterized by moderate-to-profound mental retardation, delayed ambulation, truncal and peripheral ataxia, and occasional seizures. 19332571 2009
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO