Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Molecular-genetic aspects of familial hypercholesterolemia. 26238499 2015
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. 22698793 2012
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417 2011
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. 21310417 2011
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. 20663204 2010
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. 20145306 2010
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 16542394 2006
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436 2004
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR The molecular basis of familial hypercholesterolemia in The Netherlands. 11810272 2001
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104 2000
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. 11196104 2000
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. 10657581 2000
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956 1992
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956 1992