| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. | 25487149 | 2015 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. | 25647241 | 2015 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 23375686 | 2013 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. | 23680767 | 2013 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. | 22390909 | 2012 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. | 21382890 | 2011 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Update of the Portuguese Familial Hypercholesterolaemia Study. | 20828696 | 2010 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | GeneticVariation | BEFREE | Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia. | 10563483 | 1999 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. | 1464748 | 1992 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. | 1830890 | 1991 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject. | 2920733 | 1989 | |||||
Familial hypercholesterolemia - homozygous
|
0.710 | CausalMutation | CLINVAR | Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. | 2726768 | 1989 |