| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Hypercholesterolemia result
|
0.700 | CausalMutation | CLINVAR | ||||||||
Low density lipoprotein increased
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hypercholesterolemia result
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Ischemic stroke
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Eyelid Xanthoma
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | 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 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. | 1867200 | 1991 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. | 1464748 | 1992 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. | 1446662 | 1992 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. | 8462973 | 1993 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. | 7583548 | 1995 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. | 7635482 | 1995 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. | 7550239 | 1995 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. | 9259195 | 1997 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Molecular genetics of familial hypercholesterolaemia in Norway. | 9104431 | 1997 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | CausalMutation | CLINVAR | Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. | 9259195 | 1997 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | CausalMutation | CLINVAR | Molecular genetics of familial hypercholesterolaemia in Norway. | 9104431 | 1997 | |||||
Hypercholesterolemia, Familial
|
0.700 | CausalMutation | CLINVAR | Molecular genetics of familial hypercholesterolaemia in Norway. | 9104431 | 1997 | |||||
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | Molecular genetics of familial hypercholesterolaemia in Norway. | 9104431 | 1997 | |||||
Hypercholesterolemia, Familial
|
0.700 | CausalMutation | CLINVAR | Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. | 9259195 | 1997 | |||||
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. | 9259195 | 1997 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. | 9259195 | 1997 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. | 9852677 | 1998 | |||||
Hyperlipoproteinemia Type IIa
|
0.800 | GeneticVariation | UNIPROT | Possible common mutations in the low density lipoprotein receptor gene in Chinese. | 9452118 | 1998 |