rs144172724, LDLR

N. diseases: 6
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.800 GeneticVariation UNIPROT Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 21600525 2011
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.800 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118 1998
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.800 GeneticVariation UNIPROT Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. 24418289 2014
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.800 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921 2013
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.800 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: 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
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.800 GeneticVariation UNIPROT A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland. 22160468 2012
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: 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
CUI: C0745103
Disease: 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