|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
|
24097981 |
2013 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Screening for functional sequence variations and mutations in ABCA1.
|
15262183 |
2004 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Multiple rare alleles contribute to low plasma levels of HDL cholesterol.
|
15297675 |
2004 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.
|
15520867 |
2004 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.
|
15158913 |
2004 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
|
15019541 |
2004 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular interactions between apoE and ABCA1: impact on apoE lipidation.
|
14754908 |
2004 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease.
|
14576201 |
2003 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.
|
12111381 |
2002 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T.
|
12407001 |
2002 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.
|
12111371 |
2002 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency.
|
11785958 |
2002 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.
|
11257260 |
2001 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.
|
11476961 |
2001 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.
|
11476965 |
2001 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Common and rare ABCA1 variants affecting plasma HDL cholesterol.
|
10938021 |
2000 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.
|
10706591 |
2000 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.
|
11086027 |
2000 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
|
10431236 |
1999 |
|
rs137854501
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
|
10431237 |
1999 |
|
rs137854501
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|