ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Hypoalphalipoproteinemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981 2013
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566 2005
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 12009425 2002
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 12204794 2002
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. 11086027 2000
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 10431236 1999
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. 10533863 1999