Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		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
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation UNIPROT Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566

2005
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation UNIPROT These data confirm recent data that a single defective allele in ABCA1 may be associated with reduced HDL cholesterol and FHA. 12204794

2002
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation UNIPROT Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency. 12009425

2002
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation UNIPROT We have now identified 13 ABCA1 mutations in 11 families (five TD, six FHA) and have examined the phenotypes of 77 individuals heterozygous for mutations in the ABCA1 gene. 11086027

2000
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation UNIPROT Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. 10431236

1999
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation UNIPROT These data show that mutations in ABC1 are the major cause of familial HDL deficiency associated with defective cholesterol efflux, and that CERP has an essential role in the formation of HDL. 10533863

1999