DisGeNET - a database of gene-disease associations

Hypoalphalipoproteinemia, Familial, C1704429

Gene: ABCA1 ×

Source: UNIPROT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs145183203

ABCA1

0.700

GeneticVariation

UNIPROT

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

10431236

1999

dbSNP:

rs28933692

ABCA1

0.700

GeneticVariation

UNIPROT

Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.

10533863

1999

dbSNP:

rs28933692

ABCA1

0.700

GeneticVariation

UNIPROT

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

10431236

1999

dbSNP:

rs760768125

ABCA1

0.700

GeneticVariation

UNIPROT

Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.

10533863

1999

dbSNP:

rs760768125

ABCA1

0.700

GeneticVariation

UNIPROT

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

10431236

1999

dbSNP:

rs369098049

ABCA1

0.700

GeneticVariation

UNIPROT