DisGeNET - a database of gene-disease associations

Hyperlipoproteinemia Type I, C0023817

Gene: LPL ×

Source: CURATED ×

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:

rs1181582051

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs149089920

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs373088068

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs546542623

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs761265900

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs770601263

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs773235712

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs781614031

LPL

0.700

GeneticVariation

UNIPROT

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

15877202

2005

dbSNP:

rs1181582051

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs149089920

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs373088068

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs546542623

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs761265900

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs770601263

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs773235712

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs781614031

LPL

0.700

GeneticVariation

UNIPROT

Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

12641539

2003

dbSNP:

rs1181582051

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs149089920

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs373088068

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs546542623

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs761265900

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs770601263

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs773235712

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs781614031

LPL

0.700

GeneticVariation

UNIPROT

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

12204001

2002

dbSNP:

rs1181582051

LPL

0.700

GeneticVariation

UNIPROT

A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.

11099402

2000