DisGeNET - a database of gene-disease associations

Hyperlipoproteinemia Type IIa, C0745103

Variant: rs121908033 ×

Source: ALL

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:

rs121908033

LDLR

0.810

GeneticVariation

CLINVAR

dbSNP:

rs121908033

LDLR

0.810

CausalMutation

CLINVAR

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

2726768

1989

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

1867200

1991

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.

1446662

1992

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.

1464748

1992

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.

8462973

1993

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.

7550239

1995

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.

7583548

1995

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

7635482

1995

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

9259195

1997

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Molecular genetics of familial hypercholesterolaemia in Norway.

9104431

1997

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.

9852677

1998

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

BEFREE

Three founder-related low-density lipoprotein receptor (LDLR) gene mutations, D154N, D206E and V408M, cause familial hypercholesterolemia (FH) in approximately 90% of South African Afrikaners.

9727745

1998

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Possible common mutations in the low density lipoprotein receptor gene in Chinese.

9452118

1998

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).

10422803

1999

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

10090484

1999

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

10882754

2000

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

11462246

2001

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia.

15177124

2004

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

17142622

2006

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

17347910

2007

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

21600525

2011

dbSNP:

rs121908033

LDLR

0.810

GeneticVariation

UNIPROT

Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.

22509010

2012

dbSNP: