DisGeNET - a database of gene-disease associations

Hypercholesterolemia, Familial, C0020445

Variant: rs121908031 ×

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:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

25461735

2015

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

23375686

2013

dbSNP:

rs121908031

LDLR

0.720

GeneticVariation

BEFREE

A similar effect was detected in familial hypercholesterolaemia (FH) patients with the p.C681X mutation of LDL-receptor (LDLR).

21920719

2012

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

22698793

2012

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation.

21145767

2011

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

19318025

2009

dbSNP:

rs121908031

LDLR

0.720

GeneticVariation

BEFREE

In this study we characterize the spectrum of the mutations causing FH in Lebanon: we confirm the very high frequency of the LDLR p.Cys681X mutation that accounts for 81.5 % of the FH Lebanese probands recruited and identify other less frequent mutations in the LDLR.

19319977

2009

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

19319977

2009

dbSNP:

rs121908031

LDLR

0.720

GeneticVariation

CLINVAR

Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan.

16092059

2005

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

15199436

2004

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.

12406975

2002

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

11668627

2001

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

9259195

1997

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia.

1453433

1992

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

"Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the ""Lebanese"" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor."

1959928

1991

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

3025214

1987

dbSNP:

rs121908031

LDLR

0.720

CausalMutation

CLINVAR

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA.

14209286

1964