DisGeNET - a database of gene-disease associations

Hypercholesterolemia, Familial, C0020445

Variant: rs879255000 ×

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:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).

22528129

2012

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

CLINVAR

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

19318025

2009

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

BEFREE

The LDLR mutation p.W556R is a frequent and severe defect for FH.

20129366

2009

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

BEFREE

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.

18339137

2008

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

CLINVAR

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.

18339137

2008

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.

18339137

2008

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

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:

rs879255000

LDLR

0.720

GeneticVariation

CLINVAR

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:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

The molecular basis of familial hypercholesterolaemia in Turkish patients.

15823276

2005

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

CLINVAR

The molecular basis of familial hypercholesterolaemia in Turkish patients.

15823276

2005

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

CLINVAR

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

15199436

2004

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

CLINVAR

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

12436241

2002

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

12436241

2002

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

The molecular basis of familial hypercholesterolemia in The Netherlands.

11810272

2001

dbSNP:

rs879255000

LDLR

0.720

GeneticVariation

CLINVAR

The molecular basis of familial hypercholesterolemia in The Netherlands.

11810272

2001

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.

11013454

2000

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.

9180246

1997

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing.

8697568

1996

dbSNP:

rs879255000

LDLR

0.720

CausalMutation

CLINVAR