DisGeNET - a database of gene-disease associations

Acanthocytosis With Hypobetalipoproteinemia, C4551990

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:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Genetic diagnosis of familial hypercholesterolemia in Han Chinese.

27206935

2017

dbSNP:

rs771541567

APOB

0.700

GeneticVariation

UNIPROT

Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.

27206948

2017

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

26415676

2015

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

24234650

2014

dbSNP:

rs368825685

APOB

0.700

CausalMutation

CLINVAR

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

24507775

2014

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

23936638

2013

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

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

23375686

2013

dbSNP:

rs5742904

APOB

0.700

CausalMutation

CLINVAR

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

23375686

2013

dbSNP:

rs1215189537

APOB

0.700

CausalMutation

CLINVAR

Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.

22855658

2012

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

22294733

2012

dbSNP:

rs1558564161

APOB

0.700

CausalMutation

CLINVAR

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

22095935

2012

dbSNP:

rs771541567

APOB

0.700

GeneticVariation

UNIPROT

A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.

21981844

2012

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Array-based resequencing for mutations causing familial hypercholesterolemia.

21376320

2011

dbSNP:

rs5742904

APOB

0.700

CausalMutation

CLINVAR

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.

21868016

2011

dbSNP:

rs1558560212

APOB

0.700

GeneticVariation

CLINVAR

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.

20032471

2010

dbSNP:

rs5742904

APOB

0.700

CausalMutation

CLINVAR

Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.

21059979

2010

dbSNP:

rs5742904

APOB

0.700

CausalMutation

CLINVAR

Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).

18222178

2008

dbSNP:

rs5742904

APOB

0.700

CausalMutation

CLINVAR

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.

18325181

2008

dbSNP:

rs1215189537

APOB

0.700

CausalMutation

CLINVAR

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

17570373

2007

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

16250003

2005

dbSNP:

rs5742904

APOB

0.700

CausalMutation

CLINVAR

Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.

15797858

2005

dbSNP:

rs771541567

APOB

0.700

GeneticVariation

UNIPROT

A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.

12551903

2003

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

11238294

2001

dbSNP:

rs5742904

APOB

0.700

CausalMutation

CLINVAR

The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

11115503

2001

dbSNP:

rs144467873

APOB

0.700

CausalMutation

CLINVAR

Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.

10388479

1999