DisGeNET - a database of gene-disease associations

Familial hypercholesterolemia - homozygous, C0342881

Variant: rs875989926 ×

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:

rs875989926

LDLR

0.700

CausalMutation

CLINVAR

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

26892515

2016

dbSNP:

rs875989926

LDLR

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs875989926

LDLR

0.700

CausalMutation

CLINVAR

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

20145306

2010

dbSNP:

rs875989926

LDLR

0.700

CausalMutation

CLINVAR

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.

19208450

2009

dbSNP:

rs875989926

LDLR

0.700

CausalMutation

CLINVAR

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

10532689

1999

dbSNP:

rs875989926

LDLR

0.700

CausalMutation

CLINVAR

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.

10090473

1999