DisGeNET - a database of gene-disease associations

HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, C1863512

Variant: rs755104973 ×

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:

rs755104973

LDLRAP1

0.700

CausalMutation

CLINVAR

Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment.

15485476

2004

dbSNP:

rs755104973

LDLRAP1

0.700

CausalMutation

CLINVAR

Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.

12464675

2002

dbSNP:

rs755104973

LDLRAP1

0.700

CausalMutation

CLINVAR

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

12016260

2002

dbSNP:

rs755104973

LDLRAP1

0.700

CausalMutation

CLINVAR

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.

11326085

2001