DisGeNET - a database of gene-disease associations

ABCG5, ATP binding cassette subfamily G member 5, 64240

N. diseases: 108; N. variants: 15

Disease: Sitosterolemia ×

Variant: rs199689137 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].

29886606

2018

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

29353225

2018

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

28521186

2017

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Based on the third variant, a stop variant in ABCG5 (p.(Arg446*)), we established a diagnosis of sitosterolemia, confirmed by elevated blood plant sterol levels and successfully initiated targeted lipid-lowering treatment.

26813946

2016

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.

25665839

2015

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

24166850

2014

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.

24423340

2014

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].

21729603

2011

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene.

20521169

2010

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

20719861

2010

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.

19111681

2009

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

17976197

2007

dbSNP:

rs199689137

Entrez Id:	51626;64240
Gene Symbol:	DYNC2LI1;ABCG5

DYNC2LI1;ABCG5

CUI:	C0342907
Disease:

Sitosterolemia

0.700

CausalMutation

CLINVAR

Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols.

17228349

2007