|
rs201948500
|
DYNC2LI1
|
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
|
26077881 |
2015 |
|
rs201948500
|
DYNC2LI1
|
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
|
|
0.800 |
GeneticVariation |
UNIPROT |
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
|
26130459 |
2015 |
|
rs886037860
|
DYNC2LI1
|
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
|
|
0.800 |
GeneticVariation |
UNIPROT |
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
|
26130459 |
2015 |
|
rs886037860
|
DYNC2LI1
|
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
|
26077881 |
2015 |
|
rs201948500
|
DYNC2LI1
|
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886037860
|
DYNC2LI1
|
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs119480069
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
BEFREE |
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 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
|
15054092 |
2004 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G).
|
11668628 |
2001 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
|
11138003 |
2001 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
|
11452359 |
2001 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
BEFREE |
In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G).
|
11668628 |
2001 |
|
rs119480069
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs138958276
|
DYNC2LI1;ABCG5
|
Body Height
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs3765000
|
DYNC2LI1
|
Red Blood Cell Count measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
|
29886606 |
2018 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
|
29353225 |
2018 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
|
28521186 |
2017 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
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 |
|
rs4148191
|
DYNC2LI1;ABCG5
|
C-reactive protein measurement
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
|
27286809 |
2016 |
|
rs4148191
|
DYNC2LI1;ABCG5
|
Serum total cholesterol measurement
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
|
27286809 |
2016 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
|
25665839 |
2015 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
|
24166850 |
2014 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
|
24423340 |
2014 |
|
rs17031687
|
DYNC2LI1;ABCG5
|
Serum LDL cholesterol measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |