|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
|
22493294 |
2012 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The molecular characterization of Gaucher disease in South Africa.
|
8937765 |
1996 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.
|
23699752 |
2013 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
|
30712880 |
2019 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
|
15292921 |
2004 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
|
15605411 |
2005 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.
|
15954102 |
2005 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Gaucher disease: pathological mechanisms and modern management.
|
15813845 |
2005 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
|
18979180 |
2008 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease (GD1), a glycosphingolipid storage disorder caused by deficient activity of lysosomal glucocerebrosidase, is classically considered non-neuronopathic.
|
31613991 |
2019 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hydrops fetalis associated with Gaucher disease.
|
6504764 |
1984 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
|
12595585 |
2003 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
|
8294487 |
1994 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
"Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."
|
15146461 |
2004 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both patients with non-neuronopathic Gaucher disease (GD) and heterozygous GBA mutation carrier are at increased risk for Parkinson disease (PD).
|
27866808 |
2018 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
|
10796875 |
2000 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
|
11359469 |
2001 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
This analysis provides a benchmark for evaluating the utility of a disease management approach for GD1 based on monitoring achievement of therapeutic goals after treatment with imiglucerase.
|
18819093 |
2008 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Differential effects of severe vs mild GBA mutations on Parkinson disease.
|
25653295 |
2015 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
|
9217217 |
1997 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These inhibition studies indicated that: Gaucher disease type 1 is biochemically heterogeneous, neuronopathic and non-Jewish nonneuronopathic phenotypes cannot be reliably distinguished by these inhibitor studies, and the Ashkenazi Jewish form of Gaucher disease type 1 results from a unique mutation in a specific active site domain of acid beta-glucosidase that leads to a defective enzyme with a decreased Vmax.
|
4003396 |
1985 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Sequence of two alleles responsible for Gaucher disease.
|
1972019 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Gaucher disease is an inherited metabolic disease caused by genetic acid β -glucosidase (GBA) deficiency and is currently treated by enzyme replacement therapy.
|
30822514 |
2019 |