|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
CausalMutation
|
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 |
UNIPROT |
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
|
10340647 |
1999 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
|
10340647 |
1999 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid beta-glucosidase.
|
10757640 |
2000 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA).
|
10777718 |
2000 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase.
|
8829654 |
1996 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
|
23588557 |
2013 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
|
1840477 |
1991 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
|
10206680 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
|
9650766 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
|
8294033 |
1993 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
About 30 identified missense mutations are causal to the defective activity of acid beta-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashkenazi Jewish Gaucher disease type 1 patient whose 80-year-old, enzyme-deficient, 1226G (Asn370----Ser [N370S]) homozygous grandfather was nearly asymptomatic.
|
1415223 |
1992 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
|
21257328 |
2011 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.
|
24482953 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
All but one patient with GD1/PD phenotype had at least one N370S GBA1 allele.
|
20177787 |
2010 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Although reduced acid beta-glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and beta-hexosaminidase activities but with a normal level of lactic dehydrogenase activity.
|
6859103 |
1983 |
|
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 |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
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 |
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
|
10796875 |
2000 |