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Gaucher disease
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
GBA
PSAP
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Glycosyl hydrolase family 30, beta sandwich domain
Glycosyl hydrolase family 30, TIM-barrel domain
Glycoside hydrolase family 30
beta-glucoside catabolic process
positive regulation of neuronal action potential
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Curated Studies
Most Correlated Studies
Induced pluripotent stem cells and fibroblasts from dermis of Gaucher disease patients
Skin fibroblast gene expression in neuropathic and non-neuropathic Gaucher disease
Gaucher Disease progression in the liver and lungs in disease models in mouse
OMIM - Gaucher's disease
Mouse Phenotypes - Gaucher disease
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Literature
Most Relevant Literature
Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.
Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease.
Animal Models for the Study of Gaucher Disease.
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.
Advancements in Viral Gene Therapy for Gaucher Disease.
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Clinical Trials
Most Relevant Clinical Trials
Biomarker for Gaucher Disease: BioGaucher (BioGaucher)
Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
PEG-Glucocerebrosidase for the Treatment of Gaucher Disease
Exploration of Immunity in Gaucher Disease
Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease
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