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gaucher disease
(phenotype)
NextBio 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
OMIM - Congenital disorder
Induced pluripotent stem cells and fibroblasts from dermis of Gaucher disease patients
Mouse Phenotypes - Gaucher disease
Skin fibroblast gene expression in neuropathic and non-neuropathic Gaucher disease
Gaucher Disease progression in the liver and lungs in disease models in mouse
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Literature
Most Relevant Literature
A scientific pharmacognosy on Gaucher's disease: an in silico analysis.
Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patient…
The definition of neuronopathic Gaucher disease.
Enzyme replacement therapy leading to improvement in myeloma indices in a patient with concomitant G…
Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.
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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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