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farber lipogranulomatosis
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ASAH1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Acid ceramidase, N-terminal
Choloylglycine hydrolase/NAAA C-terminal
Acid ceramidase-like
MODULE_492
MODULE_346
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Most Correlated Studies
Mouse Phenotypes - Congenital connective tissue disorder
OMIM - Congenital disorder
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Literature
Most Relevant Literature
rAAV-mediated over-expression of acid ceramidase prevents retinopathy in a mouse model of Farber lip…
Farber disease in a patient from China.
Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease …
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Th…
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Clinical Trials
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Biomarker for Farber Disease (BioFarber)
Farber Disease Natural History Study
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