PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.
PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.
A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).
|PGx Test||Variants Assayed||Related Drugs?|
|Alternate Names:||acid sphingomyelinase|
|Alternate Symbols: ||ASM|
|PharmGKB Accession Id:||PA35969|
|Cytogenetic Location:||chr11 : p15.4 - p15.1|
|GP mRNA Boundary†:||chr11 : 6411644 - 6416228|
|GP Gene Boundary†:||chr11 : 6401644 - 6419228|
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.
Links to non-PharmGKB pathways.
- ceramide signaling pathway - (BioCarta via Pathway Interaction Database)
- Ceramide signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
- IL2 signaling events mediated by PI3K - (Pathway Interaction Database NCI-Nature Curated)
- phospholipids as signalling intermediaries - (BioCarta via Pathway Interaction Database)
- TNF receptor signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
- TRAIL signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
Publications related to SMPD1: 2
The following icons indicate that data of a certain type is available:
- DG Dosing Guideline information is available
- DL Drug Label information is available
- CA High-level Clinical Annotation is available
- VA Variant Annotation is available
- VIP VIP information is available
- PW Pathway is available
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||Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. American journal of human genetics. 2006. Simonaro Calogera M, et al.|
||L-carnitine prevents doxorubicin-induced apoptosis of cardiac myocytes: role of inhibition of ceramide generation. The FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 1999. Andrieu-Abadie N, et al.|