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 has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
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.
|Alternate Symbols: ||AIE-75; NY-CO-37; NY-CO-38; PDZ-73; PDZ73; PDZD7C; harmonin|
|PharmGKB Accession Id:||PA37226|
|Cytogenetic Location:||chr11 : p14.3 - p15.1|
|GP mRNA Boundary†:||chr11 : 17515442 - 17565963|
|GP Gene Boundary†:||chr11 : 17512442 - 17575963|
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.
Publications related to USH1C: 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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||The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. Clinical genetics. 2003. Blaydon D C, et al.|
||A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nature genetics. 2000. Bitner-Glindzicz M, et al.|