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This Service

A database built with INDRA combining content from numerous readers and databases. This page allows you to curate the loaded statements. For more information please see the manual.

This Project

INDRA is developed by indralabs, a part of the Harvard Medical School Laboratory of Systems Pharmacology.

This project, indra_db, is also developed by the indralab team. For more information on how we procure our sources, you can go here. This work was funded by ARO grant W911NF‐15‐1‐0544 under the DARPA Communicating with Computers program.

IndraLab

Statements

Mutated COL9A3 activates SCN8A. 2 / 2

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"Because COL9A2 and COL9A3 mutations can cause MED, one could expect COL9A1 to be another locus for MED."

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"However, myopathy does not appear to be a consistent feature of MED caused by COL9A3 mutations [Paassilta et al., XREF_BIBR; Nakashima et al., XREF_BIBR] and it has been suggested that the degree of muscle weakness correlates with the severity of the MED phenotype [Nakashima et al., XREF_BIBR]."

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Our Sources:

INDRA allows us to combine the results from a multitude of sources. In particular, the INDRA Database draws on the following...