Other Services

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

COL9A3 activates SCN8A. 2 / 2

| 2

➶

reach

"Mutations in genes coding cartilage oligomeric matrix protein (COMP), type IX collagen alpha 1, 2, and 3 chains (COL9A1, COL9A2, COL9A3), and matrilin 3 (MATN3) cause the dominantly inherited forms of MED, while homozygous or compound heterozygous mutations in diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) gene cause recessively inherited MED (rMED, EDM4 OMIM 226900)."

20592910

➶

reach

"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."

30740902

Our Sources:

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