Post

CMT's gene and subtype names are a tangle, and there was no open, downloadable table that lines them up with the evidence for each gene. So I built one: the Open CMT Gene Table, 70 genes, free to reuse.

cmt.blogIntroducing the Open CMT Gene TableCMT's gene and subtype names don't line up, and I haven’t found an open table that sorts them out. So I made one: 70 genes, their old and new names, and how strong the evidence is for each, free to download.

Dan

@danknauss.com

Here's a richer representation and all the source code: github.com/dknauss/cmt-...

cmt.blogOpen CMT Gene Table: CMT Genes, Subtype Names and Evidence RatingsA free, downloadable table of 70 Charcot-Marie-Tooth genes: subtype names like CMT1A and CMT2A, inheritance, and ClinGen evidence ratings. Open data, CC BY 4.0.

Dan

@danknauss.com

github.com/dknauss/cmt-...

github.comGitHub - dknauss/cmt-gene-table: Open table of genes linked to Charcot-Marie-Tooth disease and related inherited neuropathies, built from ClinGen and Mondo. Download as Excel, CSV or JSON; cite by DOI...Open table of genes linked to Charcot-Marie-Tooth disease and related inherited neuropathies, built from ClinGen and Mondo. Download as Excel, CSV or JSON; cite by DOI. - dknauss/cmt-gene-table

14/10/26, 3:34 pm0 reposts1 like

Dan

@danknauss.com

Coming Soon: a #WordPress plugin that gathers biomedical research (currently locked to #CMT #CharcotMarieTooth, #Neuromuscular diseases, and #HereditaryNeuropathy) to make it easier to review and curate new publications. Learn more at cmt.blog. #NeuroSkyence #InvisibleDisability & #ChronicIllness

cmt.blogCMT BlogAn independent blog from Edmonton on living with CMT: the science, lived experience, accountability reporting on CMT charities and Canadian resources.