Experts in CMT CMT Gene Browser
© 2026, Experts in CMT, and its affiliates and assigns and licensors.
Some rights reserved.

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LICENSE

The Experts in CMT CMT Gene Browser dataset is licensed under a Creative
Commons Attribution 4.0 International License (CC BY 4.0). You are free to
share the dataset, copying and redistributing it in any medium or format, and
to adapt it, remixing, transforming, and building upon it for any purpose,
including commercial purposes. These freedoms are granted so long as you give
appropriate credit to Experts in CMT, provide a link to the license, and
indicate whether changes were made. You may do so in any reasonable manner,
but not in any way that suggests Experts in CMT endorses you or your use. You
may not apply legal terms or technological measures that legally restrict
others from doing anything the license permits. The full license text is
available at https://creativecommons.org/licenses/by/4.0/.

ATTRIBUTION

When citing this dataset, please use:

Experts in CMT. (2026). Experts in CMT CMT Gene Browser [Data set]. Version 1.0.3.
Zenodo. https://doi.org/10.5281/zenodo.21970233. Licensed under CC BY 4.0.

The DOI above is the concept DOI, which always resolves to the latest version.

SCOPE OF LICENSE

The CC BY 4.0 license applies to the curation, compilation, selection,
arrangement, classifications, and original descriptive text authored by
Experts in CMT, together with any database rights Experts in CMT holds in
that compilation. It does not extend to any material Experts in CMT does not
own.

THIRD-PARTY CONTENT

This dataset incorporates, references, and links to content owned by third
parties, including gene nomenclature, variant records, curated gene-disease
and dosage classifications, population frequency data, reference sequences,
protein annotations, panel identifiers, discovery attributions, publication
metadata, and cited literature. All such content remains the property of its
respective owner and is subject to that owner's copyright, database rights,
licenses, and terms of use. Third-party content is included under the terms
made available by each owner, or as permitted by applicable law, and no
rights in it are granted, transferred, or sublicensed by Experts in CMT.
Names, marks, and logos of third parties are the property of their respective
owners and their appearance does not imply affiliation with or endorsement by
those owners. Users who reuse or redistribute this dataset are responsible
for identifying and complying with the terms governing any third-party
content it contains. If you believe material in this dataset is included in
error or in a manner inconsistent with your rights, contact Experts in CMT at
info@expertsincmt.org and the matter will be addressed promptly.

SOURCES

Records referenced in this dataset are drawn from HGNC (gene nomenclature),
Ensembl (gene identifiers and genomic coordinates), MANE (reference
transcripts), UniProt (protein annotations), ClinVar (variant
classifications), ClinGen (gene-disease validity and dosage sensitivity
classifications), MONDO (disease ontology identifiers), gnomAD (population
frequency and constraint), OMIM (record identifiers only), Genomics England
PanelApp (panel and entity identifiers only), and the Genesis Project
Foundation (discovery attributions). All source data in this release was
obtained on August 2, 2026. Each source remains subject to its own terms of
use, as described above, and each is cited below. The GENESIS discovery flag
carried by certain gene records indicates that the gene-disease association
was identified through work conducted on the GENESIS platform, as published
by the Genesis Project Foundation. No GENESIS platform data is included in
this dataset.

ClinGen
    Curated content in this dataset was obtained from the Clinical Genome
    Resource (www.clinicalgenome.org): Gene-Disease Validity classifications
    and Gene Dosage Sensitivity classifications, accessed August 2, 2026.

    Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ,
    Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM,
    Sherry ST, Watson MS. ClinGen: the Clinical Genome Resource. New England
    Journal of Medicine. 2015;372(23):2235-2242. doi:10.1056/NEJMsr1406261

    ClinGen Consortium. The Clinical Genome Resource (ClinGen): advancing
    genomic knowledge through global curation. Genetics in Medicine.
    2025;27(1):101228. doi:10.1016/j.gim.2024.101228

ClinVar
    Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B,
    Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z,
    Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman
    BL, Maglott DR. ClinVar: improving access to variant interpretations and
    supporting evidence. Nucleic Acids Research. 2018;46(D1):D1062-D1067.
    doi:10.1093/nar/gkx1153

Ensembl
    Dyer SC, Austine-Orimoloye O, Azov AG, Barba M, Barnes I, Barrera-Enriquez
    VP, Becker A, Bennett R, Beracochea M, Berry A, et al. Ensembl 2025.
    Nucleic Acids Research. 2025;53(D1):D948-D957. doi:10.1093/nar/gkae1071

Genesis Project Foundation
    Genesis Project Foundation. Discoveries.
    https://www.tgp-foundation.org/d-i-s-c-o-v-e-r-i-e-s

    M. Gonzalez, M. J. Falk, X. Gai, R. Postrel, R. Schüle, and S. Züchner,
    "Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform.,"
    Hum. Mutat., vol. 36, no. 10, pp. 950-956, Oct. 2015. doi:10.1002/humu.22836

gnomAD
    Chen S, Francioli LC, Goodrich JK, et al.; Genome Aggregation Database
    Consortium. A genomic mutational constraint map using variation in
    76,156 human genomes. Nature. 2024;625(7993):92-100.
    doi:10.1038/s41586-023-06045-0

    Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint
    spectrum quantified from variation in 141,456 humans. Nature.
    2020;581(7809):434-443. doi:10.1038/s41586-020-2308-7

HGNC
    Seal RL, Braschi B, Gray K, McClay J, Tweedie S, Bruford EA.
    Genenames.org: the HGNC and PGNC resources in 2026. Nucleic Acids
    Research. 2026;54(D1):D1098-D1107. doi:10.1093/nar/gkaf1229

    HGNC Database, HUGO Gene Nomenclature Committee (HGNC), Department of
    Haematology, Long Road, Cambridge CB2 0PT, United Kingdom.
    www.genenames.org. Data retrieved August 2026.

MANE
    Morales J, Pujar S, Loveland JE, et al. A joint NCBI and EMBL-EBI
    transcript set for clinical genomics and research. Nature.
    2022;604(7905):310-315. doi:10.1038/s41586-022-04558-8

MONDO
    Vasilevsky NA, Matentzoglu NA, Toro S, Flack JE, Hegde H, Unni DR,
    Alyea GF, Amberger JS, Babb L, Balhoff JP, et al. Mondo: Unifying
    diseases for the world, by the world. medRxiv. 2022.
    doi:10.1101/2022.04.13.22273750

OMIM
    Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org:
    Online Mendelian Inheritance in Man (OMIM®), an online catalog of human
    genes and genetic disorders. Nucleic Acids Research. 2015;43(D1):
    D789-D798. doi:10.1093/nar/gku1205

PanelApp
    Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O,
    Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, Thomas E, Scott RH,
    Baple E, Tucci A, Brittain H, de Burca A, Ibañez K, Kasperaviciute D,
    Smedley D, Caulfield M, Rendon A, McDonagh EM. PanelApp crowdsources
    expert knowledge to establish consensus diagnostic gene panels. Nature
    Genetics. 2019;51(11):1560-1565. doi:10.1038/s41588-019-0528-2

UniProt
    The UniProt Consortium. UniProt: the Universal Protein Knowledgebase in
    2025. Nucleic Acids Research. 2025;53(D1):D609-D617.
    doi:10.1093/nar/gkae1010

DISCLAIMER

The dataset is offered as-is and as-available. Experts in CMT makes no
representations or warranties of any kind concerning the dataset, express,
implied, statutory, or otherwise, and disclaims all liability for damages
arising from its use to the fullest extent permitted by law. The dataset is
provided for informational and educational purposes and is not medical
advice, and it is not a substitute for evaluation by a qualified healthcare provider.