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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2

Summary

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [from MONDO]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CMT2T, DSMA5, HMNR5, HSJ-1, HSJ1, HSPF3, DNAJB2
    Summary: DnaJ heat shock protein family (Hsp40) member B2

  • Also known as: CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7, IGHMBP2
    Summary: immunoglobulin mu DNA binding protein 2

  • Also known as: CMT2U, ILFS2, ILLD, MARS, METRS, MRS, MTRNS, SPG70, TTD9, MARS1
    Summary: methionyl-tRNA synthetase 1

  • Also known as: CALLA, CD10, CMT2T, NEP, SCA43, SFE, MME
    Summary: membrane metalloendopeptidase

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