Diseases

Displaying all 22 entries
Protein Name Gene Name Uniprot ID Disease Name References
Superoxide dismutase [Cu-Zn] Sod1 P08228 Charcot-Marie-Tooth Disease Cairns, N. J. et al. (J Pathol, 2004)
Pleckstrin Plek Q9JHK5 Charcot-Marie-Tooth Disease
Macrophage colony-stimulating factor 1 Csf1 P07141 Charcot-Marie-Tooth Disease Groh, J. et al. (Brain, 2012)
Macrophage colony-stimulating factor 1 Csf1 Q8JZQ0 Charcot-Marie-Tooth Disease Groh, J. et al. (Brain, 2012)
C-C motif chemokine 2 Ccl2 P10148 Charcot-Marie-Tooth Disease Kohl, B. et al. (Am J Pathol, 2010), Groh, J. et al. (Hum Mol Genet, 2010)
Neurotrophin-3 Ntf3 P20181 Charcot-Marie-Tooth Disease Sahenk, Z. et al. (Exp Neurol, 2010), Sahenk, Z. et al. (Mol Ther, 2014)
Myelin protein P0 Mpz P06907 Charcot-Marie-Tooth Disease
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Ciliary neurotrophic factor Cntf P20294 Charcot-Marie-Tooth Disease Van Vught, P. W. et al. (Neuromuscul Disord, 2007), Nobbio, L. et al. (J Neuropathol Exp Neurol, 2009)
Calnexin Canx P35565 Charcot-Marie-Tooth Disease
Phosphoglucomutase-1 Pgm1 Q9D0F9 Charcot-Marie-Tooth Disease Bird, T. D. et al. (Am J Hum Genet, 1982)
Phosphoglucomutase-1 Pgm1 P38652 Charcot-Marie-Tooth Disease Bird, T. D. et al. (Am J Hum Genet, 1982)
Alanine--tRNA ligase, cytoplasmic Aars Q8BGQ7 Charcot-Marie-Tooth Disease
Valosin containing protein VCP M3XZQ1 Charcot-Marie-Tooth Disease
Transitional endoplasmic reticulum ATPase Vcp Q01853 Charcot-Marie-Tooth Disease
Transitional endoplasmic reticulum ATPase Vcp P46462 Charcot-Marie-Tooth Disease
Methionine--tRNA ligase, cytoplasmic Mars Q68FL6 Charcot-Marie-Tooth Disease Bird, T. D. (, 1993)
Ribose-phosphate pyrophosphokinase 1 Prps1 Q9D7G0 Charcot-Marie-Tooth Disease
Cell division control protein 42 homolog Cdc42 P60766 Charcot-Marie-Tooth Disease Stendel, C. et al. (Am J Hum Genet, 2007)
TRK-fused gene protein Tfg Q4R1A4 Charcot-Marie-Tooth Disease Tsai, P. C. et al. (Neurology, 2014)
m7GpppX diphosphatase Dcps Q9DAR7 Charcot-Marie-Tooth Disease McLaughlin, H. M. et al. (Am J Hum Genet, 2010), Malissovas, N. et al. (Hum Mol Genet, 2016)
Sortilin Sort1 O54861 Charcot-Marie-Tooth Disease Sahenk, Z. et al. (Mol Ther, 2014)
Tumor susceptibility gene 101 protein Tsg101 Q61187 Charcot-Marie-Tooth Disease Saifi, G. M. et al. (Hum Mutat, 2005), Shirk, A. J. et al. (J Neurosci Res, 2005)