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Diseases

Displaying entries 1 - 25 of 150 in total
Neurological diseases (150) Non-neurological diseases (0)
Glia Protein / Neurological Diseases
Protein Name Gene Name Uniprot ID Disease Name References
Lysosomal alpha-glucosidase Gaa P70699 Axonal neuropathy McCabe, D. J. et al. (Arch Neurol, 2002)
Lysosomal alpha-glucosidase Gaa Q6P7A9 Axonal neuropathy McCabe, D. J. et al. (Arch Neurol, 2002)
DNA topoisomerase 1 Top1 Q04750 Axonal neuropathy Katyal, S. et al. (Nat Neurosci, 2014)
Myelin protein P0 Mpz P06907 Axonal neuropathy
Santoro, L. et al. (J Neurol Neurosurg Psychiatry, 2004) and 5 others
Alanine--tRNA ligase, cytoplasmic Aars Q8BGQ7 Axonal neuropathy Bansagi, B. et al. (J Neurol, 2015)
Serine/threonine-protein kinase VRK1 Vrk1 Q80X41 Axonal neuropathy Gonzaga-Jauregui, C. et al. (JAMA Neurol, 2013)
Gelsolin Gsn P13020 Familial Amyloid Polyneuropathy, Type IV Maury, C. P. et al. (Biochim Biophys Acta, 1990), Sunada, Y. et al. (Ann Neurol, 1993)
Gelsolin Gsn Q68FP1 Familial Amyloid Polyneuropathy, Type IV Maury, C. P. et al. (Biochim Biophys Acta, 1990), Sunada, Y. et al. (Ann Neurol, 1993)
Gelsolin Gsn P13020 Familial Amyloid Polyneuropathy, Type V Wiens, A. et al. (Am J Hum Genet, 1992), Pradhan, M. A. et al. (Cornea, 2011)
Gelsolin Gsn Q68FP1 Familial Amyloid Polyneuropathy, Type V Wiens, A. et al. (Am J Hum Genet, 1992), Pradhan, M. A. et al. (Cornea, 2011)
Vimentin VIM M3YJK3 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Vimentin Vim P20152 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Vimentin Vim P31000 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Vimentin Vim Q5FWJ3 GIANT AXONAL NEUROPATHY 1 Mussche, S. et al. (Hum Gene Ther, 2013), Lowery, J. et al. (Mol Biol Cell, 2016)
Glial fibrillary acidic protein Gfap P03995 GIANT AXONAL NEUROPATHY 1 Johnson-Kerner, B. L. et al. (Hum Mol Genet, 2015)
Superoxide dismutase [Cu-Zn] Sod1 P08228 HMN (Hereditary Motor Neuropathy) Proximal Type I Chou, S. M. et al. (Neurology, 1982)
General transcription factor IIH subunit 3 Gtf2h3 Q8VD76 HMN (Hereditary Motor Neuropathy) Proximal Type I Burglen, L. et al. (Am J Hum Genet, 1997)
Myelin protein P0 Mpz P06907 Hypertrophic neuropathy of infancy
Giese, K. P. et al. (Cell, 1992) and 2 others
C-X-C motif chemokine 10 Cxcl10 P48973 Inflammatory neuropathy Kieseier, B. C. et al. (Brain, 2002)
Interleukin-10 Il10 P29456 Inflammatory neuropathy Uceyler, N. et al. (J Neurol, 2015)
Myelin protein P0 Mpz P06907 Inflammatory neuropathy Massa, R. et al. (Muscle Nerve, 2006), Cottenie, E. et al. (Neuromuscul Disord, 2013)
Ribose-phosphate pyrophosphokinase 1 Prps1 Q9D7G0 Inherited Peripheral Neuropathy Kim, H. J. et al. (Am J Hum Genet, 2007)
Pleckstrin Plek Q9JHK5 Mixed sensory-motor polyneuropathy Bitoun, M. et al. (Neuromuscul Disord, 2008)
Myelin protein P0 Mpz P06907 Mixed sensory-motor polyneuropathy Finsterer, J. et al. (Eur J Neurol, 2006)
AP-5 complex subunit zeta-1 Ap5z1 Q3U829 Neuropathy Hirst, J. et al. (Hum Mol Genet, 2015)