Diseases

Displaying entries 51 - 75 of 150 in total
Protein Name Gene Name Uniprot ID Disease Name References
Interleukin-2 Il2 P17108 Neuropathy Uceyler, N. et al. (Neurology, 2007)
Actin, cytoplasmic 1 Actb P60710 Neuropathy Eaton, R. P. et al. (J Diabetes Complications, 1998)
Actin, cytoplasmic 1 Actb P60711 Neuropathy Eaton, R. P. et al. (J Diabetes Complications, 1998)
Ribose-phosphate pyrophosphokinase 1 Prps1 Q9D7G0 Neuropathy Robusto, M. et al. (Eur J Hum Genet, 2015)
Cell division control protein 42 homolog Cdc42 P60766 Neuropathy Stendel, C. et al. (Am J Hum Genet, 2007)
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 Pin1 Q9QUR7 Neuropathy Liou, Y. C. et al. (Nature, 2003)
Sortilin Sort1 O54861 Neuropathy Sahenk, Z. et al. (Mol Ther, 2014)
Apolipoprotein E Apoe P08226 Optic Neuropathy Lake, S. et al. (Br J Ophthalmol, 2004)
Apolipoprotein E Apoe P02650 Optic Neuropathy Lake, S. et al. (Br J Ophthalmol, 2004)
Superoxide dismutase [Mn], mitochondrial Sod2 P07895 Optic Neuropathy Qi, X. et al. (Ann Neurol, 2004)
Ribose-phosphate pyrophosphokinase 1 Prps1 Q9D7G0 Optic Neuropathy Kim, H. J. et al. (Am J Hum Genet, 2007)
Aconitate hydratase, mitochondrial Aco2 Q99KI0 Optic Neuropathy Metodiev, M. D. et al. (J Med Genet, 2014)
C-X-C motif chemokine 10 Cxcl10 P48973 Peripheral demyelinating neuropathy Kieseier, B. C. et al. (Brain, 2002)
Arylsulfatase A Arsa P50428 Peripheral demyelinating neuropathy Comabella, M. et al. (Ann Neurol, 2001)
Dsp protein Dsp Q4QQR7 Peripheral demyelinating neuropathy Gherardi, R. K. et al. (Neurology, 1998)
Myelin protein P0 Mpz P06907 Peripheral demyelinating neuropathy
Peroxiredoxin-5, mitochondrial Prdx5 P99029 Peripheral demyelinating neuropathy Garbern, J. Y. et al. (Ann N Y Acad Sci, 1999)
Peroxiredoxin-5, mitochondrial Prdx5 Q9R063 Peripheral demyelinating neuropathy Garbern, J. Y. et al. (Ann N Y Acad Sci, 1999)
Myelin protein P0 Mpz P06907 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Carenini, S. et al. (J Cell Biol, 2001), Miyamoto, K. et al. (Eur J Immunol, 2003)
Superoxide dismutase [Cu-Zn] Sod1 P08228 Peripheral motor neuropathy Caress, J. B. et al. (Muscle Nerve, 2017)
Myelin protein P0 Mpz P06907 Peripheral motor neuropathy Marttila, M. et al. (J Neurol, 2012)
Alanine--tRNA ligase, cytoplasmic Aars Q8BGQ7 Peripheral motor neuropathy Zhao, Z. et al. (Neurology, 2012)
Valosin containing protein VCP M3XZQ1 Peripheral motor neuropathy Yi, L. et al. (Hum Mol Genet, 2012)
Transitional endoplasmic reticulum ATPase Vcp Q01853 Peripheral motor neuropathy Yi, L. et al. (Hum Mol Genet, 2012)
Transitional endoplasmic reticulum ATPase Vcp P46462 Peripheral motor neuropathy Yi, L. et al. (Hum Mol Genet, 2012)