| Human | NEWENTRY | 192343 | Record to support submission of GeneRIFs for a gene not in Gene (human; man). | review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies(MTMR13) |
| Human | FGD4 | 121512 | FYVE, RhoGEF and PH domain containing 4 | We report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy |
| Human | SBF2 | 81846 | SET binding factor 2 | Glaucoma may precede development of neuropathy |
| Human | SH3TC2 | 79628 | SH3 domain and tetratricopeptide repeats 2 | mutations in an uncharacterized transcript, KIAA1985, in 12 families with autosomal recessive neuropathy |
| Human | GDAP1 | 54332 | ganglioside induced differentiation associated protein 1 | Title:Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.|Association:Not Found|Conclusion:Not Found |
| Human | MFN2 | 9927 | mitofusin 2 | findings suggest that mutations in the MFN2 gene are an important causative gene underlying Korean patients with Charcot-Marie-Tooth neuropathy type 2 |
| Human | LITAF | 9516 | lipopolysaccharide-induced TNF factor | This study identified a LITAF/SIMPLE substitution (T49M), absent in 1000 control chromosomes, but which was thought to be a polymorphism in Charcot-Marie-Tooth neuropathy |
| Human | SNAP29 | 9342 | synaptosomal-associated protein, 29kDa | a SNAP29 mutation codes for a SNARE protein involved in intracellular trafficking and causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma |
| Human | CTDP1 | 9150 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 | Congenital cataracts facial dysmorphism neuropathy is caused by a single-nucleotide substitution in an antisense Alu element in intron 6 of CTDP1, resulting in a rare mechanism of aberrant splicing and an Alu insertion in the processed mRNA Neuropathy becomes apparent in childhood |
| Human | MTMR2 | 8898 | myotubularin related protein 2 | review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies |
| Human | YARS | 8565 | tyrosyl-tRNA synthetase | identification of two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with dominant intermediate Charcot-Marie-Tooth neuropathy |
| Human | RAB7A | 7879 | RAB7A, member RAS oncogene family | Mutations in this protein cause Charcot-Marie-Tooth type 2B neuropathy This study report a family with autosomal dominant ulcero-mutilating neuropathy and Sequencing the RAB7 gene showed a novel heterozygous A to C mutation, changing asparagine to threonine at codon 161 |
| Human | TRPV1 | 7442 | transient receptor potential cation channel, subfamily V, member 1 | TRPV1 expression was significantly increased in distal small nerve fibre neuropathy compared with controls TRPV1 antagonists, including TRPV1 siRNAs, have potential in the treatment of both, neuropathic and visceral pain |
| Human | UCP1 | 7350 | uncoupling protein 1 (mitochondrial, proton carrier) | Title:Functional polymorphisms of UCP2 and UCP3 are associated with a reduced prevalence of diabetic neuropathy in patients with type 1 diabetes|Association:Y|Conclusion:Our data indicate that both the G-866A polymorphism in the UCP2 gene and the C-55T polymorphism in the UCP3 gene are associated with a reduced risk of diabetic neuropathy in type 1 diabetes. Thus, the results presented here support the hypothesis that higher expression of uncoupling protein might prevent mitochondria-mediated neuronal injury and, ultimately, diabetic neuropathy. |
| Human | TP53 | 7157 | tumor protein p53 | Title:Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.|Association:Not Found|Conclusion:Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON. |
| Human | SOD2 | 6648 | superoxide dismutase 2, mitochondrial | Title:Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.|Association:Not Found|Conclusion:Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON. |
| Human | PRNP | 5621 | prion protein | Title:Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.|Association:Not Found|Conclusion:We conclude that mutations in the protein coding region of the prion-protein gene are not a common cause of HMSN (95% CI 0-0.034). |
| Human | PPOX | 5498 | protoporphyrinogen oxidase | |
| Human | PMP22 | 5376 | peripheral myelin protein 22 | Title:Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.|Association:Not Found|Conclusion:DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases. As a result of missorting and inefficient proteasomal degradation, the aggregation of PMP22 and recruitment of autophagosomes and lysosomes are key factors in the subcellular pathogenesis of CMT1A neuropathies |
| Human | P2RX7 | 5027 | purinergic receptor P2X, ligand-gated ion channel, 7 | the P2X(7) receptor, via regulation of mature IL-1beta production, plays a common upstream transductional role in the development of pain of neuropathic and inflammatory origin |
| Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Title:Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.|Association:Not Found|Conclusion:Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON. |
| Human | NEFL | 4747 | neurofilament, light polypeptide | Title:|Association:Not Found|Conclusion:Not Found |
| Human | MPZ | 4359 | myelin protein zero | Intronic mutations cause CMT1B by disrupting splicing and certain MPZ mutations may cause neuropathy by interacting with the wild type MPZ in the extracellular space of compact myelin Respiratory failure due to neuropathy Results suggest that at least some late-onset MPZ mutations cause a partial loss of function in the transfected cells, whereas multiple abnormal gain of function pathways can result in early-onset neuropathy Title:Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.|Association:Not Found|Conclusion:DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases. |
| Human | HSPD1 | 3329 | heat shock 60kDa protein 1 (chaperonin) | H9724, a monoclonal antibody to Borrelia burgdorferi's flagellin, binds within live neuroblastoma cells, a potential role in peptide hormone signaling in an autoimmune pathogenesis of the neuropathy of Lyme disease |
| Human | HLA-DRB1 | 3123 | | Title:Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy.|Association:Not Found|Conclusion:This association might be correlated with a severe course of the disease. |
