Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.120 CausalMutation group CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.120 GeneticVariation group CLINVAR
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.120 GeneticVariation group CLINVAR
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
0.120 CausalMutation group CLINVAR
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
0.100 CausalMutation group CLINVAR
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
0.100 CausalMutation group CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 GeneticVariation group CLINVAR
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
0.100 CausalMutation group CLINVAR
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
0.100 CausalMutation group CLINVAR
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
0.100 GeneticVariation group CLINVAR
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
0.100 GeneticVariation group CLINVAR
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.010 Biomarker group BEFREE <b>Conclusion:</b> Compared with chemotherapy, incidence risk of peripheral neuropathy related to PD-1/PD-L1 inhibitor was significantly lower than that of the chemotherapy group, while PD-1/PD-L1 inhibitor increased the incidence risk of peripheral neuropathy when it was combined with chemotherapy. 31552184 2019
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
0.010 GeneticVariation group LHGDN 1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered. 15111675 2004
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
0.010 GeneticVariation group BEFREE 1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) peripheral neuropathy, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of myotilinopathy have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered. 15111675 2004
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
0.040 GeneticVariation group BEFREE Peripheral neuropathy is the third phenotypic alteration linked to GJB3 mutations, which enlarges the list of genes that cause this group of heterogeneous disorders. 11309368 2001
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 GeneticVariation group BEFREE Peripheral neuropathy is the most common clinical presentation in TTR amyloidosis although the carpal tunnel syndrome (CTS) may be the first symptom and skin can be involved, as transthyretin amyloidosis is a systemic disease. 12762139 2003
Entrez Id: 1674
Gene Symbol: DES
DES
0.010 GeneticVariation group BEFREE Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. 1517757 1992
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
0.010 GeneticVariation group BEFREE Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. 16864840 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.010 GeneticVariation group BEFREE Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques. 22192498 2012
Entrez Id: 6794
Gene Symbol: STK11
STK11
0.010 Biomarker group BEFREE Peripheral Neuropathy and Hindlimb Paralysis in a Mouse Model of Adipocyte-Specific Knockout of Lkb1. 29032027 2017
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.020 GeneticVariation group BEFREE Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants. 30637453 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.010 Biomarker group BEFREE Peripheral neuropathy in mice transgenic for a human MDR3 P-glycoprotein mini-gene. 8815917 1996
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.040 Biomarker group BEFREE Peripheral neuropathy in mice transgenic for a human MDR3 P-glycoprotein mini-gene. 8815917 1996
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.030 Biomarker group BEFREE Peripheral neuropathy in transgenic diabetic mice: restoration of C-fiber function with human recombinant nerve growth factor. 9753304 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
0.100 AlteredExpression group BEFREE Cx32 is widely expressed in brain and peripheral nerve, yet clinical manifestations of CMTX mainly arise from peripheral neuropathy. 12325071 2002