Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.600 Biomarker group CTD_human
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.500 Biomarker group CTD_human
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.310 CausalMutation group CLINVAR
Entrez Id: 57716
Gene Symbol: PRX
PRX
0.300 Biomarker group CTD_human
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
0.240 Biomarker group MGD
Entrez Id: 3855
Gene Symbol: KRT7
KRT7
0.010 Biomarker group BEFREE 19 adults with known mitochondrial mutation (MT) have been assessed with the Stanford Health Assessment Questionnaire 20-item Disability Index (HAQ-DI), the Symptom Check List-90-Revised (SCL-90-R), the Beck Depression Inventory-Short Form (BDI-SF), the Hamilton Depression Rating Scale (HDRS) and the clinical version of the Structured Clinical Interview for the the DSM-IV (SCID-I and SCID-II) As control, 10 patients with hereditary sensorimotor neuropathy (HN), harboring the peripheral myelin protein-22 (PMP22) mutation were examined with the same tools. 22329956 2012
Entrez Id: 51540
Gene Symbol: SCLY
SCLY
0.010 Biomarker group BEFREE 19 adults with known mitochondrial mutation (MT) have been assessed with the Stanford Health Assessment Questionnaire 20-item Disability Index (HAQ-DI), the Symptom Check List-90-Revised (SCL-90-R), the Beck Depression Inventory-Short Form (BDI-SF), the Hamilton Depression Rating Scale (HDRS) and the clinical version of the Structured Clinical Interview for the the DSM-IV (SCID-I and SCID-II) As control, 10 patients with hereditary sensorimotor neuropathy (HN), harboring the peripheral myelin protein-22 (PMP22) mutation were examined with the same tools. 22329956 2012
Entrez Id: 6886
Gene Symbol: TAL1
TAL1
0.010 Biomarker group BEFREE 19 adults with known mitochondrial mutation (MT) have been assessed with the Stanford Health Assessment Questionnaire 20-item Disability Index (HAQ-DI), the Symptom Check List-90-Revised (SCL-90-R), the Beck Depression Inventory-Short Form (BDI-SF), the Hamilton Depression Rating Scale (HDRS) and the clinical version of the Structured Clinical Interview for the the DSM-IV (SCID-I and SCID-II) As control, 10 patients with hereditary sensorimotor neuropathy (HN), harboring the peripheral myelin protein-22 (PMP22) mutation were examined with the same tools. 22329956 2012
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.600 GeneticVariation group BEFREE 19 adults with known mitochondrial mutation (MT) have been assessed with the Stanford Health Assessment Questionnaire 20-item Disability Index (HAQ-DI), the Symptom Check List-90-Revised (SCL-90-R), the Beck Depression Inventory-Short Form (BDI-SF), the Hamilton Depression Rating Scale (HDRS) and the clinical version of the Structured Clinical Interview for the the DSM-IV (SCID-I and SCID-II) As control, 10 patients with hereditary sensorimotor neuropathy (HN), harboring the peripheral myelin protein-22 (PMP22) mutation were examined with the same tools. 22329956 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.040 Biomarker group BEFREE Hereditary motor and sensory neuropathy type 2C (HMSN2C, Charcot-Marie-Tooth 2C [CMT2C]) is an autosomal dominant motor and sensory neuropathy involving limb, diaphragm, vocal cord, and intercostal muscles. 12682323 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.600 Biomarker group BEFREE Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). 19344920 2009
Entrez Id: 8731
Gene Symbol: RNMT
RNMT
0.070 Biomarker group BEFREE Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). 19344920 2009
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
0.230 GeneticVariation group BEFREE Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). 19344920 2009
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
0.030 GeneticVariation group BEFREE Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). 19344920 2009
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
0.270 GeneticVariation group BEFREE Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position. 23384994 2014
Entrez Id: 3098
Gene Symbol: HK1
HK1
0.030 GeneticVariation group BEFREE Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. 26822750 2016
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
0.250 Biomarker group BEFREE Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. 28003645 2017
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
0.230 Biomarker group BEFREE Hereditary motor and sensory neuropathy (HMSN) with focally folded myelin sheaths, or Charcot-Marie-Tooth type 4B (CMT4B), is a distinct clinical entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. 8817346 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.600 GeneticVariation group BEFREE Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis. 16844954 2006
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
0.020 GeneticVariation group BEFREE Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. 21194679 2011
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.220 GeneticVariation group BEFREE Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs. 25583183 2014
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.600 Biomarker group BEFREE CMT1A accounts for approximately 50% of HMSN patients. 26479344 2016
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
0.270 GeneticVariation group BEFREE Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating disease for which there is no effective therapy. 30042657 2018
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
0.010 GeneticVariation group BEFREE BICD2 mutations appear rather unlikely to cause a phenotype of HMSN and are a very rare cause of the HSP phenotype.Muscle Nerve 59:484-486, 2019. 30536747 2019
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
0.010 GeneticVariation group BEFREE HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. 31848916 2020