MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		0.010 Biomarker disease BEFREE Our data suggest that TRPV4-linked CMT2C accounts for a sizable fraction in this USA cohort of CMT2; it has a wide phenotypic spectrum, and vocal cord paralysis, scapular weakness and wasting, skeletal dysplasia, and hearing loss are suggestive signs for TRPV4-linked CMT2C. 31468327 2020
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.010 Biomarker disease BEFREE This review examines the growing number of identified dHMN genes, discusses recent insights into the functions of these genes and possible pathogenic mechanisms, and looks at the increasing overlap between dHMN and the other neuropathies CMT2 and SMA. 21902652 2011
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.030 Biomarker disease BEFREE Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). 29566793 2018
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.030 Biomarker disease BEFREE Mutations in the equivalent human gene, Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) distal neuropathies. 22714410 2012
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.030 Biomarker disease BEFREE Progressive axonal degeneration can lead to both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the affected neurons: peripheral motor and sensory nerves or central nervous system axons of the corticospinal tract and dorsal columns, respectively. 30737464 2019
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		0.010 Biomarker disease BEFREE Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS. 17663003 2007
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.020 Biomarker disease BEFREE To confirm the involvement of the KIF5A gene in both CMT2 and SPG10 phenotypes and to define the frequency of KIF5A mutations in an Italian HSP patient population, we performed a genetic screening of this gene in a series of 139 HSP and 36 CMT2 affected subjects. 21623771 2012
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.020 Biomarker disease BEFREE Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). 29566793 2018
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.020 GeneticVariation disease BEFREE Electroneuromyography revealed an axonal motor and sensory neuropathy in 3 different families, very evocative of type II Charcot-Marie-Tooth (CMT2) disease, although none had mutations in the known CMT2 genes. 24804794 2014
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.020 Biomarker disease BEFREE CMT2 refers to inherited axonal polyneuropathy, which associates progressive peripheral motor and sensory neuropathy, a family history consistent mainly with autosomal dominant inheritance, and normal nerve conduction velocities. 26686600 2016
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.010 Biomarker disease BEFREE Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS. 17663003 2007
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.010 GeneticVariation phenotype BEFREE Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 20806400 2010
CUI: C0750403
Disease: Proximal weakness
Proximal weakness 		0.010 GeneticVariation phenotype BEFREE This study also identified a de novo c.3015_3027dup frameshift mutation predicting p.Lys1010Glnfs*57 in NEFH from a CMT2 family with an atypical clinical symptom of prominent proximal weakness. 28544463 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE To reveal the most prevalent variant alleles, we overlaid our findings with cancer- and population-based datasets and validated a subset of novel variants of cancer-related genes: ESRP2, GBP1, TPP1, MAD2L1BP, GLUD2 and SLC30A8. 23884293 2013
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.010 Biomarker disease BEFREE CMT2 refers to inherited axonal polyneuropathy, which associates progressive peripheral motor and sensory neuropathy, a family history consistent mainly with autosomal dominant inheritance, and normal nerve conduction velocities. 26686600 2016
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		0.010 Biomarker disease BEFREE While nerve biopsy has lost its diagnostic importance in certain forms of the disease, such as CMT 1A, CMT 1B, and X-linked CMT (CMT X), it remains important for better characterizing the lesions of CMT 2 and forms of genetic peroneal atrophy in which DNA study is unrevealing. 12901697 2003
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 Biomarker group BEFREE Growing evidences suggest that GAN is a continuum with the peripheral neuropathy Charcot-Marie-Tooth diseases type 2 (CMT2). 24758703 2014
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 Biomarker group BEFREE Growing evidences suggest that GAN is a continuum with the peripheral neuropathy Charcot-Marie-Tooth diseases type 2 (CMT2). 24758703 2014
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.050 Biomarker disease BEFREE Since next-generation sequencing will not be easily accessible, epidemiological data and clinical "phenotyping" remain the best strategy for clinicians to reach a correct genetic diagnosis in CMT2 and dHMN patients. 26989944 2016
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.050 Biomarker disease BEFREE Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 patients), axonal motor neuropathy (motor Charcot-Marie-Tooth disease [CMT2], 16 patients), or complex neurologic disease predominantly affecting the motor nerves (hereditary motor neuropathy plus, 25 patients). 28251916 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.050 Biomarker disease BEFREE We aimed to establish the importance of HINT1 mutations as the cause of hereditary neuropathy and particularly hereditary motor neuropathy/axonal Charcot-Marie-Tooth (HMN/CMT2) among Czech patients. 25342199 2015
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.050 Biomarker disease BEFREE The identified known and novel point mutations in the MFN2 gene expand the clinical spectrum from CMT2 and intermediate CMT to also include possibly CMT1 and the dHMN phenotypes. 20350294 2010
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.050 GeneticVariation disease BEFREE Here we report the mutation analysis of the GJB1 gene in 76 subjects with possible CMT1 and absence of 17p11.2 duplication, and in 38 CMT2 patients without mutations in CMT2-associated-genes, selected from a cohort of 684 patients with peripheral sensory-motor neuropathy. 18379723 2008
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.010 GeneticVariation disease BEFREE Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. 26168012 2015
CUI: C0751576
Disease: Partial Paralysis (Paresis) Vocal Cords
Partial Paralysis (Paresis) Vocal Cords 		0.010 GeneticVariation disease BEFREE Individuals with the same mutation may have nondistinct CMT2 or have phenotypic CMT2C with vocal cord paresis. 21288981 2011