Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.080 | GeneticVariation | disease | BEFREE | Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), which regulate phosphoinositide turnover and endosomal trafficking. | 30419760 | 2019 | ||||
|
0.080 | Biomarker | disease | BEFREE | Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. | 28190646 | 2017 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Charcot-Marie-Tooth type 4B1 (CMT4B1) is a rare autosomal recessive demyelinating neuropathy caused by mutation of the myotubularin-related 2 (MTMR2) gene. | 23962696 | 2013 | ||||
|
0.080 | Biomarker | disease | BEFREE | The demyelinating peripheral neuropathy Charcot-Marie-Tooth type 4B (CMT4B) is characterized by axonal degeneration and myelin outfoldings. | 23297362 | 2013 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in the MTMR2 gene are thus an important cause of autosomal recessive demyelinating neuropathy. | 11335693 | 2001 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Hereditary motor and sensory neuropathy with focally folded myelin sheaths, or Charcot-Marie-Tooth neuropathy type 4B (CMT4B), is a distinct clinical and genetic entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. | 10586229 | 1999 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Hereditary motor and sensory neuropathy with focally folded myelin sheaths, or Charcot-Marie-Tooth disease neuropathy type 4B (CMT4B), is a distinct clinical and genetic entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. | 9521281 | 1998 | ||||
|
0.080 | GeneticVariation | disease | 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 |