Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
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
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
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
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
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
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
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
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
0.080 GeneticVariation disease BEFREE Mutations in the MTMR2 gene are thus an important cause of autosomal recessive demyelinating neuropathy. 11335693 2001
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
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
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
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
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
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