Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Motor and Sensory Neuropathy Type I
0.020 Biomarker disease BEFREE To date, a genetic defect in one of these genes has been identified in over 1,000 unrelated patients manifesting a wide range of phenotypes, i.e., Charcot-Marie-Tooth disease type 1 (CMT1) and type 2 (CMT2), Dejerine-Sottas syndrome (DSS), hereditary neuropathy with liability to pressure palsies (HNPP), and congenital hypomyelination (CH). 9888385 1999
Hereditary Motor and Sensory Neuropathy Type I
0.020 Biomarker disease BEFREE The distal HMN shows similarities with the hereditary motor and sensory neuropathies type I and II (HMSN I and HMSN II) or Charcot-Marie-Tooth disease type 1 and 2 (CMT 1 and CMT 2) and with some proximal HMN or spinal muscular atrophies (SMA). 1517763 1992