Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Motor and Sensory Neuropathies
0.220 Biomarker group MGD Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. 25552649 2015
Hereditary Motor and Sensory Neuropathies
0.220 GeneticVariation group BEFREE Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs. 25583183 2014
Hereditary Motor and Sensory Neuropathies
0.220 GeneticVariation group BEFREE The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13.1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21.2-q21.3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26). 11231025 2001