DISEASES

Disease-gene associations mined from literature

Human genes for Charcot-Marie-Tooth disease type 2E

Charcot-Marie-Tooth disease type 2E [DOID:0110165]

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.

Synonyms:  Charcot-Marie-Tooth disease type 2E,  CharcotMarieTooth disease type 2E,  DOID:0110165,  autosomal dominant Charcot-Marie-Tooth disease type 2E,  Charcot-Marie-Tooth neuropathy type 2E ...