DISEASES

Disease-gene associations mined from literature

Human genes for Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4E [DOID:0110195]

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.

Synonyms:  Charcot-Marie-Tooth disease type 4E,  CharcotMarieTooth disease type 4E,  DOID:0110195,  CMT4E,  Charcot-Marie-Tooth neuropathy type 4E ...