DISEASES

Disease-gene associations mined from literature

Human genes for Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B1 [DOID:0110156]

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

Synonyms:  Charcot-Marie-Tooth disease type 2B1,  CharcotMarieTooth disease type 2B1,  DOID:0110156,  CMT2B1,  Charcot-Marie-Tooth disease neuronal type 2B1 ...