DISEASES

Disease-gene associations mined from literature

Human genes for Charcot-Marie-Tooth disease axonal type 2C

Charcot-Marie-Tooth disease axonal type 2C [DOID:0110182]

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.

Synonyms:  Charcot-Marie-Tooth disease axonal type 2C,  CharcotMarieTooth disease axonal type 2C,  DOID:0110182,  autosomal cominant axonal Charcot-Marie-Tooth disease type 2C,  autosomal dominant Charcot-Marie-Tooth disease type 2C ...