DISEASES

Disease-gene associations mined from literature

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

Charcot-Marie-Tooth disease axonal type 2Q [DOID:0110170]

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.

Synonyms:  Charcot-Marie-Tooth disease axonal type 2Q,  CharcotMarieTooth disease axonal type 2Q,  DOID:0110170,  CMT2Q,  Charcot-Marie-Tooth neuropathy type 2Q ...