01
At a glance
Association overview
02
Provenance
Evidence and sources
03
DYNC1H1
The gene
04
Charcot-Marie-Tooth Disease
The disorder
05
ClinVar and variant evidence
Genetic basis
07
Provenance
The association between DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1) and Charcot-Marie-Tooth Disease is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.