DISEASES

Disease-gene associations mined from literature

Human genes for combined oxidative phosphorylation deficiency 20

Combined oxidative phosphorylation deficiency 20 [DOID:0111478]

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33.

Synonyms:  combined oxidative phosphorylation deficiency 20,  DOID:0111478,  COXPD20