DISEASES

Disease-gene associations mined from literature

Human genes for Ruijs-Aalfs syndrome

Ruijs-Aalfs syndrome [DOID:0111264]

A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.

Synonyms:  Ruijs-Aalfs syndrome,  DOID:0111264,  RuijsAalfs syndrome,  Ruijs-Aalfs disease,  Ruijs-Aalfs disorder ...